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author = "Klein, Arnaud F."
1
Found 2 documents, displaying page 1 of 1
Large CTG Repeats Trigger p16-Dependent Premature Senescence in Myotonic Dystrophy Type 1 Muscle Precursor Cells
Author(s) :
Bigot, Anne
,
Klein, Arnaud F.
,
Gasnier, Erwan
,
Jacquemin, Virginie
,
Ravassard, Philippe
,
Butler-Browne, Gillian
Description :
A CTG repeat amplification is responsible for the dominantly inherited neuromuscular disorder, myotonic dystrophy type 1 (DM1), which is characterized by progressive muscle wasting and weakness. The expanded (CTG)n tract not only alters the myogenic differentiation of the DM1 muscle precursor cells ...
Repository :
Europe PubMed Central
Language(s) :
English
New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats
Author(s) :
Laurent, François-Xavier
,
Sureau, Alain
,
Klein, Arnaud F.
,
Trouslard, François
,
Gasnier, Erwan
,
Furling, Denis
Description :
Myotonic Dystrophy type I (DM1) is caused by an abnormal expansion of CTG triplets in the 3′ UTR of the dystrophia myotonica protein kinase (DMPK) gene, leading to the aggregation of the mutant transcript in nuclear RNA foci. The expanded mutant transcript promotes the sequestration of the MBNL1 spl...
Repository :
Europe PubMed Central
Language(s) :
English
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Found 2 documents, displaying page 1 of 1