Recombinant Mouse Niemann-Pick C1 protein (Npc1), partial

1. Mutation in the NPC1 gene is associated with Niemann-Pick type C. PMID: 28167839
2. This study shown Microglia can aggravate olfactory dysfunction by mediating neuronal death in the olfactory bulb (OB) of a murine model of Niemann-Pick disease type C1 (NPC1) PMID: 27687148
3. High-resolution respirometry analyses revealed that GSH-EE improved oxidative phosphorylation, coupled respiration and maximal electron transfer in cerebellum of Npc1(-/-) mice PMID: 27888692
4. the spleen is significantly enlarged in Npc1(-/-) mice. PMID: 27860245
5. Study is the first data to reveal motor and behavioral deficits in early maturity of Npc1+/- mice. PMID: 26942423
6. Npc1 gene interacts with a high fat diet to promote weight gain through differential regulation of central energy metabolism pathways. PMID: 28487438
7. 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. PMID: 28053186
8. Male NPC1+/- mice had increased fat storage while eating a high-fat diet. PMID: 28130309
9. Our data show that: i) HDAC2 levels and activity are increased in NPC neuronal models and in Npc1(-/-) mice; ii) inhibition of c-Abl or c-Abl deficiency prevents the increase of HDAC2 protein levels and activity in NPC neuronal models PMID: 26603102
10. activation of the alternative pathway is involved in Niemann-Pick C1 associated pulmonary macrophage accumulation, with low proliferation of these cells balanced by low levels of apoptosis. PMID: 26707209
11. 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. PMID: 25009206
12. These results show that NPC1 is critical for ebolavirus replication and pathogenesis in animals. PMID: 26015498
13. There was a transient increase in biliary cholesterol concentration in Npc1(-/-) mice. PMID: 25115571
14. data suggest that aberrant expression of Pcdhs is a pathological process accompanied by neurodegeneration in Npc1 mutant mice PMID: 24671883
15. This study deministrated that lack of NPC1 in either neurons or glial cells did not affect the excitability of Purkinje cells, the formation of dendrites or their excitatory synaptic activity. PMID: 24910948
16. Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. PMID: 24839095
17. These data show that cholesterol homeostasis through NPC1 plays a crucial role in maintaining insulin action at multiple levels in adipocytes. PMID: 24752197
18. Data suggest that axonal pathologies in Npc1 mutant spinal cord are strongly correlated with the increase of activated glial cells, which produce IL-1beta and ApoE, resulting in activation of p38-MAPK signaling pathway and enhanced phosphorylated tau protein PMID: 24644136
19. Metabolic profiling revealed markedly increased lactate and decreased acetate/acetyl-CoA levels in Npc1 (-/-) cerebellum and cerebral cortex at all ages PMID: 24367541
20. NPC1(-/-) animals present myelin-like lysosomal deposits in virtually all types of cells of the peripheral and central olfactory system. PMID: 24391715
21. Cav-1 has a regulatory role in pulmonary cholesterol metabolism when lysosomal sterol transport is disrupted in Npc1-deficient mice. PMID: 24747682
22. Npc1 and npc2 deficiencies result in pulmonary abnormalities observed in human Niemann-Pick type C disease. PMID: 23843985
23. NPC1 gene dosage effects in the metabolic features associated with type 2 diabetes mellitus. PMID: 23769925
24. lipid uptake and intracellular transport by neurons and oligodendrocytes through an Npc1-dependent pathway is required for both the formation and maintenance of CNS myelin. PMID: 23593041
25. Results demonstrate that HP-beta-CD works in cells of Npc1(-/-) mice by rapidly liberating lysosomal cholesterol for normal sterol processing within the cytosolic compartment. PMID: 22892156
26. These results suggest a novel mechanism for the interaction of fatty acids with the Npc1 gene to influence energy balance and to promote weight gain. PMID: 22990467
27. The results of this study suggest that at least in the somatosensory neocortex NPC1 protein is instrumental in synaptic function. PMID: 22325094
28. 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). PMID: 22526561
29. Npc1(-/-) mice that sensory thalamic pathways are particularly vulnerable to loss of NPC1 resulting in neurodegeneration in Npc1(-/-) mice. PMID: 22198570
30. Data show that global deletion of Npc1 in adult mice leads to progressive weight loss, impaired motor function and early death in a time course similar to that resulting from germline deletion. PMID: 21856732
31. NPC1 and NPC2 proteins participate in endosomal/lysosomal processing of both sphingolipids and cholesterol PMID: 21708114
32. In liver, absence of either NPC1 or NPC2 resulted in similar alterations in the carbohydrate processing of the lysosomal protease, tripeptidyl peptidase I. PMID: 21887293
33. Npc1 gene interacts with both a high-fat diet and modifying genes to promote additive weight gain, consistent with common human obesity being a complex multifactorial disease. PMID: 21815257
34. The NPC1 gene now represents a previously unrecognized gene involved in maintaining energy and metabolic homeostasis. PMID: 21036943
35. Npc1 deficiency in the C57BL6/J background is associated with spleen, erythrocyte, and immune system abnormalities that lead to a reduced lifespan. PMID: 21910975
36. The cholesterol binding site in the N-terminal domain of NPC1 is essential for cholesterol export from lysosomes in living animals as it is in cultured cells. PMID: 21896731
37. Weekly cyclodextrin administration overcomes the lysosomal transport defect associated with the NPC1 mutation, nearly normalizes hepatic and whole animal cholesterol pools, and prevents the development of liver disease. PMID: 20581737
38. Hepatic NPC1 expression is an important factor for regulating the biliary secretion of diet-derived cholesterol as well as for diet-induced cholesterol gallstone formation in mice. PMID: 20408952
39. decreased Npc1 gene dosage resulting in decreased Npc1 protein function, promoted weight gain in mice fed a high-fat diet consistent with a gene-diet interaction PMID: 19910939
40. In mice, loss of NPC1 function reduces hepatocyte TG content and secretion by increasing the metabolic flux of carbons into cholesterol synthesis. PMID: 20489167
41. Expression of genes in six pathways was significantly altered in the cerebellums of Npc1-/- mice; results provide novel molecular insight regarding the mechanisms of pathogenesis in NPC disease and reveal potential new therapeutic targets PMID: 20153740
42. a transport pathway for endosomal cholesterol to mitochondria that requires MLN64, but not NPC1 PMID: 19965586
43. NPC1 deficiency over the period examined caused drastic defects on exocytosis in both glutamatergic and GABAergic synapses. PMID: 20167265
44. Npc1 deficiency leads to cell autonomous, selective neurodegeneration and suggest that the ataxic symptoms of NPC disease arise from Purkinje cell death rather than cellular dysfunction PMID: 20007718
45. Data report that Niemann-Pick type C1 (Npc1) is distributed in distinct layers of the mouse retina and that its deficiency causes striking retinal degeneration in 2-month-old mice with signs of age-related maculopathies. PMID: 19883762
46. correction of sterility in GFAP-Npc1E, Npc1(-/-) mice is a result of restoring hypothalamic control of the pituitary PMID: 19875890
47. Data demonstrate that the cellular PrP(Sc) content decreases upon accumulation of cholesterol in late endosomes, as induced by NPC-1 knock-down. PMID: 19823766
48. mdr1a deficiency corrects sterility in Niemann-Pick C1 protein deficient female mice PMID: 11984826
49. NPC1, the gene for Niemann-Pick type C disease, characterized by an accumulation of cholesterol in most tissues, promoted B. abortus infection. PMID: 12183525
50. involved in enhanced ABCA1 degradation in ABCA1-mediated cholesterol efflux which is defective in free cholesterol-loaded macrophages PMID: 12215451

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KEGG: mmu:18145

STRING: 10090.ENSMUSP00000025279

UniGene: Mm.3484