Article
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Orphanet journal of rare diseases - 5 Apr 2020
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
Abstract excerpt
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 neurologic onset forms....
Topics
- Adolescent
- Carrier Proteins
- Fibroblasts
- Humans
- Intracellular Signaling Peptides and Proteins
- Membrane Glycoproteins
- Mutation
- Niemann-Pick C1 Protein