Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.
FEBS Lett
; 590(11): 1630-40, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-27153185
ABSTRACT
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artérias
/
Dermatopatias Genéticas
/
Ácido Desidroascórbico
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Proteínas Facilitadoras de Transporte de Glucose
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Malformações Vasculares
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Instabilidade Articular
Limite:
Humans
Idioma:
En
Revista:
FEBS Lett
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Hungria