Article

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

2020-02-27

Abstract excerpt

<title>Abstract</title> <p>Background: Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To evaluate impacts of NPC1 mutations, we examined fibroblast cultures from 26 NP-C1 patients with clinical phenotypes ranging from infantile to adult...

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Literature Corpus work: 14554a85-d12a-51ef-b1a7-fcc80afb626b
DOI: 10.21203/rs.2.18083/v2

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