Molecular Characterization of the NPC1L1 Variants Identified from Cholesterol Low Absorbers

A SNP of NPC1L1 Affects Cholesterol Absorption in Japanese

(2011) Tomomi Maeda et al.   Journal of Atherosclerosis and Thrombosis

Niemann–Pick C1 Like 1 (NPC1L1) an intestinal sterol transporter

(2009) Harry R. Davis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Identification of a Physiologically Relevant Endogenous Ligand for PPARα in Liver

(2009) Manu V. Chakravarthy et al.   CELL

Requirement of Myosin Vb·Rab11a·Rab11-FIP2 Complex in Cholesterol-regulated Translocation of NPC1L1 to the Cell Surface

(2009) Bei-Bei Chu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic

(2009) Rina Glozman et al.   JOURNAL OF CELL BIOLOGY

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

(2009) Chun-Wu Chen et al.   JOURNAL OF HUMAN GENETICS

Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption

(2009) Jiang Wang et al.   JOURNAL OF LIPID RESEARCH

Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly

(2009) Eliana Polisecki et al.   JOURNAL OF LIPID RESEARCH

An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia

(2009) B. Martín et al.   NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers

(2009) Yoshihide Yamanashi et al.   Pharmacogenetics and Genomics

The Cholesterol Absorption Inhibitor Ezetimibe Acts by Blocking the Sterol-Induced Internalization of NPC1L1

(2008) Liang Ge et al.   Cell Metabolism

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

(2008) Saleemah Fahmi et al.   HUMAN MOLECULAR GENETICS

Genetic Variation in ABC G5/G8 and NPC1L1 Impact Cholesterol Response to Plant Sterols in Hypercholesterolemic Men

(2008) Hai L. Zhao et al.   LIPIDS

Extracellular loop C of NPC1L1 is important for binding to ezetimibe

(2008) A. B. Weinglass et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanisms of EHD/RME-1 Protein Function in Endocytic Transport

(2008) Barth D. Grant et al.   TRAFFIC