Genomics,Multiomics

Dataset Information

0

Homo sapiens


ABSTRACT: Misregulation of alternative splicing of BIN1 leads to T-tubule alterations and muscle weakness in myotonic dystrophy

OTHER RELATED OMICS DATASETS IN: E-GEOD-21795

PROVIDER: PRJNA126949 | ENA |

REPOSITORIES: ENA

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Publications

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

Fugier Charlotte C   Klein Arnaud F AF   Hammer Caroline C   Vassilopoulos Stéphane S   Ivarsson Ylva Y   Toussaint Anne A   Tosch Valérie V   Vignaud Alban A   Ferry Arnaud A   Messaddeq Nadia N   Kokunai Yosuke Y   Tsuburaya Rie R   de la Grange Pierre P   Dembele Doulaye D   Francois Virginie V   Precigout Guillaume G   Boulade-Ladame Charlotte C   Hummel Marie-Christine MC   Lopez de Munain Adolfo A   Sergeant Nicolas N   Laquerrière Annie A   Thibault Christelle C   Deryckere François F   Auboeuf Didier D   Garcia Luis L   Zimmermann Pascale P   Udd Bjarne B   Schoser Benedikt B   Takahashi Masanori P MP   Nishino Ichizo I   Bassez Guillaume G   Laporte Jocelyn J   Furling Denis D   Charlet-Berguerand Nicolas N  

Nature medicine 20110529 6


Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) and myotonic dystrophy of type 1 (DM1) or of type 2 (DM2) are caused by the expression of mutant RNAs containing expanded CUG or CCUG repeats, respectively. These mutant RNAs sequester the splicing regulator Muscleblind-like-1 (MBNL1), resulting in specific misregulation of the alternative splicing of other pre-mRNAs. We found that a  ...[more]

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