ArticleThe Journal of biological chemistry2011
Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.
Article in The Journal of biological chemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed.
- Potential function of hepatic Niemann-Pick C1-like 1: cholesterol homeostasis regulation of the canalicular lipid bilayer membrane.Gastroenterology report · 2025Review
- NPC1L1 rs217434 A > G as a Novel Single Nucleotide Polymorphism Related to Dyslipidemia in a Korean Population.Biochemical genetics · 2024Article
- Binding of Cholesterol to the N-Terminal Domain of the NPC1L1 Transporter: Analysis of the Epimerization-Related Binding Selectivity and Loop Mutations.Journal of chemical information and modeling · 2024Article
- Aster-dependent nonvesicular transport facilitates dietary cholesterol uptake.Science (New York, N.Y.) · 2023Article
- GRAMD1/ASTER-mediated cholesterol transport promotes Smoothened cholesterylation at the endoplasmic reticulum.The EMBO journal · 2023Article
- FGF15 promotes hepatic NPC1L1 degradation in lithogenic diet-fed mice.Lipids in health and disease · 2022Article
- The cation-π interaction in cysteine-rich domain of Smoothened is critical for its cholesterylation and function.Acta biochimica et biophysica Sinica · 2022Article
- Updated Understanding of the Crosstalk Between Glucose/Insulin and Cholesterol Metabolism.Frontiers in cardiovascular medicine · 2022Review
- Molecular cloning and characterization of NPC1L1 in the Chinese tree shrew (Tupaia belangeri chinensis).Molecular biology reports · 2021Article
- FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.Scientific reports · 2021Article
- Structural insights into the mechanism of human NPC1L1-mediated cholesterol uptake.Science advances · 2021Article
- Effect and related mechanism of Yinchenhao decoction on mice with lithogenic diet-induced cholelithiasis.Experimental and therapeutic medicine · 2021Article
- Regulation of intestinal lipid metabolism: current concepts and relevance to disease.Nature reviews. Gastroenterology & hepatology · 2020Review
- Caco-2 Cells for Measuring Intestinal Cholesterol Transport - Possibilities and Limitations.Biological procedures online · 2020Article
- Computational Modeling Explains the Multi Sterol Ligand Specificity of the N-Terminal Domain of Niemann-Pick C1-Like 1 Protein.ACS omega · 2019Article
- Chaperoning Endoplasmic Reticulum-Associated Degradation (ERAD) and Protein Conformational Diseases.Cold Spring Harbor perspectives in biology · 2019Review
- Mechanisms of Niemann-Pick type C1 Like 1 protein degradation in intestinal epithelial cells.American journal of physiology. Cell physiology · 2019Article
- Pathomechanisms of Blood-Brain Barrier Disruption in ALS.Neuroscience journal · 2019Review
- Importance of Nutrients and Nutrient Metabolism on Human Health.The Yale journal of biology and medicine · 2018Review
- An update on the pathogenesis of cholesterol gallstone disease.Current opinion in gastroenterology · 2018Review
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Authors and funding
6 authors.
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Abstract
Niemann-Pick C1-like 1 (NPC1L1) is an essential protein for dietary cholesterol absorption. Nonsynonymous (NS) variants of NPC1L1 in humans have been suggested to associate with cholesterol absorption variations. However, information concerning the characteristics and mechanism of these variants in cholesterol uptake is limited. In this study, we analyzed the cholesterol uptake ability of the 19 reported NS variants of NPC1L1 identified from cholesterol low absorbers. Among these variants, L110F, R306C, A395V, G402S, T413M, R693C, R1214H, and R1268H could partially mediate cellular cholesterol uptake and were categorized as partially dysfunctional variants. The other 11 variants including T61M, N132S, D398G, R417W, G434R, T499M, S620C, I647N, G672R, S881L, and R1108W could barely facilitate cholesterol uptake, and were classified into the severely dysfunctional group. The partially dysfunctional variants showed mild defects in one or multiple aspects of cholesterol-regulated recycling, subcellular localization, glycosylation, and protein stability. The severely dysfunctional ones displayed remarkable defects in all these aspects and were rapidly degraded through the ER-associated degradation (ERAD) pathway. In vivo analyses using adenovirus-mediated expression in mouse liver confirmed that the S881L variant failed to localize to liver canalicular membrane, and the mice showed defects in biliary cholesterol re-absorption, while the G402S variant appeared to be similar to wild-type NPC1L1 in mouse liver. This study suggests that the dysfunction of the 19 variants on cholesterol absorption is due to the impairment of recycling, subcellular localization, glycosylation, or stability of NPC1L1.
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