Identification and characterization of protein interactions with the major Niemann–Pick type C disease protein in yeast reveals pathways of therapeutic potential

Niemann–Pick type C (NP-C) disease is a rare lysosomal storage disease caused by mutations in NPC1 (95% cases) or NPC2 (5% cases). These proteins function together in cholesterol egress from the lysosome, whereby upon mutation, cholesterol and other lipids accumulate causing major pathologies. Howev...

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Detalles Bibliográficos
Autores principales: Hammond, Natalie, Snider, Jamie, Stagljar, Igor, Mitchell, Kevin, Lagutin, Kirill, Jessulat, Matthew, Babu, Mohan, Teesdale-Spittle, Paul H, Sheridan, Jeffrey P, Sturley, Stephen L, Munkacsi, Andrew B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Genetic Models of Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471228/
https://www.ncbi.nlm.nih.gov/pubmed/37440478
http://dx.doi.org/10.1093/genetics/iyad129

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