(Q37940388)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

review article

1 reference

title

Repeat expansion diseases: when a good RNA turns bad (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

2

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13 February 2020

author name string

Alexa M Dickson

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

publication date

25 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

Wiley interdisciplinary reviews. RNA

13 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

173-192

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

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

13 February 2020

cites work

1 reference

Anticipation in myotonic dystrophy: fact or fiction?

21 January 2018

1 reference

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells

21 January 2018

1 reference

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci

21 January 2018

1 reference

SCA10 and ATTCT repeat expansion: clinical features and molecular aspects

21 January 2018

1 reference

RNA gain-of-function in spinocerebellar ataxia type 8.

21 January 2018

1 reference

Pathogenic mechanisms of myotonic dystrophy

21 January 2018

1 reference

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

21 January 2018

1 reference

Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci

21 January 2018

1 reference

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

21 January 2018

1 reference

Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles

21 January 2018

1 reference

Protein composition of the intranuclear inclusions of FXTAS.

21 January 2018

1 reference

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

21 January 2018

1 reference

Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration

21 January 2018

1 reference

Why is SCA12 different from other SCAs?

21 January 2018

1 reference

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

21 January 2018

1 reference

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

21 January 2018

1 reference

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

21 January 2018

1 reference

Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs

21 January 2018

1 reference

A muscleblind knockout model for myotonic dystrophy

21 January 2018

1 reference

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing

21 January 2018

1 reference

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

21 January 2018

1 reference

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

21 January 2018

1 reference

MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1

21 January 2018

1 reference

Insulin receptor splicing alteration in myotonic dystrophy type 2.

21 January 2018

1 reference

Muscleblind proteins regulate alternative splicing

21 January 2018

1 reference

ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence

21 January 2018

1 reference

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

21 January 2018

1 reference

RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.

21 January 2018

1 reference

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

21 January 2018

1 reference

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue

21 January 2018

1 reference

Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR

21 January 2018

1 reference

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy

21 January 2018

1 reference

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

21 January 2018

1 reference

Chromatin remodeling in the noncoding repeat expansion diseases

21 January 2018

1 reference

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

21 January 2018

1 reference

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

21 January 2018

1 reference

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.

21 January 2018

1 reference

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

21 January 2018

1 reference

PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1.

21 January 2018

1 reference

Myotonic dystrophy expanded CUG repeats disturb the expression and phosphorylation of tau in PC12 cells

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

RNA-mediated neuromuscular disorders

21 January 2018

1 reference

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

21 January 2018

1 reference

EDEN and EDEN-BP, a cis element and an associated factor that mediate sequence-specific mRNA deadenylation in Xenopus embryos.

21 January 2018

1 reference

CUG-BP binds to RNA substrates and recruits PARN deadenylase

21 January 2018

1 reference

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

21 January 2018

1 reference

The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy

21 January 2018

1 reference

Competition of CUGBP1 and calreticulin for the regulation of p21 translation determines cell fate

21 January 2018

1 reference

CUG repeat binding protein (CUGBP1) interacts with the 5' region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

21 January 2018

1 reference

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

21 January 2018

1 reference

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis

21 January 2018

1 reference

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

21 January 2018

1 reference

Structures of trinucleotide repeats in human transcripts and their functional implications.

21 January 2018

1 reference

Progressive GAA.TTC repeat expansion in human cell lines

21 January 2018

1 reference

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

21 January 2018

1 reference

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

21 January 2018

1 reference

Recent progress in spinocerebellar ataxia type-10 (SCA10).

21 January 2018

1 reference

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

21 January 2018

1 reference

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression

21 January 2018

1 reference

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

21 January 2018

1 reference

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

21 January 2018

1 reference

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective

21 January 2018

1 reference

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

21 January 2018

1 reference

Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3' untranslated region transcripts

21 January 2018

1 reference

Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features

21 January 2018

1 reference

The effect of myotonic dystrophy transcript levels and location on muscle differentiation

21 January 2018

1 reference

Genetic and chemical modifiers of a CUG toxicity model in Drosophila

21 January 2018

1 reference

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

21 January 2018

1 reference

Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions

21 January 2018

1 reference

Allele-specific silencing of dominant disease genes

21 January 2018

1 reference

Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts

21 January 2018

1 reference

RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model

21 January 2018

1 reference

Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype.

21 January 2018

1 reference

Sequence-specific cleavage of Huntingtin mRNA by catalytic DNA.

21 January 2018

1 reference

Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

21 January 2018

1 reference

Pentamidine reverses the splicing defects associated with myotonic dystrophy.

21 January 2018

1 reference

A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.

21 January 2018

1 reference

Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3.

21 January 2018

1 reference

Dynamic combinatorial selection of molecules capable of inhibiting the (CUG) repeat RNA-MBNL1 interaction in vitro: discovery of lead compounds targeting myotonic dystrophy (DM1).

21 January 2018

1 reference

MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.

21 January 2018

1 reference

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.

21 January 2018

1 reference

Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3.

21 January 2018

1 reference

Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases

21 January 2018

1 reference

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/WRNA.18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21956913%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference