(Q34142078)

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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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Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

Ami Mankodi

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Masanori P Takahashi

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Hong Jiang

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Carol L Beck

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

William J Bowers

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Richard T Moxley

6

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Stephen C Cannon

7

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Charles A Thornton

8

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

publication date

1 July 2002

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

10

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Europe PubMed Central

PubMed publication ID

31 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

35-44

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

On the repetitive discharge in myotonic muscle fibres

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Molecular basis for decreased muscle chloride conductance in the myotonic goat

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Possible role of apamin-sensitive K+ channels in myotonic dystrophy

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DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

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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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Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats

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Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

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

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Chloride conductance in mouse muscle is subject to post‐transcriptional compensation of the functional Cl− channel 1 gene dosage

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Membrane ionic conductances in normal and denervated skeletal muscle of the rat during development

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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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In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

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Characteristics of Na+ channels and Cl- conductance in resealed muscle fibre segments from patients with myotonic dystrophy

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Altered Na+ channel activity and reduced Cl? conductance cause hyperexcitability in recessive generalized myotonia (becker)

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The pathophysiology of myotonia produced by aromatic carboxylic acids

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Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice

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Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

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The skeletal muscle chloride channel in dominant and recessive human myotonia

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Drug-induced myotonia in human intercostal muscle

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Voltage-gated ion channels and hereditary disease

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Sodium, Potassium, and Chloride Fluxes in Intercostal Muscle from Normal Goats and Goats with Hereditary Myotonia

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

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Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

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

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Quality control of mRNA function

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Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

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

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Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

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Modulation of skeletal muscle sodium channels by human myotonin protein kinase

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A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

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

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Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

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

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Inactivation of muscle chloride channel by transposon insertion in myotonic mice

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

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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

1 reference

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Identifiers

10.1016/S1097-2765(02)00563-4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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