Structure of human Niemann-Pick C1 protein. [PDF]
Proc Natl Acad Sci U S A, 2016 Significance Niemann–Pick C1 protein (NPC1) is a late-endosomal membrane protein required for transport of LDL-derived cholesterol into cells and Ebola virus entry; mutations cause Niemann–Pick type C disease. NPC1 contains a “sterol-sensing domain” (SSD) that also appears in several key regulatory proteins of cholesterol biosynthesis,
Li X +5 more
europepmc +5 more sources
Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments [PDF]
Journal of Lipid Research, 2000 Niemann-Pick type C (NPC) disease is characterized by an accumulation of cholesterol and other lipids in the lysosomal compartment. In this report, we use subcellular fractionation and microscopy to determine the localization of the murine Niemann-Pick ...
William S. Garver +4 more
doaj +5 more sources
3.3 Å structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport. [PDF]
Proc Natl Acad Sci U S A, 2017 Li X +6 more
europepmc +4 more sources
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
Biomarker Research, 2023 Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment.
Kiersten Campbell +13 more
doaj +3 more sources
The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action. [PDF]
PLoS ONE, 2014 The Niemann-Pick disease, type C1 (NPC1) gene encodes a transmembrane protein involved in cholesterol efflux from the lysosome. SNPs within NPC1 have been associated with obesity and type 2 diabetes, and mice heterozygous or null for NPC1 are insulin ...
Rachael Fletcher +7 more
doaj +4 more sources
Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C. [PDF]
J Extracell BiolABSTRACT Niemann‐Pick disease type C (NPC) is a rare neurodegenerative disease primarily caused by mutations in the NPC1 gene, which is associated with cholesterol trafficking impairment, and disruption of endolysosomal processing and extracellular vesicles (EVs).
Hawthorne SCB +4 more
europepmc +2 more sources
Alterations in gene expression in mutant amyloid precursor protein transgenic mice lacking Niemann-Pick type C1 protein. [PDF]
PLoS ONE, 2013 Niemann-Pick type C (NPC) disease, a rare autosomal recessive disorder caused mostly by mutation in NPC1 gene, is pathologically characterized by the accumulation of free cholesterol in brain and other tissues.
Mahua Maulik +2 more
doaj +5 more sources
Structural and biochemical analysis of ligand binding in yeast Niemann–Pick type C1–related protein
Life Science AllianceResults of X-ray crystallography and binding assays with different lipids expand our knowledge of the substrate scope of the Niemann–Pick type C1–related proteins NCR1 and NPC2 in yeast.
Lynette Nel +9 more
doaj +6 more sources
Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1
Cell, 2016 Summary Filoviruses, including Ebola and Marburg, cause fatal hemorrhagic fever in humans and primates. Understanding how these viruses enter host cells could help to develop effective therapeutics.
Han Wang +6 more
semanticscholar +3 more sources
Ebola virus entry requires the cholesterol transporter Niemann-Pick C1
Nature, 2011 Infections by the Ebola and Marburg filoviruses cause a rapidly fatal haemorrhagic fever in humans for which no approved antivirals are available. Filovirus entry is mediated by the viral spike glycoprotein (GP), which attaches viral particles to the ...
J. Carette +14 more
semanticscholar +3 more sources