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Neurology, ISSN 0028-3878, 10/2015, Volume 85, Issue 16, pp. 1368 - 1375
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 03/2011, Volume 116, Issue 5, pp. 789 - 795
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 03/2010, Volume 107, Issue 12, pp. 5477 - 5482
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 2017, Volume 55, Issue 3, pp. 1249 - 1259
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 2019, Volume 68, pp. 266 - 267
Niemann Pick type C (NP-C) is an autosomal recessive neurovisceral lysosomal storage disorder caused by NPC1 and NPC2 gene mutations. We screened for NP-C 24... 
Progressive Supranuclear Palsy | Niemann Pick-C | Multiple System Atrophy | VARIANTS | ALPHA-SYNUCLEIN | NEUROSCIENCES | CLINICAL NEUROLOGY | Medical research | Neurosciences | Parkinson's disease | Gene mutations | Medicine, Experimental | Nervous system | Degeneration
Journal Article
Cell, ISSN 0092-8674, 10/2019, Volume 179, Issue 2, pp. 485 - 497.e18
Niemann-Pick type C (NPC) proteins are essential for sterol homeostasis, believed to drive sterol integration into the lysosomal membrane before redistribution... 
NCR1 | X-ray crystallography | lipid trafficking | NPC1 | Niemann-Pick type C proteins | NPC2 | sterol membrane integration | sterol homeostasis | cryo-EM | GENE | SENSING DOMAIN | CHOLESTEROL TRANSFER | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CRYSTAL-STRUCTURES | REQUIRES | BINDING PROTEIN | SACCHAROMYCES-CEREVISIAE | REVEALS | CELL BIOLOGY | Proteins | Amino acids | Sterols | Molecular biology | Analysis
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2013, Volume 108, Issue 1, pp. 76 - 81
Journal Article