Association of Niemann-Pick disease, type C2 (NPC2) polymorphisms with obesity in Korean population

SK Kim, HJ Park, JS Lee, HK Park, DJ Jo… - Molecular & cellular …, 2010 - Springer
Cholesterol homeostasis is essential for functional integrity of lipid. Niemann-Pick disease,
type C2 (NPC2) encodes a protein containing a lipid recognition domain. NPC2 is related to …

NPC1L1 rs217434 A> G as a Novel Single Nucleotide Polymorphism Related to Dyslipidemia in a Korean Population

D Cho, X Huang, Y Han, M Kim - Biochemical Genetics, 2024 - Springer
A relationship between cholesterol levels and Niemann-Pick C1-Like 1 (NPC1L1)
polymorphisms in diverse populations was found in previous studies. However, relevant …

[HTML][HTML] Interaction of functional NPC1gene Polymorphism with smoking on coronary heart disease

W Ma, J Xu, Q Wang, Y Xin, L Zhang, X Zheng… - BMC Medical …, 2010 - Springer
Abstract Background The protein of Niemann-pick type C1 gene (NPC1) is known to
facilitate the egress of cholesterol and other lipids from late endosomes and lysosomes to …

[HTML][HTML] The g.− 762T> C polymorphism of the NPC1L1 gene is common in Chinese and contributes to a higher promoter activity and higher serum cholesterol levels

CW Chen, JJ Hwang, CT Tsai, YN Su… - Journal of human …, 2009 - nature.com
Niemann–Pick type C1-like 1 (NPC1L1) protein is responsible for intestinal cholesterol
absorption. The aim of the study was to identify genetic polymorphisms of the NPC1L1 gene …

Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels

RL Uronen, P Lundmark, M Orho-Melander… - … , and vascular biology, 2010 - Am Heart Assoc
Objective—To study how Niemann-Pick disease type C1 (NPC1) influences hepatic
triacylglycerol (TG) metabolism and to determine whether this is reflected in circulating lipid …

[HTML][HTML] Association between the rs1805081 polymorphism of Niemann‑Pick type C1 gene and cardiovascular disease in a sample of an Iranian population

M Afzali, M Hashemi, SP Tabatabaei… - Biomedical …, 2017 - spandidos-publications.com
The aim of the present study was to investigate the association between a genetic variation,
A+ 644G, in the Niemann‑Pick type C1 (NPC1) gene and the risk of cardiovascular disease …

[HTML][HTML] Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations

L Miao, RX Yin, XJ Hu, DF Wu, XL Cao, Q Li… - Lipids in health and …, 2012 - Springer
Background Niemann-pick C1-like 1 (NPC1L1) is a key protein for intestinal cholesterol
transportation. Common single nucleotide polymorphisms (SNPs) in the NPC1L1 gene have …

Evidence for a Niemann–Pick C (NPC) gene family: identification and characterization of NPC1L1

JP Davies, B Levy, YA Ioannou - Genomics, 2000 - Elsevier
Niemann–Pick type C1 (NPC1) disease is caused by defects in the NPC1 protein, which
result in perturbation of subcellular cholesterol transport. To identify related proteins that …

Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity

R Liu, Y Zou, J Hong, M Cao, B Cui, H Zhang… - Diabetes, 2017 - Am Diabetes Assoc
Some Shanghai Clinical Center fa role of Niemann-Pick type C1 (NPC1) for obesity traits.
However, whether the loss-of-function mutations in NPC1 cause adiposity in humans …

[HTML][HTML] Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population

R Osaki, H Imaeda, K Takahashi… - Biomedical …, 2013 - spandidos-publications.com
Abstract The Niemann-Pick C1 like 1 (NPC1L1) protein is a polytopic transmembrane
protein responsible for dietary cholesterol absorption. Genetic variation in the NPC1L1 gene …