242:
219:
116:
141:
1484:
preference for lineoyl groups has been reported to be ten times greater than that of oleoyl groups and twenty times greater than that of arachidonoyl groups. Conflicting explanations for this preference have included causation from energy minimization with influences by the surrounding microenvironment, known as the thermodynamic remodeling hypothesis, or the inherent enzymatic preference of tafazzin for specific acyl residues.
248:
147:
1943:
BTHS, despite tafazzin's crucial roles in brain mitochondrial respiration and normal cognitive function. One study has shown that the brain has a distinct CL composition, with more diverse and less tetralinoleoyl-dependent CL. This composition diminishes the need for CL remodeling, resulting in a less tafazzin-dependent composition. Another study found that the brain has a higher concentration of saturated
2161:
2545:
2353:
1876:
gene cause dilated cardiomyopathy without the other features of Barth syndrome. LVNC is a condition in which the left ventricle, characterized by a spongy structure on the ventricular wall, exhibits prominent trabeculations and deep intertrabecular recesses. INVM occurs when the lower left chamber of
1604:
gene have been linked to this disease. It is a rare disease, found in 1 out of every 300,000 to 400,000 live births, though it is widely known that the disease is underdiagnosed. Although BTHS occurs almost exclusively in males, there has been one identified case of BTHS in a female patient. Tafazzin
1470:
into a mature composition that contains a predominance of tetralinoleoyl moieties. CL remodeling in mammals requires additional enzymes, such as monolysocardiolipin acyltransferase (MLCLAT), acyl-CoA:lysocardiolipin acyltransferase (ALCAT), and phospholipase. The process enables the proper function
1942:
Cognitive impairments are common in BTHS patients in varying degrees. While a higher incidence of cognitive impairment and mild learning and speech difficulties are often manifested, many BTHS patients have also displayed normal cognitive abilities. This shows the limited neurologic involvement in
1823:
and cardiac function in BTHS. However, severe manifestations of the symptoms in BTHS patients require heart transplantation. Statistics show 9 out of 73 (12%) surviving patients who have undergone cardiac transplantation at the last update. Heart transplantation in BTHS patients has generally been
1457:
the remodeling of the cardiolipin. The remodeling is achieved by transacylation or the deacylation-reacylation cycle. The deacylation-reacylation cycle, also known as the Lands cycle, begins with deacylation mediated by phospholipase Cld1 to form monolysocardiolipin (MLCL). MLCL is reacylated by
5898:
Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (September 2005). "A human protein-protein
2045:
overexpression was associated with an increase in the expression of oncogenes (FXYD-3 and Livin). It was also found to enhance cell anti-apoptosis response and abnormal cell growth and was even found to be an indicator of rectal cancer's stage, type, and progression. Additionally, the levels of
1483:
Tafazzin in CL remodeling has been shown to have a clear preference for linoleoyl-containing PC in forming mature CL. This specificity leads a mature composition of CL that contains a predominance of tetralinoleoyl moieties, which leads to the enrichment of tetralinoleoyl-cardiolipin (CL4). The
1523:
by stabilizing the chain complexes with its linkages between acyl chains, binding to the c-rings of ATP synthase for proper function, maintaining respiratory chain supercomplex formation with proteins localized in the inner mitochondrial matrix including ATP/ADP translocase, pyruvate carrier,
1933:
supplementation, which has been shown to ameliorate cardiac function and muscle weakness in some patients. However, no formal assessment of the utility of carnitine and arginine supplementation has been published, and its uses have only been effective in patients with specific deficiencies.
1859:
Cardiomyopathy in BTHS is exhibited at varying levels. A cohort study of BTHS patients showed 41.5% of all diagnosed cardiomyopathies in the range from birth to one month of age, and 95% exhibited a history of cardiomyopathy. Furthermore, there have been cases with mild or late-onset
2067:
allows follicular adenomas to be distinguished from follicular carcinomas, while in cervical cancer tafazzin levels increased from normal tissue, to squamous intraepithelial lesions, to squamous cervical carcinoma. Based on studies of cervical cancer progression, it is believed that
1428:, the energy-producing centers of cells. Tafazzin transacylase activity is responsible for cardiolipin remodeling, critical to maintaining mitochondrial inner membrane structure and function. It also has unique acyl specificity and membrane curvature sensing capabilities.
2062:
mutant cancer cells. In prostate cancer, CL, which is remodeled by tafazzin, was shown to have high palmitoleic acid content, which was found to have the ability to stimulate prostate cancer cell proliferation and reduce the rate of apoptosis. In thyroid neoplasm,
1333:
region is known to interact with other proteins. TAZ has no known resemblance to other proteins. The half-life of tafazzin is just 3–6 hours, considerably shorter than most mitochondrial proteins, which may explain research difficulties in studying its structure.
5794:
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T (November 2011). "Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium".
1798:
There is no known cure for BTHS, and treatment of BTHS is convoluted and delayed due to the disease's varying phenotypes and its sheer complexity. Thus, many treatments focus on cardiovascular and metabolic disorders, rather than treating the symptom itself.
1868:(DCM), left ventricular condition in which the heart becomes weakened and enlarged, and therefore cannot pump blood efficiently. The resulting decrease in blood flow can lead to swelling in the legs and abdomen, fluid in the lungs, and an increased risk of
1967:, 3‐methylglutaric acid, and 2‐ethyl-hydracrylic acid. While 3-MGA is largely excreted in BTHS patients, some patients have been found to have normal levels of organic acids in urine. Treatment of 3-MGA and metabolic deficiencies have included
7236:
1552:
gene have been associated with a number of mitochondrial deficiencies and associated disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC).
2010:. Presentation of neutropenia varies from mild to severe, cyclical to non-cyclical, and intermittent to chronic. An absolute neutrophil count of < 500/μL, defined as severe chronic neutropenia (SCN), is the most deleterious form.
4877:
Spencer CT, Byrne BJ, Bryant RM, Margossian R, Maisenbacher M, Breitenger P, et al. (November 2011). "Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome".
4215:
Barth PG, Scholte HR, Berden JA, Van der Klei-Van
Moorsel JM, Luyt-Houwen IE, Van 't Veer-Korthof ET, et al. (December 1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes".
1214:. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. Most isoforms are found in all tissues, but some are found only in certain types of cells. Mutations in the
4841:
Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, et al. (October 1997). "Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals".
7241:
1536:. Properly formed CL is critical in maintaining mitochondrial shape, energy production, and protein transport within cells, and remodeling by tafazzin aids in removing and replacing acyl chains damaged by oxidative stress. During
1847:
action, which may lead to an insufficient power stroke, severely weakened tissue, enlarged left ventricle, partial or incomplete contraction, and decreased ejection volume. Such consequences contribute to the cardiomyopathic
1436:
After its synthesis, cardiolipin cannot exert its proper functions until it is actively remodeled. Tafazzin, an acyl-specific transferase, catalyzes the acyl transfer reaction between phospholipids and lysophospholipids in a
1337:
The putative phospholipid-binding site, which is the active site of
Tafazzin, is a 57 amino acid cleft with two open ends and positively charged residues. In addition, tafazzin localizes to the membrane leaflets facing the
1466:(PC) to MLCL. Such enzymatic activity forms lyso-PC and CL, and enriches the specific acyl chain of cardiolipin. The process has been shown to be specific for linoleoyl-containing PC. Such remodeling processes converts
4615:
Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, et al. (November 2012). "The Barth
Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study".
4362:
Ferri L, Dionisi-Vici C, Taurisano R, Vaz FM, Guerrini R, Morrone A (November 2016). "When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription".
1458:
tafazzin in a single-step reaction which transfers a linoleic acid group from phosphatidylcholine (PC), completing the CL deacylation-reacylation cycle. In contrast, transacylation involves the transfer of a
5946:
Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH (May 2010).
6246:
Lu B, Kelher MR, Lee DP, Lewin TM, Coleman RA, Choy PC, Hatch GM (October 2004). "Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues".
4455:
Yen TY, Hwu WL, Chien YH, Wu MH, Lin MT, Tsao LY, et al. (August 2008). "Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review".
4916:
Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, et al. (February 1993). "Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28".
1877:
the heart (left ventricle) does not develop correctly. In INVM, the heart muscle is weakened and cannot pump blood efficiently, frequently causing heart failure. Abnormal heart rhythms (
1540:
and similar processes, CL is known to act as a platform for proteins and other machinery involved with its interactions with members of the Bcl-2 family, caspases, Bid, Bax, and Bak.
4503:
for "Open-Label
Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)" at
6164:
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (January 2006).
5423:
Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, et al. (July 2006). "The Severe
Chronic Neutropenia International Registry: 10-Year Follow-up Report".
5525:
Sapandowski A, Stope M, Evert K, Evert M, Zimmermann U, Peter D, et al. (December 2015). "Cardiolipin composition correlates with prostate cancer cell proliferation".
1369:. It has a molecular weight around 35 kDa but may also appear in lower molecular weights due to species differences in isoform expression. Seven functional classes of
255:
154:
3977:
Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG (September 1999). "Genetic analysis of the G4.5 gene in families with suspected Barth syndrome".
1645:
with high energy demands, such as the heart and other muscles, are most susceptible to cell death due to reduced energy production in mitochondria and protein transport.
6857:
4565:
Monteiro JP, Oliveira PJ, Jurado AS (October 2013). "Mitochondrial membrane lipid remodeling in pathophysiology: a new target for diet and therapeutic interventions".
5465:"Tafazzin protein expression is associated with tumorigenesis and radiation response in rectal cancer: a study of Swedish clinical trial on preoperative radiotherapy"
1922:
in varying degrees. Furthermore, it has been shown that a downshift in weight, length, and height relative to the normal population is exhibited in BTHS patients.
1925:
Treatment for developmental delays have included cornstarch supplementation as an alternative source of glucose. Metabolic deficiencies have been treated by oral
3776:
Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ (May 2004). "X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update".
2050:
were connected to the radiotherapy response of the patients, potentially offering insight into cancer recurrence in patients. A potential link between PI3K and
6674:
6669:
2041:
overexpression has been linked to rectal cancer, prostate cancer, thyroid neoplasm, and cervical cancer. In a study of 140 Swedish rectal cancer patients,
1184:
1951:
scavenging capability, which allows the circumvention of the harmful effects of ROS. These findings explain the neurological phenotypes in BTHS patients.
7211:
6475:
6207:
McKenzie M, Lazarou M, Thorburn DR, Ryan MT (August 2006). "Mitochondrial respiratory chain supercomplexes are destabilized in Barth
Syndrome patients".
4131:
Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F (June 1999). "X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)".
2145:
who enthusiastically beats his groin with a plastic bottle, this as a symbol of masochism for the strenuous will to find it by the group of researchers.
1325:
may function as a membrane anchor, which does not exist in the shortest forms of tafazzins. The second region is a variable exposed loop located between
1621:, which disrupts normal mitochondrial shape and function, including energy production and protein transport. Barth syndrome patients exhibit defects in
777:
77:
6310:
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004).
758:
5832:
Bachou T, Giannakopoulos A, Trapali C, Vazeou A, Kattamis A (2009). "A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome".
6657:
3290:"Separation and characterization of cardiolipin molecular species by reverse-phase ion pair high-performance liquid chromatography-mass spectrometry"
2571:"The N-terminal phosphodegron targets TAZ/WWTR1 protein for SCFβ-TrCP-dependent degradation in response to phosphatidylinositol 3-kinase inhibition"
3148:"Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome"
2815:
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (April 1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome".
7010:
6944:
6664:
4757:
Woiewodski L, Ezon D, Cooper J, Feingold B (April 2017). "Barth
Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis".
2030:
1652:
have abnormally shaped mitochondria, which could impair their ability to grow (proliferate) and mature (differentiate), leading to a weakened
6850:
2319:
2301:
1441:-independent manner. The remodeling process of cardiolipin involves reaching a final acyl composition that is primarily linoleoyl residues.
7231:
6652:
2137:, after long and intensive work. Owing to the complex procedure required for the identification of tafazzin, the protein was named after
6824:
4855:
2909:"Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain"
1045:
241:
6792:
1365:. Many unique forms of tafazzin have been identified, with lengths from 129 to 292 amino acids. Tafazzin has at least four different
6608:
6546:
6080:"Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography"
5214:
3081:
1409:
1405:
1052:
6123:"The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome"
1524:
carnitine carrier, and all of the respiratory chain complexes (I, III, IV, V). Cardiolipin also facilitates proton trapping in the
218:
6912:
6843:
6603:
6598:
2346:
2781:
1860:
cardiomyopathies, such as two infantile patients without cardiomyopathic phenotypes at the time of diagnosis. Cardiomyopathy in
1613:
gene mutations that cause Barth syndrome result in the production of tafazzin proteins with little or no function. As a result,
7256:
7188:
6541:
5142:"Aberrant cardiolipin metabolism is associated with cognitive deficiency and hippocampal alteration in tafazzin knockdown mice"
4710:"Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies"
2288:
2267:
1899:
is both generalized and local weakness. Weakness is exhibited as overt muscle weakness and increased exertional fatigue due to
2037:
is involved in inducing EMT as well as its high levels in these cancer cells may point to its involvement in gastric cancer.
7193:
6556:
6468:
1231:
4954:
Ferreira C, Thompson R, Vernon H (1993). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).
2284:
1392:
3 and residues 185–200 in exon 7/8 targets. Tafazzin localizes with peripheral association to membrane leaflets between the
4039:
Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, et al. (May 2012). "Barth syndrome in a female patient".
140:
115:
6721:
6701:
6615:
1566:
1243:
6277:"The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome"
2263:
6642:
6536:
6531:
2183:"TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome"
2081:
1889:
1671:
1504:
1393:
254:
153:
57:
2181:
Anders O Garlid; Calvin T Schaffer; Jaewoo Kim; Hirsh Bhatt; Vladimir
Guevara-Gonzalez; Peipei Ping (21 October 2019).
6804:
6578:
3015:"Mechanism for Remodeling of the Acyl Chain Composition of Cardiolipin Catalyzed by Saccharomyces cerevisiae Tafazzin"
1960:
1741:
3683:"The reconstituted ADP/ATP carrier activity has an absolute requirement for cardiolipin as shown in cysteine mutants"
2627:"TAZ overexpression is associated with epithelial-mesenchymal transition in cisplatin-resistant gastric cancer cells"
2168:
The 2019 version of this article was updated by an external expert under a dual publication model. The corresponding
247:
146:
6814:
6647:
6521:
1713:
1227:
6398:"Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism"
3200:"The Taz1p transacylase is imported and sorted into the outer mitochondrial membrane via a membrane anchor domain"
6958:
6907:
6762:
6738:
6689:
6573:
6526:
6501:
6461:
5331:
Schmidt MR, Birkebaek N, Gonzalez I, Sunde L (March 2004). "Barth syndrome without 3-methylglutaconic aciduria".
1812:
1520:
1515:. Due to this composition, cardiolipin exhibits a conical structure, which allows for membrane curvature called
48:, BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, Taz1, tafazzin, TAZ, tafazzin, phospholipid-lysophospholipid transacylase
6767:
6492:
6447:
1562:
1239:
822:
65:
4518:"First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics"
5614:"MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation"
1277:
and entirely unrelated to the gene of interest. The Hippo pathway TAZ protein has an official gene symbol of
6809:
6716:
5374:
Steward CG, Groves SJ, Taylor CT, Maisenbacher MK, Versluys B, Newbury-Ecob RA, et al. (January 2019).
5053:
Vernon HJ, Sandlers Y, McClellan R, Kelley RI (June 2014). "Clinical laboratory studies in Barth
Syndrome".
1964:
1948:
1853:
1733:
1274:
803:
7251:
6777:
6772:
6637:
6216:
3481:
Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Pérez-Cerdá C, Morrone A, et al. (October 2009).
2860:"Tafazzins from Drosophila and mammalian cells assemble in large protein complexes with a short half-life"
2072:
may induce cancer by inhibiting apoptosis and promoting cancer cell growth, viability, and tumorigenesis.
1865:
1223:
5189:
Corazzi L, Robert R (2009). "Lipids of Brain
Mitochondria". In Lajtha A, Tettamanti G, Goracci G (eds.).
7123:
6757:
6752:
2169:
5230:
Starkov AA, Andreyev AY, Zhang SF, Starkova NN, Korneeva M, Syromyatnikov M, Popov VN (December 2014).
6819:
6706:
6693:
6593:
6003:
5573:"Gene expression profiling of differentiated thyroid neoplasms: diagnostic and clinical implications"
5476:
4408:"A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection"
4311:
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, et al. (February 2013).
4087:
3635:
2686:
1783:, and other common symptoms of Barth syndrome. Another c.C153G mutation resulted in severe metabolic
1533:
1373:
mutations have been classified based on the pathogenic loss-of-function mechanisms of each mutation.
129:
44:
6221:
3341:"Identification of a cardiolipin-specific phospholipase encoded by the gene CLD1 (YGR110W) in yeast"
1273:(transcriptional coactivator with PDZ-binding motif, a 50 kDA protein). which is a part of the
6551:
6045:"Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome"
5612:
Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, et al. (December 2012).
1772:
1630:
1525:
1496:
1463:
1397:
1354:
1339:
1137:
1024:
1020:
1016:
1012:
979:
945:
941:
937:
933:
890:
2029:. This resistance was identified to be due to the acquired ability of the cancer cells to undergo
1191:
to its mature composition containing a predominance of tetralinoleoyl moieties. Several different
6835:
5934:
5886:
5820:
5550:
5356:
4973:
4641:
4504:
4480:
4388:
4284:
4241:
4156:
4113:
3801:
3753:
2840:
1919:
1907:
1840:
1718:
1667:
1199:
gene. A long form and a short form of each of these isoforms is produced; the short form lacks a
89:
6443:
5753:"Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency"
4174:
Valianpour F, Mitsakos V, Schlemmer D, Towbin JA, Taylor JM, Ekert PG, et al. (June 2005).
2347:"TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase [ Homo sapiens (human) ]"
1028:
991:
987:
983:
975:
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912:
902:
898:
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886:
5198:
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6511:
6419:
6384:
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6263:
6234:
6195:
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6109:
6066:
6031:
5978:
5926:
5878:
5849:
5812:
5782:
5702:
5684:
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5594:
5542:
5504:
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5348:
5313:
5261:
5210:
5171:
5119:
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5032:
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4933:
4895:
4859:
4823:
4774:
4739:
4690:
4633:
4592:
4547:
4472:
4437:
4380:
4344:
4276:
4233:
4197:
4148:
4105:
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3994:
3959:
3893:
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3793:
3745:
3704:
3663:
3604:
3555:
3504:
3456:
3407:
3372:
3321:
3270:
3229:
3177:
3128:
3077:
3064:
Tang Y, Xia H, Li D (2018). "Membrane Phospholipid Biosynthesis in Bacteria". In Cao Y (ed.).
3046:
2990:
2938:
2889:
2832:
2763:
2714:
2648:
2602:
2505:
2451:
2403:
2222:
2204:
1768:
1649:
1582:
1259:
85:
37:
3427:"Cardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and function"
2108:
6872:
6747:
6711:
6409:
6374:
6366:
6331:
6323:
6288:
6255:
6226:
6185:
6177:
6142:
6134:
6099:
6091:
6056:
6021:
6011:
5968:
5960:
5916:
5908:
5870:
5841:
5804:
5772:
5764:
5737:
5692:
5676:
5635:
5625:
5584:
5534:
5494:
5484:
5432:
5395:
5387:
5340:
5303:
5295:
5251:
5243:
5202:
5190:
5161:
5153:
5109:
5101:
5062:
5022:
5012:
4999:
Rigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, et al. (May 2013).
4925:
4887:
4851:
4813:
4805:
4766:
4729:
4721:
4680:
4672:
4625:
4582:
4574:
4537:
4529:
4464:
4427:
4419:
4372:
4334:
4324:
4268:
4225:
4187:
4140:
4095:
4048:
3986:
3949:
3941:
3883:
3842:
3832:
3785:
3735:
3694:
3653:
3643:
3594:
3586:
3545:
3535:
3494:
3446:
3438:
3399:
3362:
3352:
3311:
3301:
3260:
3219:
3211:
3167:
3159:
3118:
3110:
3069:
3036:
3026:
2980:
2972:
2928:
2920:
2879:
2871:
2824:
2753:
2745:
2704:
2694:
2675:"Tafazzin (TAZ) promotes the tumorigenicity of cervical cancer cells and inhibits apoptosis"
2638:
2592:
2582:
2495:
2485:
2441:
2393:
2383:
2230:
2212:
2196:
1963:(3-MGA), a condition characterized by increased levels of organic acids in urine, including
1878:
1804:
1745:
1642:
1578:
1294:
1255:
1177:
334:
265:
209:
164:
5571:
Chevillard S, Ugolin N, Vielh P, Ory K, Levalois C, Elliott D, et al. (October 2004).
2370:
Xu Y, Zhang S, Malhotra A, Edelman-Novemsky I, Ma J, Kruppa A, et al. (October 2009).
2088:
1852:
of Barth syndrome, marked by a weakened heart and diminished contractility. Alternatively,
7163:
7158:
7153:
7143:
7110:
7065:
7060:
7055:
7030:
7015:
7005:
7000:
6985:
6902:
6787:
6488:
6453:
5921:
5640:
4985:
3819:
Baile MG, Sathappa M, Lu YW, Pryce E, Whited K, McCaffery JM, et al. (January 2014).
2472:
Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, et al. (January 2011).
2142:
2113:
2098:
1753:
1697:
1424:
gene provides instructions for producing a protein called tafazzin, which is localized to
1366:
1362:
1358:
1169:
309:
5990:
Malhotra A, Edelman-Novemsky I, Xu Y, Plesken H, Ma J, Schlame M, Ren M (February 2009).
5665:"The Function of Tafazzin, a Mitochondrial Phospholipid–Lysophospholipid Acyltransferase"
4176:"Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis"
3575:"The physical state of lipid substrates provides transacylation specificity for tafazzin"
6007:
5480:
5140:
Cole LK, Kim JH, Amoscato AA, Tyurina YY, Bay RH, Karimi B, et al. (October 2018).
4809:
4091:
3639:
2690:
1660:. Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome.
6927:
6379:
6354:
6190:
6165:
6147:
6122:
6104:
6079:
6026:
5991:
5973:
5948:
5777:
5752:
5697:
5664:
5499:
5464:
5400:
5375:
5344:
5308:
5283:
5256:
5231:
5166:
5141:
5114:
5105:
5089:
5027:
5000:
4818:
4793:
4734:
4709:
4685:
4660:
4542:
4517:
4432:
4407:
4339:
4312:
3954:
3929:
3847:
3820:
3658:
3623:
3599:
3574:
3550:
3523:
3451:
3426:
3367:
3340:
3316:
3289:
3224:
3199:
3172:
3147:
3123:
3098:
3041:
3014:
2985:
2960:
2933:
2908:
2884:
2859:
2758:
2733:
2709:
2674:
2597:
2570:
2500:
2473:
2398:
2371:
2217:
2187:
2182:
2130:
2022:
1911:
1861:
1832:
1792:
1764:
1757:
1691:
1593:
1574:
1251:
1219:
1211:
1165:
6336:
6311:
4259:
Aprikyan AA, Khuchua Z (May 2013). "Advances in the understanding of Barth syndrome".
4100:
4075:
3990:
3740:
3723:
3699:
3682:
692:
687:
682:
677:
672:
667:
662:
657:
652:
647:
642:
637:
632:
627:
622:
617:
612:
596:
591:
586:
581:
576:
571:
566:
561:
556:
540:
535:
530:
525:
7225:
7215:
5191:
4229:
2789:
2734:"Integration of cardiac proteome biology and medicine by a specialized knowledgebase"
2549:
2357:
1856:(ROS) has been suggested as the primary cause of cardiovascular impairments in BTHS.
1820:
1708:
1653:
1614:
1558:
1512:
1459:
1450:
1361:. This motif is responsible for facilitating the Asp-His dyad mechanism seen in many
1347:
1235:
512:
5992:"Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome"
5861:
Gonzalez IL (May 2005). "Barth syndrome: TAZ gene mutations, mRNAs, and evolution".
5824:
5554:
5360:
4708:
Wang G, McCain ML, Yang L, He A, Pasqualini FS, Agarwal A, et al. (June 2014).
4645:
4484:
4245:
4160:
3805:
3757:
2844:
1412:(TIM) mediates tafazzin's movement and insertion into the OMM and anchoring to IMM.
6877:
5938:
4392:
4288:
4117:
3821:"Unremodeled and remodeled cardiolipin are functionally indistinguishable in yeast"
1972:
1800:
1788:
1780:
1749:
1529:
1425:
1298:
1180:
1173:
327:
106:
69:
5890:
5589:
5572:
4578:
4499:
3339:
Beranek A, Rechberger G, Knauer H, Wolinski H, Kohlwein SD, Leber R (April 2009).
2749:
5964:
5751:
Soustek MS, Falk DJ, Mah CS, Toth MJ, Schlame M, Lewin AS, Byrne BJ (July 2011).
5489:
5391:
5157:
3888:
3871:
3499:
3482:
3403:
3265:
3248:
2699:
1317:
and the central region, which are two functionally notable regions. A 30 residue
1130:
93:
7081:
6937:
6898:
6726:
6484:
6370:
5206:
5066:
4891:
4770:
4052:
3573:
Schlame M, Acehan D, Berno B, Xu Y, Valvo S, Ren M, et al. (October 2012).
3163:
3073:
2924:
2324:
National Center for Biotechnology Information, U.S. National Library of Medicine
2306:
National Center for Biotechnology Information, U.S. National Library of Medicine
2093:
2059:
1991:
1776:
1723:
1634:
1626:
1622:
1618:
1606:
1492:
1472:
1467:
1446:
1385:
1330:
1326:
1318:
1310:
1200:
1188:
6061:
6044:
5996:
Proceedings of the National Academy of Sciences of the United States of America
5912:
5845:
5630:
5613:
4955:
4423:
4192:
4175:
3628:
Proceedings of the National Academy of Sciences of the United States of America
3390:
Schlame M (March 2013). "Cardiolipin remodeling and the function of tafazzin".
2875:
2200:
410:
6868:
6438:
6230:
6095:
5808:
5680:
5538:
5299:
5247:
4676:
4468:
4144:
3442:
3013:
Abe M, Hasegawa Y, Oku M, Sawada Y, Tanaka E, Sakai Y, Miyoshi H (July 2016).
2474:"Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome"
2007:
2003:
1995:
1987:
1968:
1944:
1836:
1816:
1703:
1683:
1679:
1657:
1638:
1508:
1438:
1401:
1343:
1322:
1314:
226:
123:
73:
6121:
Claypool SM, Boontheung P, McCaffery JM, Loo JA, Koehler CM (December 2008).
5688:
3872:"Cardiolipin acts as a mitochondrial signalling platform to launch apoptosis"
2732:
Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013).
2208:
1760:, and dramatic late catch-up growth after growth delay throughout childhood.
1142:
6355:"The extent of linkage disequilibrium caused by selection on G6PD in humans"
6138:
6016:
5742:
5725:
5463:
Pathak S, Meng WJ, Zhang H, Gnosa S, Nandy SK, Adell G, et al. (2014).
5282:
Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E (January 2012).
4929:
3837:
3648:
3540:
3031:
2587:
2490:
2388:
2026:
1930:
1915:
1896:
1892:
1849:
1844:
1675:
1663:
1537:
1454:
1351:
1302:
1204:
722:
470:
348:
293:
280:
192:
179:
81:
7237:
Knowledge (XXG) articles with corresponding academic peer reviewed articles
6423:
6414:
6397:
6388:
6345:
6302:
6293:
6276:
6267:
6238:
6199:
6156:
6113:
6070:
6035:
5982:
5930:
5882:
5853:
5816:
5786:
5706:
5649:
5598:
5546:
5508:
5444:
5436:
5409:
5352:
5317:
5265:
5175:
5123:
5074:
5036:
5017:
5001:"Natural history of Barth syndrome: a national cohort study of 22 patients"
4965:
4899:
4856:
10.1002/(SICI)1096-8628(19971031)72:3<257::AID-AJMG2>3.0.CO;2-O
4827:
4778:
4743:
4694:
4637:
4596:
4551:
4476:
4441:
4384:
4348:
4329:
4280:
4201:
4152:
4060:
3998:
3963:
3897:
3856:
3797:
3749:
3667:
3608:
3559:
3508:
3460:
3411:
3376:
3357:
3325:
3274:
3233:
3181:
3132:
3050:
2994:
2942:
2893:
2767:
2718:
2652:
2606:
2509:
2455:
2446:
2429:
2407:
2226:
6396:
Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJ (October 2003).
4937:
4863:
4237:
4109:
3945:
3708:
3590:
3392:
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
2976:
2836:
2643:
2626:
2372:"Characterization of tafazzin splice variants from humans and fruit flies"
2234:
1400:(IMS). Tafazzin's characteristic interfacial anchoring is achieved by its
1092:
1087:
6516:
6353:
Saunders MA, Slatkin M, Garner C, Hammer MF, Nachman MW (November 2005).
6181:
5874:
5768:
4629:
3919:
3789:
3114:
2160:
1999:
1926:
1903:
1900:
1869:
1784:
1729:
1388:
for directing the protein to the mitochondria, forming residues 84–95 in
1313:. The structure of the encoded protein has been found to differ at their
1192:
1125:
1076:
867:
848:
3922:
for "TAZ - Tafazzin - Homo sapiens (Human) - TAZ gene & protein" at
3681:
Hoffmann B, Stöckl A, Schlame M, Beyer K, Klingenberg M (January 1994).
3306:
3215:
2569:
Huang W, Lv X, Liu C, Zha Z, Zhang H, Jiang Y, et al. (July 2012).
6327:
5376:"Neutropenia in Barth syndrome: characteristics, risks, and management"
4587:
3923:
2828:
2138:
1516:
1381:
1207:
1154:
834:
789:
7242:
Knowledge (XXG) articles with corresponding articles published in Gene
6084:
Laboratory Investigation; A Journal of Technical Methods and Pathology
4533:
4376:
4272:
6797:
6625:
6620:
6561:
3249:"Membrane curvature modulation of protein activity determined by NMR"
1808:
1570:
1247:
1060:
744:
6259:
4725:
6679:
6566:
6043:
van Werkhoven MA, Thorburn DR, Gedeon AK, Pitt JJ (October 2006).
2534:
2118:
1278:
1270:
4015:
2548:
This article incorporates text from this source, which is in the
2356:
This article incorporates text from this source, which is in the
1815:, is currently being tested in clinical trials. Further, dietary
707:
703:
7173:
7168:
7148:
7138:
7133:
7128:
7050:
7045:
7040:
7035:
7025:
7020:
6995:
6990:
6980:
6975:
6970:
6965:
6932:
6583:
6439:
GeneReviews/NCBI/NIH/UW entry on Dilated Cardiomyopathy Overview
5146:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
4880:
American Journal of Physiology. Heart and Circulatory Physiology
2103:
1748:, motor delay, poor appetite, fatigue and exercise intolerance,
1744:, isolated noncompaction of left ventricular myocardium (INVM),
1500:
1488:
Tafazzin and cardiolipin in mitochondrial structure and function
1389:
1161:
61:
6839:
6457:
4406:
Kim GB, Kwon BS, Bae EJ, Noh CI, Seong MW, Park SS (May 2013).
1609:(CL), the signature lipid of the mitochondrial inner membrane.
5949:"A novel custom resequencing array for dilated cardiomyopathy"
5899:
interaction network: a resource for annotating the proteome".
2858:
Xu Y, Malhotra A, Claypool SM, Ren M, Schlame M (March 2015).
2154:
6275:
Ma L, Vaz FM, Gu Z, Wanders RJ, Greenberg ML (October 2004).
4076:"Barth syndrome may be due to an acyltransferase deficiency"
3097:
Whited K, Baile MG, Currier P, Claypool SM (February 2013).
2054:
indicates a possible association between PI3K signaling and
1994:, a condition characterized by a decline in total number of
1914:. Additional symptoms of musculoskeletal pathology include
4661:"Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy"
3724:"Cardiolipin: a proton trap for oxidative phosphorylation"
3483:"The enigmatic role of tafazzin in cardiolipin metabolism"
6312:"From ORFeome to biology: a functional genomics pipeline"
5090:"Barth syndrome is associated with a cognitive phenotype"
3524:"The Basis for Acyl Specificity in the Tafazzin Reaction"
2625:
Ge L, Li DS, Chen F, Feng JD, Li B, Wang TJ (July 2017).
1959:
Metabolic disorders in BTHS are exhibited in the form of
1895:
is exhibited in varying forms in BTHS patients. A common
1596:(BTHS) is an X-linked disease caused by mutations in the
1557:
has also been associated with various cancers, including
1396:(IMM) and outer mitochondrial membrane (OMM), facing the
1218:
gene have been associated with mitochondrial deficiency,
5671:. Molecular Mechanisms in Integral Membrane Enzymology.
3247:
Epand RM, D'Souza K, Berno B, Schlame M (January 2015).
1978:, which have shown significant improvement in patients.
1835:
is a prominent feature of Barth syndrome. The change in
317:
2786:
Cardiac Organellar Protein Atlas Knowledgebase (COPaKB)
1686:
consequences. Common clinical manifestations include:
1357:, His-77, as part of the conserved HX4D motif seen in
1309:
gene produces a 21.3 kDa protein composed of 184
623:
mitochondrial ATP synthesis coupled electron transport
531:
1-acylglycerophosphocholine O-acyltransferase activity
6078:
Acehan D, Xu Y, Stokes DL, Schlame M (January 2007).
5193:
Handbook of Neurochemistry and Molecular Neurobiology
3198:
Herndon JD, Claypool SM, Koehler CM (December 2013).
3099:"Seven functional classes of Barth syndrome mutation"
536:
1-acylglycerol-3-phosphate O-acyltransferase activity
482:
4792:
Shemisa K, Li J, Tam M, Barcena J (September 2013).
2428:
Xu Y, Malhotra A, Ren M, Schlame M (December 2006).
1864:
is primarily exhibited in multiple forms, including
673:
positive regulation of cardiolipin metabolic process
7099:
6886:
6737:
6688:
6500:
1269:gene was frequently confused with a protein called
1136:
1124:
1116:
1111:
1106:
1005:
968:
926:
885:
5094:Journal of Developmental and Behavioral Pediatrics
3876:Biochimica et Biophysica Acta (BBA) - Biomembranes
3487:Biochimica et Biophysica Acta (BBA) - Biomembranes
3253:Biochimica et Biophysica Acta (BBA) - Biomembranes
2280:
2278:
2276:
2259:
2257:
2255:
1503:linked to three glycerol moietie localized in the
638:mitochondrial respiratory chain complex I assembly
5088:Mazzocco MM, Henry AE, Kelly RI (February 2007).
3913:
3911:
3909:
3907:
1843:caused by defective tafazzin can cause defective
264:
163:
5232:"Scavenging of H2O2 by mouse brain mitochondria"
1918:, delayed motor development, short stature, and
1605:is responsible for remodeling of a phospholipid
5284:"The 3-methylglutaconic acidurias: what's new?"
4794:"Left ventricular noncompaction cardiomyopathy"
3476:
3474:
3472:
3470:
2907:Hijikata A, Yura K, Ohara O, Go M (June 2015).
2810:
2808:
2806:
2467:
2465:
2423:
2421:
2419:
2417:
1666:of Barth Syndrome encompass a wide range, with
678:positive regulation of ATP biosynthetic process
3930:"UniProt: the universal protein knowledgebase"
2285:GRCm38: Ensembl release 89: ENSMUSG00000009995
1195:of the tafazzin protein are produced from the
6851:
6469:
1404:sequence from residues 215–232. Finally, the
8:
6675:2-acylglycerol-3-phosphate O-acyltransferase
6670:1-acylglycerol-3-phosphate O-acyltransferase
4618:American Journal of Medical Genetics. Part A
3918:Universal protein resource accession number
3778:American Journal of Medical Genetics. Part A
3152:Journal of Molecular and Cellular Cardiology
3146:Dinca AA, Chien WM, Chin MT (January 2018).
1185:phospholipid:diacylglycerol acyltransferases
5863:American Journal of Medical Genetics Part A
3624:"Cardiolipin puts the seal on ATP synthase"
2264:GRCh38: Ensembl release 89: ENSG00000102125
1763:A c.348C>T mutation resulted in dilated
7212:United States National Library of Medicine
7103:
6890:
6858:
6844:
6836:
6476:
6462:
6454:
882:
718:
508:
305:
204:
101:
6446:at the U.S. National Library of Medicine
6413:
6378:
6335:
6292:
6220:
6189:
6146:
6103:
6060:
6025:
6015:
5972:
5920:
5776:
5741:
5696:
5663:Schlame, Michael; Xu, Yang (2020-08-21).
5639:
5629:
5588:
5498:
5488:
5399:
5307:
5255:
5236:Journal of Bioenergetics and Biomembranes
5165:
5113:
5026:
5016:
4817:
4733:
4684:
4586:
4541:
4431:
4338:
4328:
4191:
4099:
3953:
3887:
3846:
3836:
3739:
3698:
3657:
3647:
3598:
3549:
3539:
3498:
3450:
3431:Journal of Bioenergetics and Biomembranes
3425:Ye C, Shen Z, Greenberg ML (April 2016).
3366:
3356:
3315:
3305:
3264:
3223:
3171:
3122:
3040:
3030:
2984:
2932:
2883:
2757:
2708:
2698:
2642:
2596:
2586:
2499:
2489:
2445:
2397:
2387:
2341:
2339:
2337:
2335:
2333:
2216:
2021:has been found to be highly expressed in
688:inner mitochondrial membrane organization
7210:This article incorporates text from the
3722:Haines TH, Dencher NA (September 2002).
2141:, an Italian comedy character played by
1947:chains. Finally, the brain has a higher
1629:fatty acyl composition, accumulation of
1329:124 and 195 in the central region. This
4016:"Barth Syndrome Foundation : Home"
3068:. Springer Singapore. pp. 77–119.
2251:
1519:. Further, CL plays important roles in
1187:). It catalyzes remodeling of immature
6945:Choline-phosphate cytidylyltransferase
6665:Glycerol-3-phosphate O-acyltransferase
5566:
5564:
5520:
5518:
5458:
5456:
5454:
5288:Journal of Inherited Metabolic Disease
5277:
5275:
5135:
5133:
5048:
5046:
4981:
4971:
4133:Journal of Inherited Metabolic Disease
3622:Mehdipour AR, Hummer G (August 2016).
2668:
2666:
2664:
2662:
2620:
2618:
2616:
2564:
2562:
2560:
2558:
2529:
2527:
2525:
2523:
2521:
2519:
2129:The protein was discovered in 1996 by
1479:Acyl specificity and sensing curvature
1103:
18:
6658:Lecithin—cholesterol acyltransferase
5834:Blood Cells, Molecules & Diseases
4960:. University of Washington, Seattle.
4949:
4947:
4911:
4909:
4610:
4608:
4606:
4306:
4304:
4302:
4300:
4298:
4010:
4008:
3870:Schug ZT, Gottlieb E (October 2009).
3771:
3769:
3767:
3522:Schlame M, Xu Y, Ren M (March 2017).
3193:
3191:
3008:
3006:
3004:
2954:
2952:
1600:gene. More than 160 mutations in the
269:
230:
225:
168:
127:
122:
7:
6653:Glyceronephosphate O-acyltransferase
4918:American Journal of Medical Genetics
4844:American Journal of Medical Genetics
4798:Cardiovascular Diagnosis and Therapy
4218:Journal of the Neurological Sciences
3288:Minkler PE, Hoppel CL (April 2010).
2430:"The enzymatic function of tafazzin"
6825:Sulfoacetaldehyde acetyltransferase
6517:Acetyl-Coenzyme A acetyltransferase
6402:The Journal of Biological Chemistry
6281:The Journal of Biological Chemistry
5527:Molecular and Cellular Biochemistry
4810:10.3978/j.issn.2223-3652.2013.05.04
3825:The Journal of Biological Chemistry
3687:The Journal of Biological Chemistry
3528:The Journal of Biological Chemistry
3345:The Journal of Biological Chemistry
3019:The Journal of Biological Chemistry
2575:The Journal of Biological Chemistry
2478:The Journal of Biological Chemistry
2434:The Journal of Biological Chemistry
2376:The Journal of Biological Chemistry
1998:in circulation with an increase in
1906:. It worsens when present with the
1775:of c.227delC displayed symptoms of
1301:at position 28 and it spans 10,208
1203:leader sequence and may exist as a
6959:phosphatidylinositol glycan anchor
6741:: converted into alkyl on transfer
5345:10.1111/j.1651-2227.2004.tb02974.x
5106:10.1097/01.DBP.0000257519.79803.90
2673:Chen M, Zhang Y, Zheng PS (2017).
1803:, an agent which protects CL from
1164:. Tafazzin is highly expressed in
1002:
965:
923:
858:
839:
813:
794:
768:
749:
663:skeletal muscle tissue development
487:
405:
343:
322:
14:
6547:Chloramphenicol acetyltransferase
5055:Molecular Genetics and Metabolism
5005:Orphanet Journal of Rare Diseases
4659:Ikon N, Ryan RO (February 2017).
4412:Journal of Korean Medical Science
4317:Orphanet Journal of Rare Diseases
4041:Molecular Genetics and Metabolism
2631:International Journal of Oncology
2031:epithelial-mesenchymal transition
1410:translocase of the inner membrane
1406:translocase of the outer membrane
1265:It is important to note that the
1157:that in humans is encoded by the
658:cardiolipin acyl-chain remodeling
628:cardiac muscle tissue development
6599:Carnitine O-palmitoyltransferase
2543:
2351:
2159:
2080:Tafazzin has been shown to have
2058:as both were highly elevated in
1350:in that it contains a conserved
648:cardiolipin biosynthetic process
253:
246:
240:
217:
152:
145:
139:
114:
7189:Phosphoric monoester hydrolases
6542:Beta-galactoside transacetylase
5726:"Mouse model of Barth syndrome"
4522:British Journal of Pharmacology
3940:(D1): D158–D169. January 2017.
1990:pathology for BTHS patients is
1637:levels. This may lead to acute
1625:metabolism, including aberrant
1532:in channeling protons into the
592:intrinsic component of membrane
7194:Inositol-phosphate phosphatase
6557:Serotonin N-acetyl transferase
6504:: other than amino-acyl groups
5922:11858/00-001M-0000-0010-8592-0
5797:European Journal of Pediatrics
5641:11858/00-001M-0000-000E-DDDF-4
4457:European Journal of Pediatrics
4261:British Journal of Haematology
1791:, and other major symptoms of
1232:left ventricular noncompaction
668:phospholipid metabolic process
562:integral component of membrane
471:More reference expression data
367:right hemisphere of cerebellum
1:
6722:Keratinocyte transglutaminase
6702:Gamma-glutamyl transpeptidase
6616:Serine C-palmitoyltransferase
6248:Biochemistry and Cell Biology
6166:"The LIFEdb database in 2006"
6127:Molecular Biology of the Cell
5736:(47): 1427. 9 December 2010.
5590:10.1158/1078-0432.CCR-04-0053
5380:Current Opinion in Hematology
4579:10.1016/j.plipres.2013.06.002
4101:10.1016/S0960-9822(06)00237-5
3991:10.1016/s0022-3476(99)70126-5
3741:10.1016/s0014-5793(02)03292-1
3700:10.1016/S0021-9258(17)42117-X
3066:Advances in Membrane Proteins
2750:10.1161/CIRCRESAHA.113.301151
2084:with the following and more.
1771:myocardium. A patient with a
1694:(enlarged and weakened heart)
693:regulation of gene expression
238:
137:
6643:Aminolevulinic acid synthase
6537:Acetyl-CoA C-acyltransferase
6532:Dihydrolipoyl transacetylase
6209:Journal of Molecular Biology
5965:10.1097/GIM.0b013e3181d6f7c0
5669:Journal of Molecular Biology
5490:10.1371/journal.pone.0098317
5392:10.1097/MOH.0000000000000472
5158:10.1016/j.bbadis.2018.07.022
4230:10.1016/0022-510x(83)90209-5
3889:10.1016/j.bbamem.2009.05.004
3500:10.1016/j.bbamem.2009.07.009
3404:10.1016/j.bbalip.2012.11.007
3266:10.1016/j.bbamem.2014.05.004
2700:10.1371/journal.pone.0177171
2082:protein-protein interactions
1740:Additional features include
1507:. These acyl groups include
1505:mitochondrial inner membrane
1394:inner mitochondrial membrane
587:mitochondrial inner membrane
7232:Genes on human chromosome X
6805:2-hydroxyglutarate synthase
6371:10.1534/genetics.105.048140
5207:10.1007/978-0-387-30378-9_8
5067:10.1016/j.ymgme.2014.03.007
4892:10.1152/ajpheart.00479.2010
4771:10.1016/j.jpeds.2016.12.070
4053:10.1016/j.ymgme.2012.01.015
3164:10.1016/j.yjmcc.2017.11.005
3074:10.1007/978-981-13-0532-0_4
2961:"Tafazzin senses curvature"
2959:Gawrisch K (October 2012).
2925:10.1016/j.mgene.2015.04.001
2191:. Gene Wiki Review Series.
1961:3-methylglutaconic aciduria
1742:hypertrophic cardiomyopathy
1563:papillary thyroid carcinoma
1445:interacts with an immature
1240:papillary thyroid carcinoma
375:right lobe of thyroid gland
7273:
6815:2-isopropylmalate synthase
6648:Beta-ketoacyl-ACP synthase
6522:N-Acetylglutamate synthase
6176:(Database issue): D415–8.
6062:10.1194/jlr.D600024-JLR200
5913:10.1016/j.cell.2005.08.029
5846:10.1016/j.bcmd.2008.11.004
5631:10.1016/j.cell.2012.11.053
4567:Progress in Lipid Research
4424:10.3346/jkms.2013.28.5.784
4193:10.1194/jlr.M500056-JLR200
4074:Neuwald AF (August 1997).
2876:10.1016/j.mito.2015.01.002
2201:10.1016/J.GENE.2019.144148
1819:have been used to enhance
1807:to maintain mitochondrial
1767:with noncompaction of the
1714:endocardial fibroelastosis
1633:(MLCL), and reduced total
1567:non-small cell lung cancer
1244:non-small cell lung cancer
1228:endocardial fibroelastosis
618:cardiac muscle contraction
541:O-acyltransferase activity
387:left lobe of thyroid gland
383:mucosa of transverse colon
7184:
7119:
7106:
7076:
6953:
6923:
6908:Phosphatidate phosphatase
6893:
6763:Decylhomocitrate synthase
6574:Histone acetyltransferase
6527:Choline acetyltransferase
6231:10.1016/j.jmb.2006.06.057
6096:10.1038/labinvest.3700480
6049:Journal of Lipid Research
5809:10.1007/s00431-011-1576-5
5681:10.1016/j.jmb.2020.03.026
5539:10.1007/s11010-015-2549-1
5425:Supportive Cancer Therapy
5300:10.1007/s10545-010-9210-7
5248:10.1007/s10863-014-9581-9
4759:The Journal of Pediatrics
4677:10.1007/s11745-016-4229-7
4469:10.1007/s00431-007-0592-y
4180:Journal of Lipid Research
3979:The Journal of Pediatrics
3443:10.1007/s10863-014-9591-7
3294:Journal of Lipid Research
2320:"Mouse PubMed Reference:"
2302:"Human PubMed Reference:"
2172:article was published in
2033:(EMT). The findings that
1885:Musculoskeletal pathology
1813:oxidative phosphorylation
1521:oxidative phosphorylation
1449:by adding the fatty acid
1432:Transacylase (remodeling)
1340:intermembrane space (IMS)
1226:(DCM), hypertrophic DCM,
1091:
1086:
1082:
1075:
1059:
1046:Chr X: 154.41 – 154.42 Mb
1040:
1009:
972:
961:
930:
909:
878:
865:
861:
846:
842:
833:
820:
816:
801:
797:
788:
775:
771:
756:
752:
743:
728:
721:
717:
701:
511:
507:
495:
490:
481:
468:
417:
408:
355:
346:
316:
308:
304:
287:
274:
237:
216:
207:
203:
186:
173:
136:
113:
104:
100:
55:
52:
42:
35:
30:
26:
21:
6768:2-methylcitrate synthase
6448:Medical Subject Headings
5577:Clinical Cancer Research
5197:. Springer US. pp.
3103:Human Molecular Genetics
2133:scientists Silvia Bione
1872:. Some mutations in the
1828:Cardiovascular pathology
1639:metabolic decompensation
1346:. Tafazzin differs from
526:acyltransferase activity
6810:3-propylmalate synthase
6717:Tissue transglutaminase
6139:10.1091/mbc.E08-09-0896
6017:10.1073/pnas.0811224106
5743:10.1038/scibx.2010.1427
4930:10.1002/ajmg.1320450309
4516:Szeto HH (April 2014).
4145:10.1023/A:1005568609936
3838:10.1074/jbc.M113.525733
3649:10.1073/pnas.1609806113
3579:Nature Chemical Biology
3541:10.1074/jbc.M116.769182
3032:10.1074/jbc.M116.718510
2965:Nature Chemical Biology
2588:10.1074/jbc.M112.382036
2539:Genetics Home Reference
2491:10.1074/jbc.M110.171439
2389:10.1074/jbc.M109.016642
2006:and no fluctuations in
1965:3‐methylglutaconic acid
1854:reactive oxygen species
1734:3-methylglutaconic acid
1648:Additionally, affected
1342:, which is crucial for
1293:gene is located on the
1053:Chr X: 73.33 – 73.33 Mb
572:mitochondrial membranes
16:Protein found in humans
7257:Mitochondrial diseases
6778:3-ethylmalate synthase
6773:2-ethylmalate synthase
6638:Acyltransferase like 2
6415:10.1074/jbc.M305956200
6294:10.1074/jbc.M405479200
6170:Nucleic Acids Research
5437:10.3816/SCT.2006.n.020
5018:10.1186/1750-1172-8-70
4497:Clinical trial number
4330:10.1186/1750-1172-8-23
3934:Nucleic Acids Research
3358:10.1074/jbc.M805511200
2447:10.1074/jbc.M606100200
2170:academic peer reviewed
1938:Neurological pathology
1866:dilated cardiomyopathy
1746:ventricular arrhythmia
1224:dilated cardiomyopathy
445:skeletal muscle tissue
421:neural layer of retina
271:X A7.3|X 37.95 cM
7124:Diacylglycerol kinase
6758:Citrate (Re)-synthase
6753:Decylcitrate synthase
6694:Aminoacyltransferases
6594:palmitoyltransferases
4020:www.barthsyndrome.org
3591:10.1038/nchembio.1064
2977:10.1038/nchembio.1068
2644:10.3892/ijo.2017.3998
1982:Hematologic pathology
1544:Clinical significance
1172:, and functions as a
6820:Homocitrate synthase
6707:Peptidyl transferase
5953:Genetics in Medicine
5875:10.1002/ajmg.a.30661
5769:10.1089/hum.2010.199
4630:10.1002/ajmg.a.35609
3790:10.1002/ajmg.a.20660
2738:Circulation Research
2178:and can be cited as:
1773:frame shift mutation
1534:mitochondrial matrix
1499:which contains four
232:X chromosome (mouse)
130:X chromosome (human)
94:TAFAZZIN - orthologs
6552:N-acetyltransferase
6008:2009PNAS..106.2337M
5481:2014PLoSO...998317P
4092:1997CBio....7R.462N
3946:10.1093/nar/gkw1099
3640:2016PNAS..113.8568M
3307:10.1194/jlr.D002857
3216:10.1128/EC.00237-13
2691:2017PLoSO..1277171C
2025:cells resistant to
1955:Metabolic disorders
1641:and sudden death.
1631:monolysocardiolipin
1526:intermembrane space
1497:glycerophospholipid
1464:phosphatidylcholine
1398:intermembrane space
1384:independent of its
433:submandibular gland
395:canal of the cervix
7214:, which is in the
6512:acetyltransferases
6444:TAZ+protein,+human
6328:10.1101/gr.2576704
6182:10.1093/nar/gkj139
5757:Human Gene Therapy
4505:ClinicalTrials.gov
3115:10.1093/hmg/dds447
2829:10.1038/ng0496-385
1881:) can also occur.
1841:lipid peroxidation
1719:growth retardation
1380:gene contains two
1210:rather than being
823:ENSMUSG00000009995
613:muscle contraction
606:Biological process
550:Cellular component
519:Molecular function
7206:
7205:
7202:
7201:
7095:
7094:
6833:
6832:
6783:ATP citrate lyase
5675:(18): 5043–5051.
5152:(10): 3353–3367.
4534:10.1111/bph.12461
4377:10.1111/cge.12756
4365:Clinical Genetics
4273:10.1111/bjh.12271
3534:(13): 5499–5506.
3259:(1 Pt B): 220–8.
3025:(30): 15491–502.
2243:
2242:
1920:facial dysmorphia
1650:white blood cells
1579:thyroid neoplasms
1548:Mutations in the
1256:thyroid neoplasms
1148:
1147:
1102:
1101:
1098:
1097:
1071:
1070:
1036:
1035:
999:
998:
957:
956:
920:
919:
874:
873:
855:
854:
829:
828:
810:
809:
784:
783:
765:
764:
713:
712:
643:heart development
633:cristae formation
503:
502:
499:
498:
477:
476:
464:
463:
402:
401:
300:
299:
199:
198:
7264:
7104:
6891:
6873:lipid metabolism
6860:
6853:
6846:
6837:
6793:HMG-CoA synthase
6748:Citrate synthase
6712:Transglutaminase
6489:acyltransferases
6478:
6471:
6464:
6455:
6427:
6417:
6408:(44): 43089–94.
6392:
6382:
6349:
6339:
6322:(10B): 2136–44.
6306:
6296:
6271:
6242:
6224:
6203:
6193:
6160:
6150:
6117:
6107:
6074:
6064:
6039:
6029:
6019:
5986:
5976:
5942:
5924:
5894:
5857:
5828:
5790:
5780:
5747:
5745:
5711:
5710:
5700:
5660:
5654:
5653:
5643:
5633:
5609:
5603:
5602:
5592:
5568:
5559:
5558:
5522:
5513:
5512:
5502:
5492:
5460:
5449:
5448:
5420:
5414:
5413:
5403:
5371:
5365:
5364:
5333:Acta Paediatrica
5328:
5322:
5321:
5311:
5279:
5270:
5269:
5259:
5227:
5221:
5220:
5196:
5186:
5180:
5179:
5169:
5137:
5128:
5127:
5117:
5085:
5079:
5078:
5050:
5041:
5040:
5030:
5020:
4996:
4990:
4989:
4983:
4979:
4977:
4969:
4951:
4942:
4941:
4913:
4904:
4903:
4874:
4868:
4867:
4838:
4832:
4831:
4821:
4789:
4783:
4782:
4754:
4748:
4747:
4737:
4705:
4699:
4698:
4688:
4656:
4650:
4649:
4612:
4601:
4600:
4590:
4562:
4556:
4555:
4545:
4513:
4507:
4495:
4489:
4488:
4452:
4446:
4445:
4435:
4403:
4397:
4396:
4359:
4353:
4352:
4342:
4332:
4313:"Barth syndrome"
4308:
4293:
4292:
4256:
4250:
4249:
4212:
4206:
4205:
4195:
4171:
4165:
4164:
4128:
4122:
4121:
4103:
4071:
4065:
4064:
4036:
4030:
4029:
4027:
4026:
4012:
4003:
4002:
3974:
3968:
3967:
3957:
3927:
3915:
3902:
3901:
3891:
3867:
3861:
3860:
3850:
3840:
3816:
3810:
3809:
3773:
3762:
3761:
3743:
3719:
3713:
3712:
3702:
3678:
3672:
3671:
3661:
3651:
3619:
3613:
3612:
3602:
3570:
3564:
3563:
3553:
3543:
3519:
3513:
3512:
3502:
3478:
3465:
3464:
3454:
3422:
3416:
3415:
3387:
3381:
3380:
3370:
3360:
3336:
3330:
3329:
3319:
3309:
3285:
3279:
3278:
3268:
3244:
3238:
3237:
3227:
3195:
3186:
3185:
3175:
3143:
3137:
3136:
3126:
3094:
3088:
3087:
3061:
3055:
3054:
3044:
3034:
3010:
2999:
2998:
2988:
2956:
2947:
2946:
2936:
2904:
2898:
2897:
2887:
2855:
2849:
2848:
2812:
2801:
2800:
2798:
2797:
2788:. Archived from
2778:
2772:
2771:
2761:
2729:
2723:
2722:
2712:
2702:
2670:
2657:
2656:
2646:
2622:
2611:
2610:
2600:
2590:
2581:(31): 26245–53.
2566:
2553:
2547:
2546:
2542:
2531:
2514:
2513:
2503:
2493:
2469:
2460:
2459:
2449:
2440:(51): 39217–24.
2425:
2412:
2411:
2401:
2391:
2367:
2361:
2355:
2354:
2350:
2343:
2328:
2327:
2316:
2310:
2309:
2298:
2292:
2282:
2271:
2261:
2238:
2220:
2163:
2155:
1839:composition and
1805:oxidative damage
1617:is not added to
1363:serine proteases
1359:acyltransferases
1178:lysophospholipid
1104:
1084:
1083:
1055:
1048:
1031:
1003:
994:
966:
962:RefSeq (protein)
952:
924:
915:
883:
859:
840:
814:
795:
769:
750:
719:
509:
488:
473:
457:lobe of prostate
413:
411:Top expressed in
406:
351:
349:Top expressed in
344:
323:
306:
296:
283:
272:
257:
250:
244:
233:
221:
205:
195:
182:
171:
156:
149:
143:
132:
118:
102:
96:
47:
40:
19:
7272:
7271:
7267:
7266:
7265:
7263:
7262:
7261:
7222:
7221:
7207:
7198:
7180:
7115:
7111:Phospholipase C
7091:
7072:
6949:
6919:
6903:Acyltransferase
6882:
6864:
6834:
6829:
6788:Malate synthase
6733:
6684:
6496:
6482:
6435:
6430:
6395:
6352:
6316:Genome Research
6309:
6287:(43): 44394–9.
6274:
6260:10.1139/o04-055
6245:
6222:10.1.1.314.3366
6206:
6163:
6133:(12): 5143–55.
6120:
6077:
6055:(10): 2346–51.
6042:
5989:
5945:
5897:
5860:
5831:
5793:
5750:
5724:
5720:
5718:Further reading
5715:
5714:
5662:
5661:
5657:
5611:
5610:
5606:
5583:(19): 6586–97.
5570:
5569:
5562:
5533:(1–2): 175–85.
5524:
5523:
5516:
5462:
5461:
5452:
5422:
5421:
5417:
5373:
5372:
5368:
5330:
5329:
5325:
5281:
5280:
5273:
5229:
5228:
5224:
5217:
5188:
5187:
5183:
5139:
5138:
5131:
5087:
5086:
5082:
5052:
5051:
5044:
4998:
4997:
4993:
4980:
4970:
4953:
4952:
4945:
4915:
4914:
4907:
4876:
4875:
4871:
4840:
4839:
4835:
4791:
4790:
4786:
4756:
4755:
4751:
4726:10.1038/nm.3545
4714:Nature Medicine
4707:
4706:
4702:
4658:
4657:
4653:
4624:(11): 2726–32.
4614:
4613:
4604:
4564:
4563:
4559:
4515:
4514:
4510:
4496:
4492:
4454:
4453:
4449:
4405:
4404:
4400:
4361:
4360:
4356:
4310:
4309:
4296:
4258:
4257:
4253:
4224:(1–3): 327–55.
4214:
4213:
4209:
4173:
4172:
4168:
4130:
4129:
4125:
4080:Current Biology
4073:
4072:
4068:
4038:
4037:
4033:
4024:
4022:
4014:
4013:
4006:
3976:
3975:
3971:
3928:
3917:
3916:
3905:
3882:(10): 2022–31.
3869:
3868:
3864:
3818:
3817:
3813:
3775:
3774:
3765:
3721:
3720:
3716:
3680:
3679:
3675:
3634:(31): 8568–70.
3621:
3620:
3616:
3572:
3571:
3567:
3521:
3520:
3516:
3493:(10): 2003–14.
3480:
3479:
3468:
3424:
3423:
3419:
3389:
3388:
3384:
3351:(17): 11572–8.
3338:
3337:
3333:
3287:
3286:
3282:
3246:
3245:
3241:
3204:Eukaryotic Cell
3197:
3196:
3189:
3145:
3144:
3140:
3096:
3095:
3091:
3084:
3063:
3062:
3058:
3012:
3011:
3002:
2958:
2957:
2950:
2906:
2905:
2901:
2857:
2856:
2852:
2817:Nature Genetics
2814:
2813:
2804:
2795:
2793:
2780:
2779:
2775:
2731:
2730:
2726:
2685:(5): e0177171.
2672:
2671:
2660:
2624:
2623:
2614:
2568:
2567:
2556:
2544:
2533:
2532:
2517:
2471:
2470:
2463:
2427:
2426:
2415:
2382:(42): 29230–9.
2369:
2368:
2364:
2352:
2345:
2344:
2331:
2318:
2317:
2313:
2300:
2299:
2295:
2283:
2274:
2262:
2253:
2248:
2239:
2180:
2179:
2164:
2151:
2143:Giacomo Poretti
2127:
2078:
2016:
1984:
1976:
1957:
1940:
1890:Musculoskeletal
1887:
1830:
1754:lactic acidosis
1698:muscle weakness
1672:musculoskeletal
1591:
1546:
1490:
1481:
1434:
1418:
1321:stretch at the
1287:
1183:(it belongs to
1170:skeletal muscle
1093:View/Edit Mouse
1088:View/Edit Human
1051:
1044:
1041:Location (UCSC)
1027:
1023:
1019:
1015:
1011:
990:
986:
982:
978:
974:
948:
944:
940:
936:
932:
911:
905:
901:
897:
893:
889:
804:ENSG00000102125
697:
601:
545:
469:
460:
455:
451:
447:
443:
439:
435:
431:
427:
425:muscle of thigh
423:
409:
398:
393:
389:
385:
381:
377:
373:
369:
365:
361:
347:
291:
278:
270:
260:
259:
258:
251:
231:
208:Gene location (
190:
177:
169:
159:
158:
157:
150:
128:
105:Gene location (
56:
43:
36:
17:
12:
11:
5:
7270:
7268:
7260:
7259:
7254:
7249:
7244:
7239:
7234:
7224:
7223:
7204:
7203:
7200:
7199:
7197:
7196:
7191:
7185:
7182:
7181:
7179:
7178:
7177:
7176:
7171:
7166:
7161:
7156:
7151:
7146:
7141:
7136:
7131:
7120:
7117:
7116:
7114:
7113:
7107:
7101:
7097:
7096:
7093:
7092:
7090:
7089:
7077:
7074:
7073:
7071:
7070:
7069:
7068:
7063:
7058:
7053:
7048:
7043:
7038:
7033:
7028:
7023:
7018:
7013:
7008:
7003:
6998:
6993:
6988:
6983:
6978:
6973:
6968:
6954:
6951:
6950:
6948:
6947:
6942:
6941:
6940:
6935:
6928:Choline kinase
6924:
6921:
6920:
6918:
6917:
6916:
6915:
6905:
6899:diacylglycerol
6894:
6888:
6884:
6883:
6881:
6880:
6875:
6865:
6863:
6862:
6855:
6848:
6840:
6831:
6830:
6828:
6827:
6822:
6817:
6812:
6807:
6802:
6801:
6800:
6790:
6785:
6780:
6775:
6770:
6765:
6760:
6755:
6750:
6744:
6742:
6735:
6734:
6732:
6731:
6730:
6729:
6724:
6719:
6709:
6704:
6698:
6696:
6686:
6685:
6683:
6682:
6677:
6672:
6667:
6661:
6660:
6655:
6650:
6645:
6640:
6631:
6630:
6629:
6628:
6623:
6613:
6612:
6611:
6606:
6589:
6588:
6587:
6586:
6581:
6571:
6570:
6569:
6564:
6559:
6549:
6544:
6539:
6534:
6529:
6524:
6519:
6507:
6505:
6498:
6497:
6483:
6481:
6480:
6473:
6466:
6458:
6452:
6451:
6441:
6434:
6433:External links
6431:
6429:
6428:
6393:
6365:(3): 1219–29.
6350:
6307:
6272:
6243:
6204:
6161:
6118:
6075:
6040:
6002:(7): 2337–41.
5987:
5943:
5895:
5858:
5829:
5803:(11): 1481–4.
5791:
5748:
5721:
5719:
5716:
5713:
5712:
5655:
5624:(7): 1528–41.
5604:
5560:
5514:
5450:
5415:
5366:
5323:
5271:
5222:
5215:
5181:
5129:
5080:
5042:
4991:
4957:Barth Syndrome
4943:
4905:
4886:(5): H2122-9.
4869:
4833:
4784:
4749:
4700:
4651:
4602:
4557:
4528:(8): 2029–50.
4508:
4490:
4447:
4398:
4371:(5): 461–465.
4354:
4294:
4251:
4207:
4186:(6): 1182–95.
4166:
4123:
4066:
4031:
4004:
3969:
3903:
3862:
3831:(3): 1768–78.
3811:
3763:
3714:
3673:
3614:
3565:
3514:
3466:
3417:
3382:
3331:
3280:
3239:
3210:(12): 1600–8.
3187:
3138:
3089:
3082:
3056:
3000:
2948:
2899:
2850:
2802:
2782:"TAZ Tafazzin"
2773:
2744:(9): 1043–53.
2724:
2658:
2637:(1): 307–315.
2612:
2554:
2515:
2484:(2): 899–908.
2461:
2413:
2362:
2329:
2311:
2293:
2272:
2250:
2249:
2247:
2244:
2241:
2240:
2167:
2165:
2158:
2150:
2147:
2126:
2123:
2122:
2121:
2116:
2111:
2106:
2101:
2096:
2091:
2077:
2074:
2023:gastric cancer
2015:
2012:
1983:
1980:
1974:
1956:
1953:
1939:
1936:
1912:Barth syndrome
1908:cardiovascular
1886:
1883:
1862:Barth syndrome
1833:Cardiomyopathy
1829:
1826:
1793:Barth syndrome
1765:cardiomyopathy
1758:hyperammonemia
1738:
1737:
1726:
1721:
1716:
1711:
1706:
1700:
1695:
1692:cardiomyopathy
1668:cardiovascular
1656:and recurrent
1594:Barth syndrome
1590:
1589:Barth syndrome
1587:
1575:gastric cancer
1545:
1542:
1489:
1486:
1480:
1477:
1433:
1430:
1417:
1414:
1408:(TOM) and the
1348:phospholipases
1286:
1283:
1252:gastric cancer
1220:Barth syndrome
1212:membrane-bound
1146:
1145:
1140:
1134:
1133:
1128:
1122:
1121:
1118:
1114:
1113:
1109:
1108:
1100:
1099:
1096:
1095:
1090:
1080:
1079:
1073:
1072:
1069:
1068:
1066:
1064:
1057:
1056:
1049:
1042:
1038:
1037:
1034:
1033:
1007:
1006:
1000:
997:
996:
970:
969:
963:
959:
958:
955:
954:
928:
927:
921:
918:
917:
907:
906:
880:
876:
875:
872:
871:
863:
862:
856:
853:
852:
844:
843:
837:
831:
830:
827:
826:
818:
817:
811:
808:
807:
799:
798:
792:
786:
785:
782:
781:
773:
772:
766:
763:
762:
754:
753:
747:
741:
740:
735:
730:
726:
725:
715:
714:
711:
710:
699:
698:
696:
695:
690:
685:
680:
675:
670:
665:
660:
655:
650:
645:
640:
635:
630:
625:
620:
615:
609:
607:
603:
602:
600:
599:
594:
589:
584:
579:
574:
569:
564:
559:
553:
551:
547:
546:
544:
543:
538:
533:
528:
522:
520:
516:
515:
505:
504:
501:
500:
497:
496:
493:
492:
485:
479:
478:
475:
474:
466:
465:
462:
461:
459:
458:
454:
450:
446:
442:
438:
434:
430:
426:
422:
418:
415:
414:
403:
400:
399:
397:
396:
392:
388:
384:
380:
376:
372:
368:
364:
360:
356:
353:
352:
340:
339:
331:
320:
314:
313:
310:RNA expression
302:
301:
298:
297:
289:
285:
284:
276:
273:
268:
262:
261:
252:
245:
239:
235:
234:
229:
223:
222:
214:
213:
201:
200:
197:
196:
188:
184:
183:
175:
172:
167:
161:
160:
151:
144:
138:
134:
133:
126:
120:
119:
111:
110:
98:
97:
54:
50:
49:
41:
33:
32:
28:
27:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
7269:
7258:
7255:
7253:
7252:Rare diseases
7250:
7248:
7245:
7243:
7240:
7238:
7235:
7233:
7230:
7229:
7227:
7220:
7219:
7217:
7216:public domain
7213:
7195:
7192:
7190:
7187:
7186:
7183:
7175:
7172:
7170:
7167:
7165:
7162:
7160:
7157:
7155:
7152:
7150:
7147:
7145:
7142:
7140:
7137:
7135:
7132:
7130:
7127:
7126:
7125:
7122:
7121:
7118:
7112:
7109:
7108:
7105:
7102:
7098:
7088:
7084:
7083:
7079:
7078:
7075:
7067:
7064:
7062:
7059:
7057:
7054:
7052:
7049:
7047:
7044:
7042:
7039:
7037:
7034:
7032:
7029:
7027:
7024:
7022:
7019:
7017:
7014:
7012:
7009:
7007:
7004:
7002:
6999:
6997:
6994:
6992:
6989:
6987:
6984:
6982:
6979:
6977:
6974:
6972:
6969:
6967:
6964:
6963:
6962:
6961:biosynthesis:
6960:
6956:
6955:
6952:
6946:
6943:
6939:
6936:
6934:
6931:
6930:
6929:
6926:
6925:
6922:
6914:
6911:
6910:
6909:
6906:
6904:
6900:
6896:
6895:
6892:
6889:
6885:
6879:
6878:phospholipids
6876:
6874:
6870:
6867:
6866:
6861:
6856:
6854:
6849:
6847:
6842:
6841:
6838:
6826:
6823:
6821:
6818:
6816:
6813:
6811:
6808:
6806:
6803:
6799:
6796:
6795:
6794:
6791:
6789:
6786:
6784:
6781:
6779:
6776:
6774:
6771:
6769:
6766:
6764:
6761:
6759:
6756:
6754:
6751:
6749:
6746:
6745:
6743:
6740:
6736:
6728:
6725:
6723:
6720:
6718:
6715:
6714:
6713:
6710:
6708:
6705:
6703:
6700:
6699:
6697:
6695:
6691:
6687:
6681:
6678:
6676:
6673:
6671:
6668:
6666:
6663:
6662:
6659:
6656:
6654:
6651:
6649:
6646:
6644:
6641:
6639:
6636:
6633:
6632:
6627:
6624:
6622:
6619:
6618:
6617:
6614:
6610:
6607:
6605:
6602:
6601:
6600:
6597:
6595:
6591:
6590:
6585:
6582:
6580:
6577:
6576:
6575:
6572:
6568:
6565:
6563:
6560:
6558:
6555:
6554:
6553:
6550:
6548:
6545:
6543:
6540:
6538:
6535:
6533:
6530:
6528:
6525:
6523:
6520:
6518:
6515:
6513:
6509:
6508:
6506:
6503:
6499:
6494:
6490:
6486:
6479:
6474:
6472:
6467:
6465:
6460:
6459:
6456:
6449:
6445:
6442:
6440:
6437:
6436:
6432:
6425:
6421:
6416:
6411:
6407:
6403:
6399:
6394:
6390:
6386:
6381:
6376:
6372:
6368:
6364:
6360:
6356:
6351:
6347:
6343:
6338:
6333:
6329:
6325:
6321:
6317:
6313:
6308:
6304:
6300:
6295:
6290:
6286:
6282:
6278:
6273:
6269:
6265:
6261:
6257:
6254:(5): 569–76.
6253:
6249:
6244:
6240:
6236:
6232:
6228:
6223:
6218:
6214:
6210:
6205:
6201:
6197:
6192:
6187:
6183:
6179:
6175:
6171:
6167:
6162:
6158:
6154:
6149:
6144:
6140:
6136:
6132:
6128:
6124:
6119:
6115:
6111:
6106:
6101:
6097:
6093:
6089:
6085:
6081:
6076:
6072:
6068:
6063:
6058:
6054:
6050:
6046:
6041:
6037:
6033:
6028:
6023:
6018:
6013:
6009:
6005:
6001:
5997:
5993:
5988:
5984:
5980:
5975:
5970:
5966:
5962:
5959:(5): 268–78.
5958:
5954:
5950:
5944:
5940:
5936:
5932:
5928:
5923:
5918:
5914:
5910:
5907:(6): 957–68.
5906:
5902:
5896:
5892:
5888:
5884:
5880:
5876:
5872:
5869:(4): 409–14.
5868:
5864:
5859:
5855:
5851:
5847:
5843:
5839:
5835:
5830:
5826:
5822:
5818:
5814:
5810:
5806:
5802:
5798:
5792:
5788:
5784:
5779:
5774:
5770:
5766:
5763:(7): 865–71.
5762:
5758:
5754:
5749:
5744:
5739:
5735:
5731:
5727:
5723:
5722:
5717:
5708:
5704:
5699:
5694:
5690:
5686:
5682:
5678:
5674:
5670:
5666:
5659:
5656:
5651:
5647:
5642:
5637:
5632:
5627:
5623:
5619:
5615:
5608:
5605:
5600:
5596:
5591:
5586:
5582:
5578:
5574:
5567:
5565:
5561:
5556:
5552:
5548:
5544:
5540:
5536:
5532:
5528:
5521:
5519:
5515:
5510:
5506:
5501:
5496:
5491:
5486:
5482:
5478:
5475:(5): e98317.
5474:
5470:
5466:
5459:
5457:
5455:
5451:
5446:
5442:
5438:
5434:
5431:(4): 220–31.
5430:
5426:
5419:
5416:
5411:
5407:
5402:
5397:
5393:
5389:
5385:
5381:
5377:
5370:
5367:
5362:
5358:
5354:
5350:
5346:
5342:
5339:(3): 419–21.
5338:
5334:
5327:
5324:
5319:
5315:
5310:
5305:
5301:
5297:
5293:
5289:
5285:
5278:
5276:
5272:
5267:
5263:
5258:
5253:
5249:
5245:
5241:
5237:
5233:
5226:
5223:
5218:
5216:9780387303451
5212:
5208:
5204:
5200:
5195:
5194:
5185:
5182:
5177:
5173:
5168:
5163:
5159:
5155:
5151:
5147:
5143:
5136:
5134:
5130:
5125:
5121:
5116:
5111:
5107:
5103:
5099:
5095:
5091:
5084:
5081:
5076:
5072:
5068:
5064:
5060:
5056:
5049:
5047:
5043:
5038:
5034:
5029:
5024:
5019:
5014:
5010:
5006:
5002:
4995:
4992:
4987:
4975:
4967:
4963:
4959:
4958:
4950:
4948:
4944:
4939:
4935:
4931:
4927:
4924:(3): 327–34.
4923:
4919:
4912:
4910:
4906:
4901:
4897:
4893:
4889:
4885:
4881:
4873:
4870:
4865:
4861:
4857:
4853:
4850:(3): 257–65.
4849:
4845:
4837:
4834:
4829:
4825:
4820:
4815:
4811:
4807:
4803:
4799:
4795:
4788:
4785:
4780:
4776:
4772:
4768:
4764:
4760:
4753:
4750:
4745:
4741:
4736:
4731:
4727:
4723:
4720:(6): 616–23.
4719:
4715:
4711:
4704:
4701:
4696:
4692:
4687:
4682:
4678:
4674:
4671:(2): 99–108.
4670:
4666:
4662:
4655:
4652:
4647:
4643:
4639:
4635:
4631:
4627:
4623:
4619:
4611:
4609:
4607:
4603:
4598:
4594:
4589:
4584:
4580:
4576:
4573:(4): 513–28.
4572:
4568:
4561:
4558:
4553:
4549:
4544:
4539:
4535:
4531:
4527:
4523:
4519:
4512:
4509:
4506:
4502:
4501:
4494:
4491:
4486:
4482:
4478:
4474:
4470:
4466:
4462:
4458:
4451:
4448:
4443:
4439:
4434:
4429:
4425:
4421:
4417:
4413:
4409:
4402:
4399:
4394:
4390:
4386:
4382:
4378:
4374:
4370:
4366:
4358:
4355:
4350:
4346:
4341:
4336:
4331:
4326:
4322:
4318:
4314:
4307:
4305:
4303:
4301:
4299:
4295:
4290:
4286:
4282:
4278:
4274:
4270:
4266:
4262:
4255:
4252:
4247:
4243:
4239:
4235:
4231:
4227:
4223:
4219:
4211:
4208:
4203:
4199:
4194:
4189:
4185:
4181:
4177:
4170:
4167:
4162:
4158:
4154:
4150:
4146:
4142:
4139:(4): 555–67.
4138:
4134:
4127:
4124:
4119:
4115:
4111:
4107:
4102:
4097:
4093:
4089:
4086:(8): R465-6.
4085:
4081:
4077:
4070:
4067:
4062:
4058:
4054:
4050:
4047:(1): 115–20.
4046:
4042:
4035:
4032:
4021:
4017:
4011:
4009:
4005:
4000:
3996:
3992:
3988:
3984:
3980:
3973:
3970:
3965:
3961:
3956:
3951:
3947:
3943:
3939:
3935:
3931:
3925:
3921:
3914:
3912:
3910:
3908:
3904:
3899:
3895:
3890:
3885:
3881:
3877:
3873:
3866:
3863:
3858:
3854:
3849:
3844:
3839:
3834:
3830:
3826:
3822:
3815:
3812:
3807:
3803:
3799:
3795:
3791:
3787:
3784:(4): 349–54.
3783:
3779:
3772:
3770:
3768:
3764:
3759:
3755:
3751:
3747:
3742:
3737:
3734:(1–3): 35–9.
3733:
3729:
3725:
3718:
3715:
3710:
3706:
3701:
3696:
3693:(3): 1940–4.
3692:
3688:
3684:
3677:
3674:
3669:
3665:
3660:
3655:
3650:
3645:
3641:
3637:
3633:
3629:
3625:
3618:
3615:
3610:
3606:
3601:
3596:
3592:
3588:
3585:(10): 862–9.
3584:
3580:
3576:
3569:
3566:
3561:
3557:
3552:
3547:
3542:
3537:
3533:
3529:
3525:
3518:
3515:
3510:
3506:
3501:
3496:
3492:
3488:
3484:
3477:
3475:
3473:
3471:
3467:
3462:
3458:
3453:
3448:
3444:
3440:
3437:(2): 113–23.
3436:
3432:
3428:
3421:
3418:
3413:
3409:
3405:
3401:
3397:
3393:
3386:
3383:
3378:
3374:
3369:
3364:
3359:
3354:
3350:
3346:
3342:
3335:
3332:
3327:
3323:
3318:
3313:
3308:
3303:
3300:(4): 856–65.
3299:
3295:
3291:
3284:
3281:
3276:
3272:
3267:
3262:
3258:
3254:
3250:
3243:
3240:
3235:
3231:
3226:
3221:
3217:
3213:
3209:
3205:
3201:
3194:
3192:
3188:
3183:
3179:
3174:
3169:
3165:
3161:
3157:
3153:
3149:
3142:
3139:
3134:
3130:
3125:
3120:
3116:
3112:
3109:(3): 483–92.
3108:
3104:
3100:
3093:
3090:
3085:
3083:9789811305313
3079:
3075:
3071:
3067:
3060:
3057:
3052:
3048:
3043:
3038:
3033:
3028:
3024:
3020:
3016:
3009:
3007:
3005:
3001:
2996:
2992:
2987:
2982:
2978:
2974:
2971:(10): 811–2.
2970:
2966:
2962:
2955:
2953:
2949:
2944:
2940:
2935:
2930:
2926:
2922:
2918:
2914:
2910:
2903:
2900:
2895:
2891:
2886:
2881:
2877:
2873:
2869:
2865:
2864:Mitochondrion
2861:
2854:
2851:
2846:
2842:
2838:
2834:
2830:
2826:
2822:
2818:
2811:
2809:
2807:
2803:
2792:on 2018-08-25
2791:
2787:
2783:
2777:
2774:
2769:
2765:
2760:
2755:
2751:
2747:
2743:
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2728:
2725:
2720:
2716:
2711:
2706:
2701:
2696:
2692:
2688:
2684:
2680:
2676:
2669:
2667:
2665:
2663:
2659:
2654:
2650:
2645:
2640:
2636:
2632:
2628:
2621:
2619:
2617:
2613:
2608:
2604:
2599:
2594:
2589:
2584:
2580:
2576:
2572:
2565:
2563:
2561:
2559:
2555:
2551:
2550:public domain
2540:
2536:
2530:
2528:
2526:
2524:
2522:
2520:
2516:
2511:
2507:
2502:
2497:
2492:
2487:
2483:
2479:
2475:
2468:
2466:
2462:
2457:
2453:
2448:
2443:
2439:
2435:
2431:
2424:
2422:
2420:
2418:
2414:
2409:
2405:
2400:
2395:
2390:
2385:
2381:
2377:
2373:
2366:
2363:
2359:
2358:public domain
2348:
2342:
2340:
2338:
2336:
2334:
2330:
2325:
2321:
2315:
2312:
2307:
2303:
2297:
2294:
2290:
2286:
2281:
2279:
2277:
2273:
2269:
2265:
2260:
2258:
2256:
2252:
2245:
2236:
2232:
2228:
2224:
2219:
2214:
2210:
2206:
2202:
2198:
2194:
2190:
2189:
2184:
2177:
2176:
2171:
2166:
2162:
2157:
2156:
2153:
2148:
2146:
2144:
2140:
2136:
2132:
2124:
2120:
2117:
2115:
2112:
2110:
2107:
2105:
2102:
2100:
2097:
2095:
2092:
2090:
2087:
2086:
2085:
2083:
2075:
2073:
2071:
2066:
2061:
2057:
2053:
2049:
2044:
2040:
2036:
2032:
2028:
2024:
2020:
2013:
2011:
2009:
2005:
2001:
1997:
1993:
1989:
1981:
1979:
1977:
1970:
1966:
1962:
1954:
1952:
1950:
1946:
1937:
1935:
1932:
1928:
1923:
1921:
1917:
1913:
1909:
1905:
1902:
1898:
1894:
1891:
1884:
1882:
1880:
1875:
1871:
1867:
1863:
1857:
1855:
1851:
1846:
1842:
1838:
1834:
1827:
1825:
1822:
1821:bioenergetics
1818:
1814:
1810:
1806:
1802:
1796:
1794:
1790:
1786:
1782:
1778:
1774:
1770:
1766:
1761:
1759:
1755:
1751:
1747:
1743:
1735:
1731:
1727:
1725:
1722:
1720:
1717:
1715:
1712:
1710:
1709:short stature
1707:
1705:
1701:
1699:
1696:
1693:
1689:
1688:
1687:
1685:
1681:
1677:
1673:
1669:
1665:
1661:
1659:
1655:
1654:immune system
1651:
1646:
1644:
1640:
1636:
1632:
1628:
1624:
1620:
1616:
1615:linoleic acid
1612:
1608:
1603:
1599:
1595:
1588:
1586:
1584:
1583:rectal cancer
1580:
1576:
1572:
1568:
1564:
1560:
1559:breast cancer
1556:
1551:
1543:
1541:
1539:
1535:
1531:
1527:
1522:
1518:
1514:
1513:linoleic acid
1510:
1506:
1502:
1498:
1495:is a complex
1494:
1487:
1485:
1478:
1476:
1474:
1469:
1465:
1461:
1460:linoleic acid
1456:
1452:
1451:linoleic acid
1448:
1444:
1440:
1431:
1429:
1427:
1423:
1415:
1413:
1411:
1407:
1403:
1399:
1395:
1391:
1387:
1383:
1379:
1374:
1372:
1368:
1364:
1360:
1356:
1353:
1349:
1345:
1341:
1335:
1332:
1328:
1324:
1320:
1316:
1312:
1308:
1304:
1300:
1296:
1292:
1284:
1282:
1280:
1276:
1275:Hippo pathway
1272:
1268:
1263:
1261:
1260:rectal cancer
1257:
1253:
1249:
1245:
1241:
1237:
1236:breast cancer
1233:
1229:
1225:
1221:
1217:
1213:
1209:
1206:
1202:
1198:
1194:
1190:
1186:
1182:
1179:
1175:
1171:
1167:
1163:
1160:
1156:
1152:
1144:
1141:
1139:
1135:
1132:
1129:
1127:
1123:
1119:
1115:
1110:
1105:
1094:
1089:
1085:
1081:
1078:
1074:
1067:
1065:
1062:
1058:
1054:
1050:
1047:
1043:
1039:
1032:
1030:
1026:
1022:
1018:
1014:
1008:
1004:
1001:
995:
993:
989:
985:
981:
977:
971:
967:
964:
960:
953:
951:
947:
943:
939:
935:
929:
925:
922:
916:
914:
908:
904:
900:
896:
892:
888:
884:
881:
879:RefSeq (mRNA)
877:
870:
869:
864:
860:
857:
851:
850:
845:
841:
838:
836:
832:
825:
824:
819:
815:
812:
806:
805:
800:
796:
793:
791:
787:
780:
779:
774:
770:
767:
761:
760:
755:
751:
748:
746:
742:
739:
736:
734:
731:
727:
724:
720:
716:
709:
705:
700:
694:
691:
689:
686:
684:
681:
679:
676:
674:
671:
669:
666:
664:
661:
659:
656:
654:
651:
649:
646:
644:
641:
639:
636:
634:
631:
629:
626:
624:
621:
619:
616:
614:
611:
610:
608:
605:
604:
598:
595:
593:
590:
588:
585:
583:
582:mitochondrion
580:
578:
575:
573:
570:
568:
565:
563:
560:
558:
555:
554:
552:
549:
548:
542:
539:
537:
534:
532:
529:
527:
524:
523:
521:
518:
517:
514:
513:Gene ontology
510:
506:
494:
489:
486:
484:
480:
472:
467:
456:
452:
449:parotid gland
448:
444:
440:
436:
432:
428:
424:
420:
419:
416:
412:
407:
404:
394:
390:
386:
382:
378:
374:
371:right auricle
370:
366:
362:
359:apex of heart
358:
357:
354:
350:
345:
342:
341:
338:
336:
332:
330:
329:
325:
324:
321:
319:
315:
311:
307:
303:
295:
290:
286:
282:
277:
267:
263:
256:
249:
243:
236:
228:
224:
220:
215:
211:
206:
202:
194:
189:
185:
181:
176:
166:
162:
155:
148:
142:
135:
131:
125:
121:
117:
112:
108:
103:
99:
95:
91:
87:
83:
79:
75:
71:
67:
63:
59:
51:
46:
39:
34:
29:
25:
20:
7209:
7208:
7086:
7080:
6957:
6634:
6592:
6510:
6485:Transferases
6405:
6401:
6362:
6358:
6319:
6315:
6284:
6280:
6251:
6247:
6215:(3): 462–9.
6212:
6208:
6173:
6169:
6130:
6126:
6087:
6083:
6052:
6048:
5999:
5995:
5956:
5952:
5904:
5900:
5866:
5862:
5840:(3): 262–4.
5837:
5833:
5800:
5796:
5760:
5756:
5733:
5729:
5672:
5668:
5658:
5621:
5617:
5607:
5580:
5576:
5530:
5526:
5472:
5468:
5428:
5424:
5418:
5383:
5379:
5369:
5336:
5332:
5326:
5294:(1): 13–22.
5291:
5287:
5242:(6): 471–7.
5239:
5235:
5225:
5192:
5184:
5149:
5145:
5100:(1): 22–30.
5097:
5093:
5083:
5061:(2): 143–7.
5058:
5054:
5008:
5004:
4994:
4956:
4921:
4917:
4883:
4879:
4872:
4847:
4843:
4836:
4804:(3): 170–5.
4801:
4797:
4787:
4762:
4758:
4752:
4717:
4713:
4703:
4668:
4664:
4654:
4621:
4617:
4570:
4566:
4560:
4525:
4521:
4511:
4498:
4493:
4463:(8): 941–4.
4460:
4456:
4450:
4418:(5): 784–7.
4415:
4411:
4401:
4368:
4364:
4357:
4320:
4316:
4267:(3): 330–8.
4264:
4260:
4254:
4221:
4217:
4210:
4183:
4179:
4169:
4136:
4132:
4126:
4083:
4079:
4069:
4044:
4040:
4034:
4023:. Retrieved
4019:
3985:(3): 311–5.
3982:
3978:
3972:
3937:
3933:
3879:
3875:
3865:
3828:
3824:
3814:
3781:
3777:
3731:
3728:FEBS Letters
3727:
3717:
3690:
3686:
3676:
3631:
3627:
3617:
3582:
3578:
3568:
3531:
3527:
3517:
3490:
3486:
3434:
3430:
3420:
3398:(3): 582–8.
3395:
3391:
3385:
3348:
3344:
3334:
3297:
3293:
3283:
3256:
3252:
3242:
3207:
3203:
3155:
3151:
3141:
3106:
3102:
3092:
3065:
3059:
3022:
3018:
2968:
2964:
2916:
2912:
2902:
2867:
2863:
2853:
2823:(4): 385–9.
2820:
2816:
2794:. Retrieved
2790:the original
2785:
2776:
2741:
2737:
2727:
2682:
2678:
2634:
2630:
2578:
2574:
2538:
2481:
2477:
2437:
2433:
2379:
2375:
2365:
2323:
2314:
2305:
2296:
2192:
2186:
2174:
2173:
2152:
2134:
2128:
2079:
2076:Interactions
2069:
2064:
2055:
2051:
2047:
2042:
2038:
2034:
2018:
2017:
1985:
1958:
1941:
1924:
1910:symptoms of
1888:
1873:
1858:
1831:
1824:successful.
1801:Elamipretide
1797:
1789:cardiomegaly
1781:cardiomegaly
1762:
1750:hypoglycemia
1739:
1676:neurological
1662:
1647:
1610:
1601:
1597:
1592:
1554:
1549:
1547:
1530:ATP synthase
1491:
1482:
1442:
1435:
1426:mitochondria
1421:
1419:
1377:
1375:
1370:
1336:
1306:
1299:chromosome X
1290:
1288:
1266:
1264:
1215:
1196:
1181:transacylase
1174:phospholipid
1158:
1150:
1149:
1025:NP_001277667
1021:NP_001229545
1017:NP_001229544
1013:NP_001167018
1010:
980:NP_001290394
973:
946:NM_001290738
942:NM_001242616
938:NM_001242615
934:NM_001173547
931:
910:
891:NM_001303465
866:
847:
821:
802:
776:
757:
737:
732:
453:right kidney
391:tibial nerve
333:
326:
191:154,421,726
178:154,411,524
53:External IDs
7082:cardiolipin
6727:Factor XIII
6090:(1): 40–8.
5386:(1): 6–15.
4982:|work=
4765:: 196–198.
4588:10316/25581
4500:NCT02976038
2008:lymphocytes
2004:eosinophils
1996:neutrophils
1992:neutropenia
1988:hematologic
1870:blood clots
1817:fatty acids
1777:neutropenia
1769:ventricular
1724:neutropenia
1684:hematologic
1635:cardiolipin
1627:cardiolipin
1623:cardiolipin
1619:cardiolipin
1607:cardiolipin
1501:acyl groups
1493:Cardiolipin
1473:cardiolipin
1468:cardiolipin
1462:group from
1447:cardiolipin
1402:hydrophobic
1386:active site
1331:hydrophilic
1327:amino acids
1319:hydrophobic
1311:amino acids
1205:cytoplasmic
1201:hydrophobic
1189:cardiolipin
1112:Identifiers
683:hemopoiesis
429:granulocyte
363:granulocyte
292:73,333,757
279:73,325,518
31:Identifiers
7226:Categories
7100:Catabolism
6869:Metabolism
4025:2019-08-04
2919:: 92–106.
2796:2018-08-24
2291:, May 2017
2270:, May 2017
2246:References
2195:: 144148.
1986:The major
1973:coenzyme Q
1969:riboflavin
1879:arrythmias
1850:phenotypes
1845:sarcomeric
1837:acyl chain
1704:infections
1702:recurrent
1664:Phenotypes
1658:infections
1509:oleic acid
1344:remodeling
1323:N terminus
1315:N terminus
1303:base pairs
1138:Membranome
653:metabolism
337:(ortholog)
74:HomoloGene
6887:Anabolism
6217:CiteSeerX
5689:0022-2836
4984:ignored (
4974:cite book
4323:(1): 23.
3158:: 83–92.
2913:Meta Gene
2870:: 27–32.
2235:Q81446954
2209:0378-1119
2027:cisplatin
2000:monocytes
1931:carnitine
1916:hypotonia
1897:phenotype
1893:pathology
1680:metabolic
1538:apoptosis
1455:catalyzes
1352:histidine
1285:Structure
1131:IPR000872
1029:NP_852657
992:NP_851830
988:NP_851829
984:NP_851828
976:NP_000107
950:NM_181516
913:NM_181314
903:NM_181313
899:NM_181312
895:NM_181311
887:NM_000116
723:Orthologs
557:cytoplasm
82:GeneCards
7247:Proteins
7087:Tafazzin
6579:P300/CBP
6424:12930833
6389:16020776
6359:Genetics
6346:15489336
6303:15304507
6268:15499385
6239:16857210
6200:16381901
6157:18799610
6114:17043667
6071:16873891
6036:19164547
5983:20474083
5931:16169070
5883:15793838
5854:19261493
5825:23956305
5817:21932011
5787:21091282
5707:32234310
5650:23260140
5599:15475448
5555:10664158
5547:26314254
5509:24858921
5469:PLOS ONE
5445:18632498
5410:30451719
5361:33167027
5353:15124852
5318:20882351
5266:25248416
5176:30055293
5124:17353728
5075:24751896
5037:23656970
4966:25299040
4900:21873497
4828:24282766
4779:28108107
4744:24813252
4695:28070695
4646:29937658
4638:23045169
4597:23827885
4552:24117165
4485:23471712
4477:17846786
4442:23678274
4385:26853223
4349:23398819
4281:23432031
4246:22790290
4202:15805542
4161:11545874
4153:10407787
4061:22410210
3999:10484795
3964:27899622
3898:19450542
3857:24285538
3806:25566280
3798:15098233
3758:39841617
3750:12297275
3668:27439859
3609:22941046
3560:28202545
3509:19619503
3461:25432572
3412:23200781
3377:19244244
3326:19965604
3275:24835017
3234:24078306
3182:29129703
3133:23100323
3051:27268057
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