Triplet repeat expansion in neuromuscular disease (Q33936621)

30 July 2017

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title

Triplet repeat expansion in neuromuscular disease (English)

1 reference

30 July 2017

Lieberman AP

1

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30 July 2017

Fischbeck KH

series ordinal

2

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30 July 2017

publication date

1 June 2000

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30 July 2017

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30 July 2017

volume

23

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30 July 2017

issue

6

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30 July 2017

page(s)

843-850

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Spinobulbar muscular atrophy: polyglutamine-expanded androgen receptor is proteolytically resistant in vitro and processed abnormally in transfected cells.

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Last but not least: regulated poly(A) tail formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

X-linked recessive bulbospinal neuronopathy: a report of ten cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Ectopically Expressed CAG Repeats Cause Intranuclear Inclusions and a Progressive Late Onset Neurological Phenotype in the Mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Trinucleotide repeats in neurogenetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Genetic mapping of a second myotonic dystrophy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8

21 January 2018

Identifiers

DOI

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release_uugi64gyk5h2rivvsolic3njwa

30 July 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/uugi64gyk5h2rivvsolic3njwa

mapped directly with Wikidata item

24 November 2022

based on heuristic

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