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Evaluation of new therapies in Niemann-Pick type C disease

Abstract:

Niemann Pick type C (NPC) disease is a rare autosomal recessive neurodegenerative lysosomal storage disease caused by a mutation in the NPC1 or NPC2 genes. The functions of the proteins these genes encode are not fully understood, but are thought to be involved in free cholesterol egress from the acidic compartment. The pathogenic cascade in proposed to begin with sphingosine accumulation followed by reduction of acidic store calcium levels. This results in impairing intr...

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

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Role:
Supervisor
Publication date:
2014
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Keywords:
Subjects:
UUID:
uuid:1538a0d6-b08e-444c-900d-de3ea3834ca5
Local pid:
ora:11988
Deposit date:
2015-07-29

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