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Thesis

Pharmacological inhibition of the methyltransferases SUV4-20 in cellular models of Friedreich’s ataxia

Abstract:

FRDA is the most common hereditary ataxia in the western world. The disorder is characterised by a pathological GAA trinucleotide repeat expansion in the FXN gene, resulting in a decrease in the expression of its encoded protein, frataxin. Symptoms commonly arise during adolescence, with patients exhibiting a clinical syndrome of progressive neurodegeneration, cardiomyopathy and endocrine dysfunction. FRDA remains without a cure, likely due to our incomplete understanding of disease pathology...

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Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Sub department:
Physiology Anatomy & Genetics
Research group:
Wade-Martins Group
Oxford college:
Christ Church
Role:
Author
ORCID:
0000-0002-4691-2916

Contributors

Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Sub department:
Physiology Anatomy & Genetics
Research group:
Wade-Martins Group
Role:
Supervisor
Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Sub department:
Physiology Anatomy & Genetics
Research group:
Wade-Martins Group /
Oxford college:
Christ Church
Role:
Supervisor
Role:
Examiner
Role:
Examiner
Type of award:
MSc by Research
Level of award:
Masters
Awarding institution:
University of Oxford
DOI:

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