DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Mitochondrial abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.020 Biomarker disease BEFREE To investigate the underlying mechanisms of how the defects of desmin cause mitochondrial abnormalities in desminopathy. 27719747 2017
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.020 Biomarker disease BEFREE We demonstrate that the expression of mutant desmin causes disruption of the extrasarcomeric desmin cytoskeleton and extensive mitochondrial abnormalities regarding subcellular distribution, number and shape. 27393313 2016