Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.
Williams K et al.
International Journal of Molecular Sciences, 2021
ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.
Zein AA et al.
Biochemical Society Transactions, 2019
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Crystal structure of the human sterol transporter ABCG5/ABCG8.
Lee JY et al.
Nature, 2016
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
Graf GA et al.
The Journal of Biological Chemistry, 2004
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.
Heimerl S et al.
Human Mutation, 2002
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
Lu K et al.
American Journal of Human Genetics, 2001
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
Lee MH et al.
Nature Genetics, 2001
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.
Keller S et al.
European Journal of Medical Genetics, 0
Select a paper to view details