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Article

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

PloS one - 1 Jan 2013

Cardani Rosanna, Bugiardini Enrico, Renna Laura V, Rossi Giulia, Colombo Graziano, Valaperta Rea, Novelli Giuseppe, Botta Annalisa, Meola Giovanni

Abstract excerpt

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant alternative splicing of specific pre-mRNAs by altering the functions of two RNA binding proteins, MBNL1 and CUGBP1. However, DM1 and DM2 show disease-specific...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24376746
DOI: 10.1371/journal.pone.0083777
PMCID: PMC3869793

Genes

MBNL1

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