Articles with "i1061t npc1" as a keyword



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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD

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Published in 2018 at "Nature Communications"

DOI: 10.1038/s41467-018-06115-2

Abstract: 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… read more here.

Keywords: dependent erad; selective autophagy; march6 dependent; i1061t npc1 ... See more keywords