Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1
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DOI: 10.1093/hmg/ddw367
Abstract: Niemann-Pick disease, type C1 (NPC1) is a heritable lysosomal storage disease characterized by a progressive neurological degeneration that causes disability and premature death. A murine model of NPC1 disease (Npc1-/-) displays a rapidly progressing form… read more here.
Keywords: gene therapy; disease; mice; npc1 ... See more keywords
Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1
Sign Up to like & getrecommendations! Published in 2018 at "eLife"
DOI: 10.7554/elife.38564
Abstract: Niemann-Pick C1 (NPC1) is a polytopic membrane protein with 13 transmembrane helices that exports LDL-derived cholesterol from lysosomes by carrying it through the 80 Å glycocalyx and the 40 Å lipid bilayer. Transport begins when… read more here.
Keywords: lysosomal cholesterol; cholesterol; cholesterol export; npc1 ... See more keywords