MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q28293693

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Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy The pathobiology of splicing Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities.HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.Genetic and chemical modifiers of a CUG toxicity model in Drosophila Disease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein Kinase Cβ New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.Mechanistic determinants of MBNL activity 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 Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action.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.Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript.Controlling the specificity of modularly assembled small molecules for RNA via ligand module spacing: targeting the RNAs that cause myotonic muscular dystrophy Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.The role of flexibility in the rational design of modularly assembled ligands targeting the RNAs that cause the myotonic dystrophies The four Zn fingers of MBNL1 provide a flexible platform for recognition of its RNA binding elements.Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer.Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.The structural basis of myotonic dystrophy from the crystal structure of CUG repeats Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching.Alternative splicing produces structural and functional changes in CUGBP2.MBNL proteins and their target RNAs, interaction and splicing regulation.Dystrophia myotonia: why focus on foci?RNA splicing is responsive to MBNL1 dose Identification of MBNL1 and MBNL3 domains required for splicing activation and repression.Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules.Targeting the r(CGG) repeats that cause FXTAS with modularly assembled small molecules and oligonucleotides Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

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P2860

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

http://www.wikidata.org/entity/Q28293693

description

2005 nî lūn-bûn

@nan

2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

@zh-mo

2005年論文

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2005年论文

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name

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@ast

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@en

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@nl

type

label

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@ast

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@en

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@nl

prefLabel

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@ast

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@en

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@nl

P1433

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P1433

Journal of Biological Chemistry

P1476

MBNL1 is the primary determina ...... sulin receptor splicing in DM1

@en

P2093

Lucio Comai

http://www.w3.org/2001/XMLSchema#string

Sharan Paul

http://www.w3.org/2001/XMLSchema#string

Sita Reddy

http://www.w3.org/2001/XMLSchema#string

Warunee Dansithong

http://www.w3.org/2001/XMLSchema#string

P2860

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

Muscleblind proteins regulate alternative splicing

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

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

Mechanisms of alternative pre-messenger RNA splicing

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

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

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

A muscleblind knockout model for myotonic dystrophy

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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5773-80

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scholarly article

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3023641

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P356

10.1074/JBC.M410781200

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7

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280

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8180000

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15546872

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