Dataset Information
Microarray expression data from three arterial tortuosity syndrome (ATS) patients' skin fibroblasts with recessive SLC2A10 mutations
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Nicola Chiarelli
PROVIDER: E-GEOD-70683 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
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.
Human molecular genetics 20150916 23
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. glucose and/or dehydroascorbic acid, have not been clearly elucidated. To discern the molecular mechanisms underlying the ATS aetiology, we performed gene expression profiling and biochemical studies on sk ...[more]
