Article
Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.
Nature communications - 10 Sept 2018
Schultz Mark L, Krus Kelsey L, Kaushik Susmita, Dang Derek, Chopra Ravi, Qi Ling, Shakkottai Vikram G, Cuervo Ana Maria, Lieberman Andrew P
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.