CELF1, CUGBP Elav-like family member 1, 10658

N. diseases: 63; N. variants: 11
Disease: Dystrophia myotonica 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.030 AlteredExpression disease BEFREE Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2. 24376746 2013
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.030 AlteredExpression disease BEFREE Therefore, we analyzed MTMR1 expression in correlation with CUG-binding protein1 (CUG-BP1) and muscleblind-like1 protein (MBNL1) steady-state levels and with morphological features in muscle tissues from DM1 and myotonic dystrophy type 2 (DM2) patients. 20685272 2010
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.030 Biomarker disease BEFREE Consistent with the biological functions of the 20S proteasome and the CUGBP1-eIF2 complexes, the stability of short-lived proteins and the levels of the translational targets of CUGBP1 were shown to be elevated in DM2 myoblasts. 19590039 2009