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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2020-04-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Niemann-pick type C Lysosomal storage disease Proteostasis Mutant protein Cholesterol transport
Acesso em linha:	http://link.springer.com/article/10.1186/s13023-020-01360-5
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