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

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

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

http://www.wikidata.org/entity/Q30441256

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MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 Myotonic dystrophy protein kinase is critical for nuclear envelope integrity Feedback Regulation of Kinase Signaling Pathways by AREs and GREs Myotonic dystrophy: is a narrow focus obscuring the rest of the field?Structure of dystrophia myotonica protein kinase Development of an AP-FRET based analysis for characterizing RNA-protein interactions in myotonic dystrophy (DM1)The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing Therapeutics development in myotonic dystrophy type 1.PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1.CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features.Repression of nuclear CELF activity can rescue CELF-regulated alternative splicing defects in skeletal muscle models of myotonic dystrophy Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.Long tract of untranslated CAG repeats is deleterious in transgenic mice Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.Expression of a dominant negative CELF protein in vivo leads to altered muscle organization, fiber size, and subtype.In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1 RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing.RNA-protein interactions in unstable microsatellite diseases.RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1 Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability.Identification of MBNL1 and MBNL3 domains required for splicing activation and repression.Alternative splicing dysregulation secondary to skeletal muscle regeneration.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2 Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model.Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.GSK3β mediates muscle pathology in myotonic dystrophy Alternative splicing and muscular dystrophy.Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.Neurodegeneration the RNA way RNA-binding protein CELF1 promotes tumor growth and alters gene expression in oral squamous cell carcinoma.Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis CELFish ways to modulate mRNA decay.Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.Animal models of muscular 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

http://www.wikidata.org/entity/Q30441256

description

2008 nî lūn-bûn

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2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2008 թվականի փետրվարին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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Expanded CTG repeats within th ...... e model for myotonic dystrophy

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Expanded CTG repeats within th ...... e model for myotonic dystrophy

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Proceedings of the National Academy of Sciences of the United States of America

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Expanded CTG repeats within th ...... e model for myotonic dystrophy

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Daniel Metzger

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Dennis R Mosier

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G Jackson Snipes

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Thomas A Cooper

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P2860

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

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

Muscleblind proteins regulate alternative splicing

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

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

CUG-BP binds to RNA substrates and recruits PARN deadenylase

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

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

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

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

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105

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18272483

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2268190

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