Associated Papers
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak M et al.
Journal of Translational Medicine, 2023
37587475 (PubMed )
Supplement: 12967_2023_4406_MOESM3_ESM.xlsx › Table_S4
A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.
Marín-Martín FR et al.
Cholesterol, 2014
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.
Singaraja RR et al.
Circulation Research, 2006
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.
Singaraja RR et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2003
Distinct sites on ABCA1 control distinct steps required for cellular release of phospholipids.
Rigot V et al.
Journal of Lipid Research, 2002
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