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Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and ...Niemann-Pick C disease is a rare neurodegenerative, lysosomal storage disease caused by accumulation of unesterified cholesterol. Histone deacetylase inhibitors correct the cholesterol ... - bioRxivHowever, in contrast to NPC1 deficiency, NPC2 absence did not lead to a noticeable late endosomal block of lipid trafficking to the lysosome. Integrated analysis of transcriptome and proteome reveals the key ...... NPC2 (4% des cas). Son incidence est évaluée à 1/89 000 ... T. D.. (2018). A Genetic Study of Psychosis in Huntington's Disease ...
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