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Dissecting the contribution of dipeptide repeats to the toxicity in C9orf72 iPSC-derived neurons from ALS/FTD patients

Abstract:

A large (GGGGCC) repeat expansion in C9ORF72 gene is the commonest genetic cause of amyotrophic lateral sclerosis (ALS). It causes both loss- and gain-of-function, but the relative contribution of the different mechanisms to the development of ALS remains uncertain. One of the pathomechanisms is the production of dipeptide repeat proteins (PR, PA, GR, GP and GA) via repeat-associated non-ATG translation (DPRs). Animal and cellular models have suggested that the arginine-rich DPRs are toxic...

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Subgroup:
Clinical Neurosciences
Research group:
MND
Oxford college:
St Hilda's College
Role:
Author
ORCID:
https://orcid.org/0000-0002-4361-8973

Contributors

Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Subgroup:
Clinical Neurosciences
Role:
Supervisor
ORCID:
0000-0001-5490-1697
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Subgroup:
Clinical Neurosciences
Research group:
Talbot
Oxford college:
Wolfson College
Role:
Supervisor
ORCID:
0000-0003-0776-6431
Institution:
University of Oxford
Division:
MSD
Department:
Pathology Dunn School
Subgroup:
Pathology Dunn School
Role:
Examiner
ORCID:
0000-0003-0297-6675
Role:
Examiner
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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