Literature DB >> 16254211

Nuclear RNA foci in the heart in myotonic dystrophy.

Ami Mankodi1, Xiaoyan Lin, Burns C Blaxall, Maurice S Swanson, Charles A Thornton.   

Abstract

The disease mechanism underlying myotonic dystrophy type 1 (DM1) pathogenesis in skeletal muscle may involve sequestration of RNA binding proteins in nuclear foci of expanded poly(CUG) RNA. Here we report evidence for a parallel mechanism in the heart. Accumulation of expanded poly(CUG) RNA in nuclear foci is associated with sequestration of muscleblind proteins and abnormal regulation of alternative splicing in DM1 cardiac muscle. A toxic effect of RNA with an expanded repeat may contribute to cardiac disease in DM1.

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Year:  2005        PMID： 16254211     DOI： 10.1161/01.RES.0000193598.89753.e3

Source DB:  PubMed          Journal:  Circ Res        ISSN： 0009-7330            Impact factor:   17.367


  56 in total

1.  Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching.

Authors:  Raman Parkesh; Jessica L Childs-Disney; Masayuki Nakamori; Amit Kumar; Eric Wang; Thomas Wang; Jason Hoskins; Tuan Tran; David Housman; Charles A Thornton; Matthew D Disney
Journal:  J Am Chem Soc       Date:  2012-03-05       Impact factor: 15.419

Review 2.  The biological effects of simple tandem repeats: lessons from the repeat expansion diseases.

Authors:  Karen Usdin
Journal:  Genome Res       Date:  2008-07       Impact factor: 9.043

3.  Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.

Authors:  Mani S Mahadevan; Ramesh S Yadava; Qing Yu; Sadguna Balijepalli; Carla D Frenzel-McCardell; T David Bourne; Lawrence H Phillips
Journal:  Nat Genet       Date:  2006-07-30       Impact factor: 38.330

Review 4.  Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.

Authors:  Giovanni Meola; Rosanna Cardani
Journal:  Neurol Sci       Date:  2017-01-11       Impact factor: 3.307

Review 5.  Myotonic dystrophy.

Authors:  Charles A Thornton
Journal:  Neurol Clin       Date:  2014-06-06       Impact factor: 3.806

6.  Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

Authors:  Ellis Y Kim; David Y Barefield; Andy H Vo; Anthony M Gacita; Emma J Schuster; Eugene J Wyatt; Janel L Davis; Biqin Dong; Cheng Sun; Patrick Page; Lisa Dellefave-Castillo; Alexis Demonbreun; Hao F Zhang; Elizabeth M McNally
Journal:  JCI Insight       Date:  2019-03-21

7.  Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy.

Authors:  Chaitali Misra; Sushant Bangru; Feikai Lin; Kin Lam; Sara N Koenig; Ellen R Lubbers; Jamila Hedhli; Nathaniel P Murphy; Darren J Parker; Lawrence W Dobrucki; Thomas A Cooper; Emad Tajkhorshid; Peter J Mohler; Auinash Kalsotra
Journal:  Dev Cell       Date:  2020-02-27       Impact factor: 12.270

8.  Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.

Authors:  Samuel T Carrell; Ellie M Carrell; David Auerbach; Sanjay K Pandey; C Frank Bennett; Robert T Dirksen; Charles A Thornton
Journal:  Hum Mol Genet       Date:  2016-08-13       Impact factor: 6.150

9.  Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy.

Authors:  Guey-Shin Wang; Debra L Kearney; Mariella De Biasi; George Taffet; Thomas A Cooper
Journal:  J Clin Invest       Date:  2007-10       Impact factor: 14.808

10.  Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene.

Authors:  Beatriz Llamusí; Ruben Artero
Journal:  Curr Genomics       Date:  2008-12       Impact factor: 2.236
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