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Thesis

Absence of the dystrophin protein in Duchenne muscular dystrophy: effects on transcriptome, proteome and microRNA secretome

Abstract:

Duchenne muscular dystrophy (DMD) is a classical monogenic disorder characterised by severe muscle weakness. Progressive muscle loss ultimately culminates in fatality due to failure of the heart and diaphragm muscles, typically in the 2nd-4th decade of life. The genetic cause of DMD is disruption of the DMD gene encoding for the dystrophin protein. Dystrophin is important for cytoskeletal structure and normal muscle function, and it plays a vital role in maintaining membrane stability and ...

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Department:
Physiology Anatomy and Genetics

Contributors

Department:
Paediatrics
Role:
Supervisor
Department:
Physiology, Anatomy and Genetics
Role:
Supervisor
Department:
Paediatrics
Role:
Supervisor
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Grant:
RA4/3015
Funding agency for:
Tirsa van Westering
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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