Article
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
Orphanet journal of rare diseases - 18 Sept 2013
Trilck Michaela, Hübner Rayk, Seibler Philip, Klein Christine, Rolfs Arndt, Frech Moritz J
Abstract excerpt
BACKGROUND: Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of several lipids like cholesterol is severely impaired, resulting in an accumulation of lipids in late endosomes and lysosomes. The neurological manifestation of the disease is caused by dysfunction...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.