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Thesis

Niemann-Pick type c disease: pathogenesis and therapy

Abstract:

Niemann-Pick disease Type C is a rare, lysosomal storage disorder caused by defects in either NPC1 (95% of cases) or NPC2, and characterized by progressive neurodegeneration that ultimately results in premature death. The function of the NPC1 protein still remains poorly understood and how the NPC1 or NPC2 proteins interact, or the functions of the pathways they regulate still remains unknown. We have found unexpected links between NPC and other human diseases - particula...

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Division:
MSD
Department:
Pharmacology
Department:
Pharmacology
Role:
Author

Contributors

Role:
Supervisor
Marie Curie ITN SPHINGONET More from this funder
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
UUID:
uuid:d75bf036-acc9-4c6f-89ad-7708d2996937
Deposit date:
2017-01-18

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