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 Due to a New Combination of ABCG8 Variants Presenting as Hemolytic Anemia and Macrothrombocytopenia.
Anum et al.
Jcem Case Reports, 2025
Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.
Williams K et al.
International Journal of Molecular Sciences, 2021
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
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 › TypeII_
Mutational studies of G553 in TM5 of ABCG2: a residue potentially involved in dimerization.
Polgar O et al.
Biochemistry, 2006
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
Graf GA et al.
The Journal of Biological Chemistry, 2004
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