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NPC1 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. Additionally we are shipping NPC1 Antibodies (73) and NPC1 Proteins (10) and many more products for this protein.
Showing 5 out of 5 products:
this is the first report, showing a role of NPC1 in platelet function and formation but further studies are needed to define how cholesterol storage interferes with these processes
npc1 is required early for proper cell movement and cholesterol localization and later for cell survival
Availability of assays to measure NPC1 binding to membrne proteins may further the understanding of ways in which oxysterols regulate intracellular lipid transport.
the spleen is significantly enlarged in Npc1(-/-) mice.
Study is the first data to reveal motor and behavioral deficits in early maturity of Npc1+/- mice.
Npc1 gene interacts with a high fat diet to promote weight gain through differential regulation of central energy metabolism pathways.
AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, and increased the lifespan of NPC1(-/-) mice. Our work suggests that AAV-based gene therapy is a promising means to treat NPC disease.
Here, we identify lamellar inclusions as the subcellular site of lipid accumulation in neurons, we uncover a vicious cycle of cholesterol synthesis and accretion, which may cause gradual neurodegeneration, and we reveal how beta-cyclodextrin, a potential therapeutic drug, reverts these changes. Our study provides new mechanistic insight in NPC disease and uncovers new targets for therapeutic approaches.
Male NPC1+/- mice had increased fat storage while eating a high-fat diet.
Our data show that: i) HDAC2 (show HDAC2 ELISA Kits) levels and activity are increased in NPC neuronal models and in Npc1(-/-) mice; ii) inhibition of c-Abl (show ABL1 ELISA Kits) or c-Abl (show ABL1 ELISA Kits) deficiency prevents the increase of HDAC2 (show HDAC2 ELISA Kits) protein levels and activity in NPC neuronal models
This study showed that deleting the Npc1 gene is accompanied by an increase in germ cell apoptosis and compensatory imbalances in the expression of cholesterol enzymatic and transporter factors.
These results show that NPC1 is critical for ebolavirus replication and pathogenesis in animals.
abnormal neuronal expression of matrix metalloproteinase-12 (show MMP12 ELISA Kits) may contribute to axonal degeneration in Niemann-Pick type C disease
We identified major events in NPC1 evolution and revealed and compared orthologs and paralogs of the human NPC1 gene through phylogenetic and protein sequence analyses. We predicted whether an amino acid substitution affects protein function by reducing the organism's fitness.
The mutant NPC1 did not significantly reduce cholesterol accumulation, but approximately 85% of the mutants showed reduced cholesterol accumulation when treated with vorinostat or panobinostat.
knockdown of TMEM97 (show TMEM97 ELISA Kits) also increases levels of residual NPC1 in NPC1-mutant patient fibroblasts and reduces cholesterol storage in an NPC1-dependent manner. Our findings propose TMEM97 (show TMEM97 ELISA Kits) inhibition as a novel strategy to increase residual NPC1 levels in cells and a potential therapeutic target for Niemann-Pick type C disease (NP-C).
Rare loss-of-function NPC1 mutations were identified as being associated with human adiposity with a high penetrance in a Chinese population.
Furthermore saturation and intracellular distribution of alpha-Toc (show RHBDF2 ELISA Kits) seem to be strongly dependent on the availability of this vitamin as well as on the presence of the lysosomal protein NPC1
Two mutations were identified in the NPC1 gene, one of which was novel and its pathogenetic nature was unknown
Our data suggest an incidence rate for NPC1 and NPC2 (show NPC2 ELISA Kits) of 1/92,104 and 1/2,858,998, respectively. Evaluation of common NPC1 variants, however, suggests that there may be a late-onset NPC1 phenotype with a markedly higher incidence.
Fibroblasts from Niemann-Pick type C (NPC) disease patients with low levels of NPC1 protein have high amounts of procathepsin D but reduced quantities of the mature protein, thus showing a diminished cathepsin D (show CTSD ELISA Kits) activity.
Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11 (show ABCB11 ELISA Kits): p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders.
NPC1 mutations are substantially enriched in unexplained early onset ataxia, making it high risk group for Niemann-Pick disease 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.
Niemann-Pick C1 protein
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, Niemann-Pick disease, type C1
, Niemann-Pick C disease protein