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GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder caused by loss-of-function mutations in SLC2A10, which encodes facilitative glucose transporter 10 (GLUT10). The role of GLUT10 in ATS pathogenesis remains an enigma, and the transported metabolite(s), i.e. gluco...

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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Zoppi, Nicoletta, Chiarelli, Nicola, Cinquina, Valeria, Ritelli, Marco, Colombi, Marina
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4634379/
https://ncbi.nlm.nih.gov/pubmed/26376865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv382
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