(Q34349806)

1 August 2017

title

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. (English)

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1 August 2017

Giovanni Meola

13

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author name string

Anna Vihola

1

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1 August 2017

Linda L Bachinski

2

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1 August 2017

Mario Sirito

3

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1 August 2017

Shodimu-Emmanuel Olufemi

4

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1 August 2017

Shohrae Hajibashi

5

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1 August 2017

Keith A Baggerly

6

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1 August 2017

Olayinka Raheem

7

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1 August 2017

Hannu Haapasalo

8

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1 August 2017

Tiina Suominen

9

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1 August 2017

Jeanette Holmlund-Hampf

10

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1 August 2017

Anders Paetau

11

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1 August 2017

Rosanna Cardani

12

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1 August 2017

Hannu Kalimo

14

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1 August 2017

Lars Edström

15

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1 August 2017

Ralf Krahe

16

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1 August 2017

Bjarne Udd

17

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1 August 2017

publication date

12 January 2010

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1 August 2017

published in

Acta Neuropathologica

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1 August 2017

volume

119

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1 August 2017

issue

4

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1 August 2017

page(s)

465-479

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Reduction of the rate of protein translation in patients with myotonic dystrophy 2

1 August 2017

cites work

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Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients

6 July 2018

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GSK3beta-cyclin D3-CUGBP1-eIF2 pathway in aging and in myotonic dystrophy

6 July 2018

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Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia

6 July 2018

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

6 July 2018

1 reference

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Conserved GU-rich elements mediate mRNA decay by binding to CUG-binding protein 1

6 July 2018

1 reference

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Histone deacetylase degradation and MEF2 activation promote the formation of slow-twitch myofibers

6 July 2018

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Zaspopathy in a large classic late-onset distal myopathy family

6 July 2018

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6 July 2018

RNA-dominant diseases

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

6 July 2018

1 reference

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RNA-mediated neuromuscular disorders

6 July 2018

1 reference

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

6 July 2018

1 reference

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140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

6 July 2018

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Functional consequence of mutation in rat cardiac troponin T is affected differently by myosin heavy chain isoforms

6 July 2018

1 reference

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CUG-BP binds to RNA substrates and recruits PARN deadenylase

6 July 2018

1 reference

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Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1.

6 July 2018

1 reference

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Coupled expression of troponin T and troponin I isoforms in single skeletal muscle fibers correlates with contractility

6 July 2018

1 reference

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Myocyte enhancer factor-2 and serum response factor binding elements regulate fast Myosin heavy chain transcription in vivo.

6 July 2018

1 reference

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Mutations in ZASP define a novel form of muscular dystrophy in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype

6 July 2018

1 reference

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Insulin receptor splicing alteration in myotonic dystrophy type 2.

6 July 2018

1 reference

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A muscleblind knockout model for myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Intracellular calcium and myosin isoform transitions. Calcineurin and calcium-calmodulin kinase pathways regulate preferential activation of the IIa myosin heavy chain promoter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

MEF2: a calcium-dependent regulator of cell division, differentiation and death

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Molecular basis for impaired muscle differentiation in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Abundant expression of myosin heavy-chain IIB RNA in a subset of human masseter muscle fibres

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

ZASP: a new Z-band alternatively spliced PDZ-motif protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Cloning of human RTEF-1, a transcriptional enhancer factor-1-related gene preferentially expressed in skeletal muscle: evidence for an ancient multigene family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

MEF2B is a potent transactivator expressed in early myogenic lineages

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q.

6 July 2018

1 reference

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Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

21 January 2018

1 reference

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https://api.crossref.org/works/10.1007%2FS00401-010-0637-6

Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2).

21 January 2018

1 reference

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Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands

27 October 2018

1 reference

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Characterization and in vivo functional analysis of splice variants of cypher

27 October 2018

1 reference

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Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

27 October 2018

1 reference

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New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199327

Muscle pathology in 57 patients with myotonic dystrophy type 2

27 October 2018

1 reference

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Expression of myogenic regulatory factors (MRFs) in human neuromuscular disorders

27 October 2018

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12 December 2020

NCAM, vimentin and neonatal myosin heavy chain expression in human muscle diseases

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12 December 2020

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

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12 December 2020

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

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12 December 2020

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

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12 December 2020

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12 December 2020

Nuclear RNA foci in the heart in myotonic dystrophy

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12 December 2020

The calcineurin pathway links hyperpolarization (Kir2.1)-induced Ca2+ signals to human myoblast differentiation and fusion

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12 December 2020

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy

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12 December 2020

10.1007/S00401-010-0637-6

Identifiers

DOI

1 reference

Dimensions Publication ID

1 August 2017

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1 August 2017

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