## Abstract The BALB/c mouse model of NiemannβPick type C (NPC) disease exhibits neuropathological similarities to the human condition. There is an ageβrelated cerebral atrophy, demyelination of the corpus callosum, and degeneration of cerebellar Purkinje cells in the NPC mouse. In human NPC, many
A lysosomal storage disorder in mice: A model of Niemann-Pick disease
β Scribed by T. Sakiyama; M. Tsuda; T. Kitagawa; R. Fujita; S. Miyawaki
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 194 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0141-8955
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## Abstract NiemannβPick disease type C (NPC) is a progressive neurodegenerative disorder characterized by accumulation of free cholesterol in lysosomes, mainly due to a mutation in the NPC1 gene. The pathophysiological basis of the neural disorders in NPC, however, is not well understood. We found
Niemann-Pick type C (NPC) disease develops as a result of mutations in the NPC1 gene that encodes a protein involved in the net movement of unesterified cholesterol from the late endosomal/lysosomal compartment to the metabolically active pool of sterol in the cytosol of virtually every cell in the