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Thesis

Modelling of amyotrophic lateral sclerosis (ALS) using induced pluripotent stem cells (iPSC)

Abstract:

The hexanucleotide repeat expansion (HRE) mutation within C9orf72 gene is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Several hypotheses have been proposed for how the mutation contributes to pathogenicity, including the loss of C9orf72 gene function, RNA-mediate toxicity and the formation of toxic dipeptides by repeat-associated non-ATG (RAN) translation. Patient-specific iPSCs provide a promising tool for the stu...

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Department:
University of Jordan
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Author

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Department:
Nuffield department of clinical neurosciences
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Supervisor
Department:
Sir Wlliam Dunn School of Pathology
Role:
Supervisor
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
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