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Thesis

Determining the mechanism of pathogenesis of mucolipidosis type IV and related lysosomal storage disorders for development of novel therapies

Abstract:

Mucolipidosis type IV (MLIV) is a rare, autosomal recessive, neurodegenerative, lysosomal storage disorder. MLIV is caused by mutations in a gene (MCOLN1) encoding a TRP channel family member known as Mucolipin 1 or TRPML1. TRPML1 is a lysosomal transmembrane protein that appears to be required for normal lysosomal pH regulation, recycling of molecules and membrane reorganisation including lysosomal biogenesis, fusion and exocytosis. The exact function of the channel is unknown bu...

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Institution:
University of Oxford
Division:
MSD
Department:
Pharmacology
Oxford college:
Exeter College
Role:
Author

Contributors

Division:
MSD
Department:
Pharmacology
Role:
Supervisor
Division:
MSD
Department:
Pharmacology
Role:
Supervisor
Publication date:
2014
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
Oxford University, UK
Language:
English
Keywords:
Subjects:
UUID:
uuid:321b1da6-0033-4230-b047-b643e5ea3e60
Local pid:
ora:9020
Deposit date:
2014-10-06

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