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Strategies for increasing frataxin expression in Friedreich's ataxia: modulation of the epigenome and proteome

Abstract:

Friedreich's ataxia is a rare and fatal childhood neurodegenerative disease that causes shrinkage of the spinocerebellar tracts and the progressive loss of neurons in the dorsal root ganglia. This leads to awkward, unsteady movements and impaired sensory function, leaving sufferers wheelchair bound. It is caused by the expansion of a trinucleotide repeat region within the first intron of the FXN gene, leading to reduced production of the essential mitochondrial protein frataxin. The averag...

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Institution:
University of Oxford
Division:
MPLS
Department:
Chemistry
Sub department:
Organic Chemistry
Research group:
Brennan Group
Oxford college:
Jesus College
Role:
Author

Contributors

Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Target Discovery Institute
Research group:
Brennan Group
Role:
Supervisor
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Programme:
Synthesis for Biology and Medicine Centre for Doctoral Training
Grant:
EP/L015838/1
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Keywords:
Subjects:
Deposit date:
2022-02-16

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