CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
Disease: Cystic Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 Biomarker disease BEFREE The recovery of functional F(508)del-CFTR at the physiological location, in cells treated with a synthetic calpain inhibitor, indicates that F(508)del-CFTR folding, maturation, and trafficking operate in CF-PBMC at significant rate. 23785472 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 AlteredExpression disease BEFREE In fact, calpain basal activity, almost undetectable in control PBMC, becomes measurable at a significant extent in cells from cystic fibrosis (CF) patients, also due to a 40-60% decrease in both calpastatin protein and inhibitory activity. 21983488 2011