Although BOMV is not known to infect humans, its envelope glycoprotein shares the same NPC1
receptor as other filoviruses and is capable of mediating BOMV pseudotype virus entry into human cells (2).
cerevisiae) ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein TOR1A torsin family 1, member A (torsin A) PTPRK protein tyrosine phosphatase, receptor type, K SESN1 sestrin 1 TXLNA taxilin alpha DCK deoxycytidine kinase RSU1 Ras suppressor protein 1 MTF2 metal response element binding transcription factor 2 SPAG7 sperm associated antigen 7 NCOA3 nuclear receptor coactivator 3 GFPT1 glutamine-fructose-6-phosphate transaminase 1 MBNL1 muscleblind-like (Drosophila) PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) NPC1
Niemann-Pick disease, type C1 ANO10 anoctamin 10 CDK7 cyclin-dependent kinase 7 B Gene Symbol Gene Title ELAC2 elaC homolog 2 (E.
Niemann-Pick disease Type C affects 1:100,000 live births and is most commonly caused by dysfunction of the NPC1
protein leading to the accumulation of lipids in lysosomes, resulting in impaired cell function and cell death in various organs, leading to a spectrum of symptoms in NPC patients.
Se asocia con la mutacion de NPC1
en el 95% de los casos y una mutacion de NPC2 en el 4% (66).
Since these results made the condition unlikely to be as a result of Gaucher, Niemann-Pick disease Type A-B and Wolman diseases, further studies were performed including Next Generation Sequencing of NPC1
gene, which was carried out on DNA isolated from leukocytes, for NP-C.
Interestingly, heterozygous genotypes of some SNPs were associated with the most favorable blood lipid phenotype compared to both homozygous groups, including rs8192678 (PPARGC1A), rs1052700 (PLIN1), rs894160 (PLIN1), rs7799039 (LEP), rs6567160 (MC4R), rs3813929 (HTR2C), rs11091046 (AGTR2), rs1386835 (PPARG), and rs1805081 (NPC1
The efflux of 4% of total cholesterol in peritoneal macrophages from WT mouse was reduced by 2-fold in the peritoneal macrophages with knockout in Niemann-Pick disease, type C1 (NPC1
) protein .
, ratio between the domestic prices of maize and corresponding import parity price, for the study period averages at 0.85, implying 15 percent implicit taxation of maize, if we use the import parity to represent opportunity cost of domestic production.
However, while LDL-C--lowering alleles in or near NPC1
like intracellular cholesterol transporter 1 (NPC1L1), the molecular target of ezetimibe representing the third major mechanism by which LDL-C--lowering treatment acts, have been shown to be associated with lower risk of CHD, Lotta et al.
Notably, these haploid cell screens identified six members of the HOPS complex, proteins known to play functions in endosomal/lysosomal trafficking, as well as the Niemann-Pick C1 (NPC1
) transporter as the most prominent hit of the assay.
, intracellular cholesterol trafficking and atherosclerosis," Clinica Chimica Acta, vol.