Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis

Rheumatology (Oxford). 2016 Jan;55(1):191-4. doi: 10.1093/rheumatology/kev350. Epub 2015 Sep 30.

Authors

Blanka Stiburkova¹, Hiroshi Miyata², Jakub Závada³, Michal Tomčík³, Karel Pavelka³, Gabriela Storkanova⁴, Yu Toyoda², Tappei Takada², Hiroshi Suzuki²

Affiliations

¹ Institute of Rheumatology, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and stiburkova@revma.cz.
² Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan.
³ Institute of Rheumatology.
⁴ Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and.

PMID: 26428519
DOI: 10.1093/rheumatology/kev350

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

ATP Binding Cassette Transporter, Subfamily G, Member 2
ATP-Binding Cassette Transporters / genetics*
ATP-Binding Cassette Transporters / metabolism
Gout* / genetics
Gout* / metabolism
Gout* / physiopathology
Humans
Molecular Biology
Motor Activity / physiology*
Neoplasm Proteins / genetics*
Neoplasm Proteins / metabolism
Polymorphism, Genetic*
Severity of Illness Index

Substances

ABCG2 protein, human
ATP Binding Cassette Transporter, Subfamily G, Member 2
ATP-Binding Cassette Transporters
Neoplasm Proteins