Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.
about
A family of human RNA-binding proteins related to the Drosophila Bruno translational regulatorRecruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophyThe CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicingMuscleblind proteins regulate alternative splicingMBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinaseThe fragile-X premutation: a maturing perspective.Molecular basis for impaired muscle differentiation in myotonic dystrophyIn vivo co-localisation of MBNL protein with DMPK expanded-repeat transcriptsAltered ribostasis: RNA-protein granules in degenerative disordersThe pathobiology of splicingComparative genomics and molecular dynamics of DNA repeats in eukaryotesAltered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout miceDefining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSAlternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicityDevelopment of an AP-FRET based analysis for characterizing RNA-protein interactions in myotonic dystrophy (DM1)New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeatsReversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Studies of FRAXA and FRAXE in women with premature ovarian failure.Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects.RNA metabolism in neurodegenerative disease.Intracellular Distribution and Nuclear Activity of Antisense Oligonucleotides After Unassisted Uptake in Myoblasts and Differentiated Myotubes In Vitro.Long tract of untranslated CAG repeats is deleterious in transgenic miceDMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model.Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.Triplet repeat expansion in neuromuscular disease.Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules.The structural basis of myotonic dystrophy from the crystal structure of CUG repeatsThe splice of life: alternative splicing and neurological disease.Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization.Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation.RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1
P2860
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P2860
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Expansion of a CUG trinucleoti ...... lear retention of transcripts.
@ast
Expansion of a CUG trinucleoti ...... lear retention of transcripts.
@en
type
label
Expansion of a CUG trinucleoti ...... lear retention of transcripts.
@ast
Expansion of a CUG trinucleoti ...... lear retention of transcripts.
@en
prefLabel
Expansion of a CUG trinucleoti ...... lear retention of transcripts.
@ast
Expansion of a CUG trinucleoti ...... lear retention of transcripts.
@en
P2093
P2860
P356
P1476
Expansion of a CUG trinucleoti ...... lear retention of transcripts.
@en
P2093
D E Housman
K L Taneja
M E McCurrach
R H Singer
P2860
P304
P356
10.1073/PNAS.94.14.7388
P407
P577
1997-07-01T00:00:00Z