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

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

Abstract 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 fi...

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Bibliographic Details
Main Authors: Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Niemann-pick type C
Lysosomal storage disease
Proteostasis
Mutant protein
Cholesterol transport
Online Access:http://link.springer.com/article/10.1186/s13023-020-01360-5

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http://link.springer.com/article/10.1186/s13023-020-01360-5

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