Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). (Q42946576)

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scientific article published on June 2010

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English	Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).	scientific article published on June 2010

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9 February 2020

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2) (English)

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myotonic dystrophy

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Massimo Santoro

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Marcella Masciullo

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Gabriella Silvestri

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Aldobrando Broccolini

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1 June 2010

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Experimental and Molecular Pathology

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9 February 2020

Myogenic defects in myotonic dystrophy

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy

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Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

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Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

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Muscleblind proteins regulate alternative splicing

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Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.

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Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy

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Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation

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The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

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MTM1 mutations in X-linked myotubular myopathy

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The myotubularin family: from genetic disease to phosphoinositide metabolism

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Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

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Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

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Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

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Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

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Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy

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Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

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Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy

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Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

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Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1.

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Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

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Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

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Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

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10.1016/J.YEXMP.2010.05.007

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Europe PubMed Central

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9 February 2020

PubMed publication ID

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Europe PubMed Central

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9 February 2020

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