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329:) due to the phenotypes of body twisting and hindlimb clenching when suspended by the tail. Heterozygotes show locomotion defects with neuronal loss. Homozygotes are unable to feed and move and die within 24 hours of birth, but embryonic neurons have intracellular inclusions that are positive for ubiquitin, SOD, CDK5, and neurofilament.
345:. The mouse models that Fisher and Tybulewicz created have allowed scientists to study the genes responsible for complex conditions, which allows her to design synthetic chromosomes for gene therapy. Fisher has investigated a series of proteins that are modified by Alzheimer's disease and impacted by trisomy.
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Fisher and
Tybulewicz have demonstrated that mouse models can be used to understand the genes that give rise to certain aspects of Down syndrome. Fisher and Tybulewicz were the first to successfully introduce an almost full-length human chromosome into mice – a significant technical achievement, as
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and in 2017 she also set up a lab at the
Medical Research Council Mouse Genetics Unit in Harwell. Her research considers motor neuron degeneration, genome editing and the development of mouse models to understand neurological disorders.
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260:. Her early work looked at the male sex determining factor and then considered the genes responsible for Turner syndrome. Fisher returned to Imperial College London in 1990, when she was awarded a
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is the most common genetic killer of children. Whilst it is well known that certain genes cause motor neuron disease, it is not clear how mutations impact the disease progression. Working with
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In 2003, work from Fisher's lab provided one of the first demonstrations in a mammalian model of the link between defects in retrograde transport and neurodegeneration. In a paper published in
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in 1981. After completing her undergraduate studies Fisher left science and trained as a typist and worked in several different jobs in UK and
Australia and in 1983 moved to
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Blue Flame Award in 2017 for depositing a plasmid that has been shared more than 100 times. Fisher serves as an academic editor on the journal
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it had previously only been possible to introduce small fragments of chromosomes. People with Down syndrome, a condition which occurs due to
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heavy chain gene. In cells, dynein is the motor protein that moves cargos toward the minus end of microtubules. These mutants were named
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Fisher, Elizabeth M. C. (1987). "The sex-determining region of the human Y chromosome encodes a finger protein".
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Harwell; Fisher has looked at the molecular changes that occur during ALS. She has investigated how the
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Fisher received the 2011 Faculty Member of the Year Award for
Neurological Disorders on
959:"Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia"
703:"Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport"
663:"Meeting the challenges of modelling neurodegenerative disease in mice | Royal Society"
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research funding in 1991, which allowed her to expand her research into a new model of
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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
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531:"BBC Radio 4 - The Life Scientific, Elizabeth Fisher on chromosomes in mice and men"
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member in 2010. In 2013 she was elected to
Academia Net. In 2019 Fisher appeared on
309:(N-ethyl-N-nitrosourea) screen harbored missense point mutations in the cytoplasmic
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and on the boards for the journals
Disease Models and Mechanism, Mammalian Genome.
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in
Harwell. She dissected individual chromosomes and cloned DNA fragments into
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mutant FUS behaves in mouse models. Fisher serves as a
Council Member at the
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The sex-determining region of the human Y chromosome encodes a finger protein
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After graduating from
Imperial College London in 1986, Fisher moved to the
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Fisher, Elizabeth M. C. (2000). "Genealogies of mouse inbred strains".
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268:. In collaboration with Victor Tybulewicz of the MRC, she was awarded
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172:. Her research investigates the degeneration of motor neurons during
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305:, Fisher found that two spontaneous mouse mutants generated from an
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Professor
Elizabeth Fisher - Mouse Models of Downs syndrome 2006
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Microcloning and molecular mapping of the mouse X chromosome
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Microcloning and molecular mapping of the mouse X chromosome
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Fellows of the Academy of Medical Sciences (United Kingdom)
252:(MIT). At MIT, Fisher worked as a postdoc in the lab of
1005:"Elizabeth Fisher | F1000 Faculty Member | F1000Prime"
220:. During her doctoral research she worked alongside
847:"Council members | The Academy of Medical Sciences"
248:, where she was appointed a postdoctoral fellow at
208:, where she worked on mouse molecular genetics. At
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264:to start an independent research group looking at
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616:Queen Square Centre for Neuromuscular Diseases
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749:"Mouse Models of Neurodegeneration Research"
276:. In 2001 Fisher was appointed Professor at
262:Royal Society University Research Fellowship
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200:where she was an undergraduate student at
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1096:Royal Society University Research Fellows
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408:Fellow of the Academy of Medical Sciences
168:is a British geneticist and Professor at
701:Hafezparast, Majid; et al. (2003).
1076:Fellows of the Royal Society of Biology
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360:that occurs during middle age, whereas
1030:"Prof. Elizabeth Fisher - AcademiaNet"
555:Fisher, Elizabeth Mary Claire (1987).
412:Fellow of the Royal Society of Biology
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250:Massachusetts Institute of Technology
79:Massachusetts Institute of Technology
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565:(PhD thesis). University of London.
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777:"Down's syndrome recreated in mice"
391:Genealogies of mouse inbred strains
1086:Alumni of the University of Oxford
341:, are particularly susceptible to
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1091:Alumni of Imperial College London
822:"Neuroscience - Elizabeth Fisher"
638:"Neuroscience - Elizabeth Fisher"
451:. The Academy of Medical Sciences
957:Fisher, Elizabeth M. C. (2005).
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414:(FRSB) in 2010. She was made a
348:Fisher develops new models for
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1081:British women neuroscientists
350:Amyotrophic lateral sclerosis
174:amyotrophic lateral sclerosis
885:10.1016/0092-8674(87)90595-2
503:"IRIS Prof Elizabeth Fisher"
445:"Professor Elizabeth Fisher"
157:Elizabeth Mary Claire Fisher
46:Elizabeth Mary Claire Fisher
826:UCL Division of Biosciences
642:UCL Division of Biosciences
612:"prof-elizabeth-fisher-bio"
374:Academy of Medical Sciences
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210:St Mary's Hospital, London
610:UCL (26 September 2019).
278:University College London
202:St Anne's College, Oxford
170:University College London
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87:University College London
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410:(FMedSci) in 2007 and a
366:Medical Research Council
230:Medical Research Council
1071:British neuroscientists
820:UCL (8 February 2019).
719:10.1126/science.1083129
636:UCL (8 February 2019).
362:spinal muscular atrophy
206:Imperial College London
83:Imperial College London
61:Imperial College London
194:physiological sciences
474:Europe PubMed Central
380:Selected publications
1034:www.academia-net.org
358:motor neuron disease
198:University of Oxford
148:/profile?upi=EMCFI97
56:University of Oxford
779:. 22 September 2005
688:"Iris View Profile"
421:The Life Scientific
370:RNA-binding protein
356:. ALS is a form of
343:Alzheimer's disease
240:Career and research
178:Alzheimer's disease
587:uk.bl.ethos.769180
472:publications from
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402:Awards and honours
319:Legs at odd angles
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1055:Categories
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428:References
327:Cramping 1
266:aneuploidy
1009:f1000.com
188:Education
983:16041373
936:10615122
735:40391817
727:12730604
234:plasmids
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893:3690661
707:Science
335:trisomy
303:Science
290:Addgene
228:at the
196:at the
161:FMedSci
146:/browse
131:Website
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