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

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...

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Publicado en:Orphanet J Rare Dis
Autores principales: Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova, Jana, Dvorakova, Lenka, Sikora, Jakub, Jirsa, Milan, Vanier, Marie T., Hrebicek, Martin
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7132889/
https://ncbi.nlm.nih.gov/pubmed/32248828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01360-5
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