Ontology highlight
ABSTRACT:
SUBMITTER: Schultz ML
PROVIDER: S-EPMC6131187 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Schultz Mark L ML Krus Kelsey L KL Kaushik Susmita S Dang Derek D Chopra Ravi R Qi Ling L Shakkottai Vikram G VG Cuervo Ana Maria AM Lieberman Andrew P AP
Nature communications 20180910 1
Niemann-Pick type C disease is a fatal, progressive neurodegenerative disorder caused by loss-of-function mutations in NPC1, a multipass transmembrane glycoprotein essential for intracellular lipid trafficking. We sought to define the cellular machinery controlling degradation of the most common disease-causing mutant, I1061T NPC1. We show that this mutant is degraded, in part, by the proteasome following MARCH6-dependent ERAD. Unexpectedly, we demonstrate that I1061T NPC1 is also degraded by a ...[more]