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Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport
Author(s) -
Németh Csilla E.,
Marcolongo Paola,
Gamberucci Alessandra,
Fulceri Rosella,
Benedetti Angiolo,
Zoppi Nicoletta,
Ritelli Marco,
Chiarelli Nicola,
Colombi Marina,
Willaert Andy,
Callewaert Bert L.,
Coucke Paul J.,
Gróf Pál,
Nagy Szilvia K.,
Mészáros Tamás,
Bánhegyi Gábor,
Margittai Éva
Publication year - 2016
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1002/1873-3468.12204
Subject(s) - dehydroascorbic acid , glucose transporter , transporter , in vitro , chemistry , microbiology and biotechnology , biochemistry , biology , gene , endocrinology , vitamin c , insulin
Loss‐of‐function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS), a rare connective tissue disorder. In this study GLUT10‐mediated dehydroascorbic acid (DAA) transport was investigated, supposing its involvement in the pathomechanism. GLUT10 protein produced by in vitro translation and incorporated into liposomes efficiently transported DAA. Silencing of GLUT10 decreased DAA transport in immortalized human fibroblasts whose plasma membrane was selectively permeabilized. Similarly, the transport of DAA through endomembranes was markedly reduced in fibroblasts from ATS patients. Re‐expression of GLUT10 in patients’ fibroblasts restored DAA transport activity. The present results demonstrate that GLUT10 is a DAA transporter and DAA transport is diminished in the endomembranes of fibroblasts from ATS patients.