Article
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.
Human molecular genetics - 12 Apr 2000
Liu Y, Wu Y P, Wada R, Neufeld E B, Mullin K A, Howard A C, Pentchev P G, Vanier M T, Suzuki K, Proia R L
Abstract excerpt
Niemann-Pick disease Type C (NP-C) is a progressive neurodegenerative disorder caused by mutations in the NPC1 gene and characterized by intracellular accumulation of cholesterol and sphingo-lipids. The major neuronal storage material in NP-C consists of gangliosides and other glycolipids, raising the possibility that the accumulation of these lipids may participate in the neurodegenerative process. To determine...
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