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Niemann-Pick disease, type C1

NPC1, Niemann-Pick disease type C, Niemann-Pick type C
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] (from NCBI)
Top mentioned proteins: NPC2, CAN, AGE, ACID, HAD
Papers using NPC1 antibodies
Spatial separation of HLA-DM/HLA-DR interactions within MIIC and phagosome-induced immune escape
Neefjes Jacques et al., In The Journal of Cell Biology, 2004
... Other antibodies used were rabbit polyclonal anti-NPC1 (Novus Biologicals), rabbit anti-ORP1L (gift from ...
Papers on NPC1
Lacritin and other autophagy associated proteins in ocular surface health.
Laurie et al., Hyderābād, India. In Exp Eye Res, Mar 2016
Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.
Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease.
Pol et al., Barcelona, Spain. In Am J Pathol, Feb 2016
UNASSIGNED: Niemann-Pick C disease is a neurovisceral disorder caused by mutations in the NPC gene that result in systemic accumulation of intracellular cholesterol.
Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1.
Gao et al., Beijing, China. In Cell, Feb 2016
An endosomal protein, Niemann-Pick C1 (NPC1), has been identified as a necessary entry receptor for this process, and priming of the viral glycoprotein (GP) to a fusion-competent state is a prerequisite for NPC1 binding.
Brain REST/NRSF Is Not Only a Silent Repressor but Also an Active Protector.
Zhang et al., Chongqing, China. In Mol Neurobiol, Feb 2016
Encouragingly, several compounds such as valproic acid and X5050 that target REST/NRSF have been shown to be clinically effective at rescuing seizures or Niemann-Pick type C disease.
Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C.
Demir et al., Ankara, Turkey. In Int J Pediatr Otorhinolaryngol, Jan 2016
METHODS: Audiovestibular and swallowing evaluation were performed on patients with Niemann-Pick disease type C (NPC) at Hacettepe University between 20013 and 2015 prospectively.
The Role of Geranylgeranyltransferase I-Mediated Protein Prenylation in the Brain.
Zhou et al., Xuzhou, China. In Mol Neurobiol, Jan 2016
More importantly, we discussed the involvement of GGTI and its substrate GGPP in neurodegenerative disorders, such as aging, Alzheimer's disease, multiple sclerosis, and Niemann-Pick disease type C. The role of FT-FPP and GGTII is mentioned as well to compare with GGTI in these physiological and pathological processes.
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
van Eijk et al., Amsterdam, Netherlands. In Plos One, Dec 2015
Impaired function of NPC1 or NPC2 lysosomal proteins leads to the intracellular accumulation of unesterified cholesterol, the primary defect underlying Niemann-Pick type C (NPC) disease.
Update on the Pharmacotherapy of Cerebellar Ataxia and Nystagmus.
Strupp et al., München, Germany. In Cerebellum, Nov 2015
(d) chlorzoxazone in DBN which, however, was so far demonstrated in only one observational study; (e) the modified amino acid acetyl-DL-leucine: evidently effective in cerebellar ataxias, shown in three observational studies, one on patients with Niemann-Pick type C; its mode of action has to be evaluated in animal models and on a cellular/electrophysiological level.
[Treatable neurometabolic diseases. Association with schizophrenia spectrum disorders].
Kuster et al., Nantes, France. In Presse Med, Sep 2015
Hereby we are going to expose a literature review and comprehensive tables in order to present in a glance the essential clinical features of disorders of homocysteine metabolism, urea cycle disorders, Niemann-Pick disease type C, acute porphyria, cerebrotendinous-xanthomatosis.
Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments.
Elgersma et al., Rotterdam, Netherlands. In Jama Neurol, Sep 2015
Seventy-five trials (44.4%) reported potential efficacy, of which only 2 therapies are now established treatments, namely, dietary restriction for phenylketonuria and miglustat for Niemann-Pick disease type C. The median sample size for RCTs was 25 (range, 2-537).
Structural basis for Marburg virus neutralization by a cross-reactive human antibody.
Saphire et al., Los Angeles, United States. In Cell, Mar 2015
The antibody, MR78, recognizes a GP1 epitope conserved across the filovirus family, which likely represents the binding site of their NPC1 receptor.
Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.
Ohno et al., Nagaoka, Japan. In Case Rep Pediatr, 2014
Niemann-Pick disease type C (NPC) is a rare progressive neurodegenerative disorder, often with onset after normal early childhood development.
Efficiency of siRNA delivery by lipid nanoparticles is limited by endocytic recycling.
Anderson et al., Cambridge, United States. In Nat Biotechnol, 2013
Niemann-Pick type C1 (NPC1) is shown to be an important regulator of the major recycling pathways of LNP-delivered siRNAs.
Increased copper levels in in vitro and in vivo models of Niemann-Pick C disease.
Zanlungo et al., Santiago, Chile. In Biometals, 2012
Data found an increase in ceruloplasmin levels in the plasma of Npc1 -/- mice compared to Npc1 +/+ mice, and this increase was statistically significant (*p < 0.05).
Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1.
Goldstein et al., San Diego, United States. In Hum Mol Genet, 2012
Data show that that NPC1 (Niemann-Pick disease, type C1 protein) neurons have strong spontaneous activation of autophagy.
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Wu et al., Beijing, China. In Gene, 2012
NPC1 homozygous mutation of S865L correlated with a relatively severe juvenile neurological form of Niemann-Pick disease type C disease in chinese patients
A new player in the puzzle of filovirus entry.
Schornberg et al., Charlottesville, United States. In Nat Rev Microbiol, 2012
Furthermore, recent studies have identified Niemann-Pick C1 (NPC1), a protein that resides deep in the endocytic pathway, as an important host factor in this process.
Ebola virus entry requires the host-programmed recognition of an intracellular receptor.
Chandran et al., United States. In Embo J, 2012
Purified human NPC1 binds only to a cleaved form of Ebola virus spike glycoprotein that is generated within cells during entry, and only viruses containing cleaved glycoprotein can utilize a receptor retargeted to the cell surface.
Increased excitability and compromised long-term potentiation in the neocortex of NPC1(-/-) mice.
Köhling et al., Rostock, Germany. In Brain Res, 2012
The results of this study suggest that at least in the somatosensory neocortex NPC1 protein is instrumental in synaptic function.
Ebola virus entry requires the cholesterol transporter Niemann-Pick C1.
Brummelkamp et al., Cambridge, United States. In Nature, 2011
membrane fusion mediated by filovirus glycoproteins and viral escape from the vesicular compartment require the NPC1 protein, independent of its known function in cholesterol transport
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