|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mir-206 partially rescues myogenesis deficiency by inhibiting CUGBP1 accumulation in the cell models of myotonic dystrophy.
|
30281408 |
2019 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Steinert disease, or myotonic dystrophy type 1 (DM1), is a multisystemic disorder caused by toxic noncoding CUG repeat transcripts, leading to altered levels of two RNA binding factors, MBNL1 and CELF1.
|
29716962 |
2018 |
|
Myotonic Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, increased CELF1 level accompanied upregulated RRP6, and reduced Cx43 level was detected in mouse models with DCM, including myotonic dystrophy type 1 and CELF1 overexpression models and a myocardial infarction model.
|
28874395 |
2017 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
We sequenced DMPK and CNBP - associated with DM, as well as CELF1 (CUGBP, Elav-like family member 1) and MBNL1 (muscleblind-like splicing regulator 1) - associated with the pathomechanism of DM, for pathogenic variants, addressing the question whether defects in other genes could cause a DM-like phenotype.
|
27222292 |
2016 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
RNA binding proteins of the conserved CUGBP1, Elav-like factor (CELF) family contribute to heart and skeletal muscle development and are implicated in myotonic dystrophy (DM).
|
25883322 |
2015 |
|
Myotonic Dystrophy
|
0.100 |
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 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
CUGBP1 has been identified as a protein which binds to RNA CUG repeats expanded in Myotonic Dystrophy type 1 (DM1).
|
22446383 |
2012 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The role of other RNA-binding proteins beyond MBNL1 and CUGBP1, such as Staufen 1 and DDX5, are being identified and studied with respect to their role in myotonic dystrophy.
|
22892953 |
2012 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The RNA-mediated disease model for myotonic dystrophy (DM) proposes that microsatellite C(C)TG expansions express toxic RNAs that disrupt splicing regulation by altering MBNL1 and CELF1 activities.
|
22884328 |
2012 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2.
|
21889481 |
2011 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The first member of the family, CELF1/CUG-BP1, was identified through its role in myotonic dystrophy, type 1.
|
20622515 |
2011 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Taken together, our results indicate the occurrence of a mis-splicing event in myotonic dystrophy type 1 that is induced neither by a loss of muscleblind-like 1 (MBNL1) function nor by a gain of CUGBP1 and ETR3-like factor 1 (CELF1) function but is rather associated to CUGBP1 and ETR3-like factor 2 (CELF2) gain-of-function.
|
21439371 |
2011 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.
|
20603324 |
2010 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.
|
20051426 |
2010 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy.
|
18559347 |
2008 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation.
|
17936705 |
2007 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.
|
16723374 |
2006 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In myotonic dystrophy (DM1), both inactivation of muscleblind proteins and increased levels of CUG-BP1 are reported.
|
16946708 |
2006 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
LHGDN |
It is suggested that the CUG expansion associated with Type 1 myotonic dystrophy can affect the function or the activity of CUG-BP, leading to a trans-dominant effect on normal RNA processing.
|
12799066 |
2004 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The novel protein, CUG-BP, is particularly interesting since it binds to triplet repeats known to be present in myotonin protein kinase mRNA which is responsible for myotonic dystrophy.
|
8789448 |
1996 |