## Abstract Niemann‐Pick 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
Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse
✍ Scribed by Xin Yan; Jan Lukas; Martin Witt; Andreas Wree; Rayk Hübner; Moritz Frech; Rüdiger Köhling; Arndt Rolfs; Jiankai Luo
- Book ID
- 106461135
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 743 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0885-7490
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## Abstract Niemann‐Pick disease type C (NPC) is a deadly neurodegenerative disease often caused by mutation in a gene called NPC1, which results in the accumulation of unesterified cholesterol and glycosphingolipids in the endosomal–lysosomal system. Most studies on the mechanisms of neurodegenera
## Abstract Niemann‐Pick C (NPC) disease is an autosomal recessive, lethal, neurodegenerative disorder caused by mutations in __NPC1__. By using the glial fibrillary acidic protein (GFAP) promoter, we demonstrated previously that astrocyte‐specific expression of __Npc1__ decreased neuronal storage