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

Nicoletta Zoppi(University of Brescia), Marina Colombi(University of Brescia)

Human Molecular Genetics

September 16, 2015

10.1093/hmg/ddv382

Cited by 48

Related Papers

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome

|PLoS ONE|2018|43

Bridging the Diagnostic Gap for Hypermobile Ehlers‐Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker

|American Journal of Medical Genetics Part A|2024|17