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- Title
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.
- Authors
Stiburkova, Blanka; Hiroshi Miyata; Závada, Jakub; Tomčík, Michal; Pavelka, Karel; Storkanova, Gabriela; Yu Toyoda; Tappei Takada; Hiroshi Suzuki
- Abstract
The article presents a biochemical, molecular genetic, and functional case study that highlights dysfunctional variants of urate transporter ABCG2 as a genetic factor in hyperuricaemia and gout. Topics include urate associated with purine metabolic disorders and/or with uromodulin-associated disorders, the pathophysiological significance of ABCG2 gene as a risk factor for gout, and the effect of ΔE6 and &#916E6-&#916E9 mutations on ABCG2 transport activity.
- Subjects
GOUT; BIOCHEMISTRY; CYTOGENETICS; GENETICS; GENOMES; RESEARCH methodology; RESEARCH funding
- Publication
Rheumatology, 2016, Vol 55, Issue 1, p191
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/kev350