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Articles tagged with Niemann-Pick type C disease
Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are…
Niemann–Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive…
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation – Analysis of pluripotency and neuronal differentiation
Data presented in this article demonstrate the generation and characterization of two novel Niemann-Pick disease Type C1 (NPC1) patient-specific induced pluripotent stem cell (iPSC) lines. For reprogramming fibroblasts, carrying the novel homozygous mutation c.1180T>C and the prevalent homozygous…
Our data demonstrate a pronounced neurodegeneration and glia activation in the olfactory system of NPC1-/-, which is accompanied by sensory deficits.
We estimate, that every 300th newborn in some countries may be eligible for inclusion due to high-grade suspicion of NPC. The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.