| scholarly article | Q13442814 |
| P356 | DOI | 10.1126/SCIENCE.280.5364.737 |
| P698 | PubMed publication ID | 9563950 |
| P2093 | author name string | Cooper TA | |
| Timchenko LT | |||
| Philips AV | |||
| P433 | issue | 5364 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 737-741 | |
| P577 | publication date | 1998-05-01 | |
| P1433 | published in | Science | Q192864 |
| P1476 | title | Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy | |
| P478 | volume | 280 |
| Q38721747 | (CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis. |
| Q40971215 | (CTG)n repeats markedly inhibit differentiation of the C2C12 myoblast cell line: implications for congenital myotonic dystrophy |
| Q47194897 | 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. |
| Q90389133 | A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels |
| Q37358384 | A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in a Drosophila Model of Myotonic Dystrophy. |
| Q24315754 | A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 |
| Q22254606 | A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator |
| Q64077608 | A novel evolutionary conserved mechanism of RNA stability regulates synexpression of primordial germ cell-specific genes prior to the sex-determination stage in medaka |
| Q48574093 | A novel role for Celf1 in vegetal RNA localization during Xenopus oogenesis |
| Q28593731 | A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart |
| Q34403150 | A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome |
| Q34291033 | A splicing silencer that regulates smooth muscle specific alternative splicing is active in multiple cell types |
| Q41083752 | A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction. |
| Q34147123 | A web-accessible complete transcriptome of normal human and DMD muscle |
| Q38939914 | ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1. |
| Q92827366 | AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1 |
| Q74441599 | Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy |
| Q42437310 | Abnormal contractile activity and calcium cycling in cardiac myocytes isolated from DMPK knockout mice |
| Q30653577 | Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy |
| Q36405529 | Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models. |
| Q38330480 | Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. |
| Q97565922 | Adult-Onset Myopathy with Constitutive Activation of Akt following the Loss of hnRNP-U |
| Q30417185 | Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1). |
| Q37331263 | Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice |
| Q52654324 | Altered nuclear structure in myotonic dystrophy type 1-derived fibroblasts. |
| Q33953763 | Alternative RNA splicing in the nervous system |
| Q36334941 | Alternative pre-mRNA splicing in the human system: unexpected role of repetitive sequences as regulatory elements |
| Q29615087 | Alternative pre-mRNA splicing: the logic of combinatorial control |
| Q36599506 | Alternative splicing and muscular dystrophy. |
| Q34219488 | Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization |
| Q64449712 | Alternative splicing in cardiomyopathy |
| Q34716334 | Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2. |
| Q28244232 | Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1 |
| Q34203482 | Alternative splicing produces structural and functional changes in CUGBP2. |
| Q33600984 | Alternative splicing regulates vesicular trafficking genes in cardiomyocytes during postnatal heart development |
| Q34586931 | Alternative splicing: multiple control mechanisms and involvement in human disease |
| Q34328763 | An analysis of the sequence requirements of EDEN-BP for specific RNA binding |
| Q47224795 | An engineered RNA binding protein with improved splicing regulation |
| Q74132076 | An intronic downstream enhancer promotes 3' splice site usage of a neural cell-specific exon |
| Q33857850 | An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) |
| Q42946576 | Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). |
| Q24633252 | Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients |
| Q43207063 | Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein |
| Q35664126 | Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins |
| Q36848720 | Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy. |
| Q101559243 | Application of CRISPR-Cas9-Mediated Genome Editing for the Treatment of Myotonic Dystrophy Type 1 |
| Q34262628 | Arrest is a regulator of fiber-specific alternative splicing in the indirect flight muscles of Drosophila |
| Q24793697 | Assembly of splicing complexes on exon 11 of the human insulin receptor gene does not correlate with splicing efficiency in-vitro |
| Q51978995 | Association between idiopathic premature ovarian failure and fragile X premutation. |
| Q33557647 | Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript |
| Q36351445 | Bcl-x pre-mRNA splicing regulates brain injury after neonatal hypoxia-ischemia |
| Q34542422 | Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. |
| Q37038917 | Bidirectional transcription of trinucleotide repeats: roles for excision repair |
| Q30377390 | Biological Efficacy and Toxicity of Diamidines in Myotonic Dystrophy Type 1 Models. |
| Q38177257 | Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy |
| Q55322911 | Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1. |
| Q37877092 | CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders |
| Q35926149 | CDK13, a Kinase Involved in Pre-mRNA Splicing, Is a Component of the Perinucleolar Compartment |
| Q39680229 | CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3. |
| Q100946066 | CELF2 regulates the species-specific alternative splicing of TREM2 |
| Q24307363 | CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing |
| Q92314703 | CRISPR/Cas9 Screens Reveal Multiple Layers of B cell CD40 Regulation |
| Q24548885 | CUG repeat binding protein (CUGBP1) interacts with the 5' region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms |
| Q24544335 | CUG-BP binds to RNA substrates and recruits PARN deadenylase |
| Q41961794 | CUG-BP, Elav-like family member 1 (CELF1) is required for normal myofibrillogenesis, morphogenesis, and contractile function in the embryonic heart |
| Q36245773 | CUG-BP1 regulates RyR1 ASI alternative splicing in skeletal muscle atrophy |
| Q24682365 | CUG-BP1/CELF1 requires UGU-rich sequences for high-affinity binding |
| Q37427714 | CUG-binding protein 1 regulates HSC activation and liver fibrogenesis |
| Q38327492 | CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay |
| Q24307364 | Calreticulin interacts with C/EBPalpha and C/EBPbeta mRNAs and represses translation of C/EBP proteins |
| Q39010745 | Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies? |
| Q35121604 | Cardiac Complications of Childhood Myopathies |
| Q33884161 | Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy. |
| Q36509063 | Cell-free cloning of highly expanded CTG repeats by amplification of dimerized expanded repeats |
| Q55100992 | Cells of Matter-In Vitro Models for Myotonic Dystrophy. |
| Q37897768 | Cellular toxicity of expanded RNA repeats: focus on RNA foci |
| Q35791378 | Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy |
| Q28082428 | Channelopathies of skeletal muscle excitability |
| Q52547985 | Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. |
| Q41055497 | Chloride channel dysfunction study in myotonic dystrophy type 1 using repeated short exercise tests. |
| Q36334458 | ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. |
| Q74578232 | Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2) |
| Q38209927 | Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies |
| Q51982671 | Cloning and embryonic expression patterns of the chicken CELF family. |
| Q43806446 | Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy. |
| Q93110898 | Combination Treatment of Erythromycin and Furamidine Provides Additive and Synergistic Rescue of Mis-Splicing in Myotonic Dystrophy Type 1 Models |
| Q41768489 | Combinatorial mutagenesis of MBNL1 zinc fingers elucidates distinct classes of regulatory events |
| Q24650948 | Comparative genomics and molecular dynamics of DNA repeats in eukaryotes |
| Q43506355 | Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2). |
| Q33293169 | Complex seizure disorder caused by Brunol4 deficiency in mice |
| Q37557193 | Compound loss of muscleblind-like function in myotonic dystrophy |
| Q33938809 | Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing |
| Q26777206 | Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions |
| Q37619548 | Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias |
| Q37294902 | Conservation of context-dependent splicing activity in distant Muscleblind homologs |
| Q24646793 | Conserved GU-rich elements mediate mRNA decay by binding to CUG-binding protein 1 |
| Q28572856 | Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB |
| Q24679378 | Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy |
| Q92255896 | Correction of RNA-Binding Protein CUGBP1 and GSK3β Signaling as Therapeutic Approach for Congenital and Adult Myotonic Dystrophy Type 1 |
| Q28204030 | Coupled mRNA stabilization and translational silencing of cyclooxygenase-2 by a novel RNA binding protein, CUGBP2 |
| Q30855205 | Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features |
| Q41002587 | DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1. |
| Q33842956 | DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model |
| Q74609017 | Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts |
| Q24682706 | Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains |
| Q36220972 | Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins. |
| Q34149072 | Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching |
| Q36407860 | Detection of alternative splicing during epithelial-mesenchymal transition |
| Q41997886 | Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1. |
| Q30413238 | Development of an AP-FRET based analysis for characterizing RNA-protein interactions in myotonic dystrophy (DM1) |
| Q38434922 | Development of pharmacophore models for small molecules targeting RNA: Application to the RNA repeat expansion in myotonic dystrophy type 1. |
| Q38287631 | Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics |
| Q47131660 | Developmentally regulated alternative splicing is perturbed in type 1 diabetic skeletal muscle |
| Q28145956 | Developmentally-regulated expression of mNapor encoding an apoptosis-induced ELAV-type RNA binding protein |
| Q34349806 | Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. |
| Q36277192 | Diseases of unstable repeat expansion: mechanisms and common principles |
| Q60950065 | Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Models of Myotonic Dystrophy Type 1 |
| Q64066391 | Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes |
| Q38586911 | Diverse regulation of 3' splice site usage |
| Q52671372 | Diversification of the muscle proteome through alternative splicing. |
| Q41643458 | Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice |
| Q34252137 | 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 |
| Q34699401 | Dominantly inherited, non-coding microsatellite expansion disorders |
| Q92096984 | Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 |
| Q37713198 | Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases |
| Q28505354 | Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development |
| Q64253795 | Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1 |
| Q38257886 | Dysregulation of calcium homeostasis in muscular dystrophies. |
| Q37444939 | Dysregulation of mRNA Localization and Translation in Genetic Disease |
| Q34326165 | Dystrophia myotonia: why focus on foci? |
| Q43115525 | EMBO Workshop Report: Molecular genetics of muscle development and neuromuscular diseases Kloster Irsee, Germany, September 26-October 1, 1999. |
| Q73168300 | ETR-1, a homologue of a protein linked to myotonic dystrophy, is essential for muscle development in Caenorhabditis elegans |
| Q24633700 | ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo |
| Q39969644 | Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. |
| Q24670706 | Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy |
| Q38122142 | Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction |
| Q47252604 | Emerging roles of RNA-binding proteins in diabetes and their therapeutic potential in diabetic complications. |
| Q28205048 | Emerin interacts in vitro with the splicing-associated factor, YT521-B |
| Q29010925 | Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways |
| Q90058443 | Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1 |
| Q37695480 | Epigenetic changes and non-coding expanded repeats |
| Q30408570 | Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity |
| Q77058046 | Evolution of simple repeats in DNA and their relation to human disease |
| Q48114327 | Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). |
| Q38291314 | Exon skipping in cardiac troponin T of turkeys with inherited dilated cardiomyopathy |
| Q34361795 | Exonic splicing enhancers contribute to the use of both 3' and 5' splice site usage of rat beta-tropomyosin pre-mRNA |
| Q36854284 | Expandable DNA repeats and human disease. |
| Q40714167 | Expanded CTG repeats inhibit neuronal differentiation of the PC12 cell line |
| Q30441256 | Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy |
| Q34362347 | Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR |
| Q35515640 | Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex. |
| Q34142078 | Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy |
| Q34378929 | Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells |
| Q39584664 | Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation |
| Q34216271 | Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice |
| Q37278485 | Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients |
| Q33889257 | Expression of a dominant negative CELF protein in vivo leads to altered muscle organization, fiber size, and subtype. |
| Q34141674 | FMR1 gene and fragile X syndrome |
| Q24337657 | Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy |
| Q34986416 | Features of modularly assembled compounds that impart bioactivity against an RNA target |
| Q52009207 | Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. |
| Q34729091 | Fragile X and other trinucleotide repeat diseases |
| Q38335759 | Functional roles of alternative splicing factors in human disease |
| Q37590296 | GSK3β is a new therapeutic target for myotonic dystrophy type 1. |
| Q36498042 | GSK3β mediates muscle pathology in myotonic dystrophy |
| Q35498022 | Gene Expression Analyses during Spontaneous Reversal of Cardiomyopathy in Mice with Repressed Nuclear CUG-BP, Elav-Like Family (CELF) Activity in Heart Muscle |
| Q38299079 | Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. |
| Q28472129 | Genetic and chemical modifiers of a CUG toxicity model in Drosophila |
| Q36022223 | Genetics and molecular pathogenesis of the myotonic dystrophies |
| Q93114664 | Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice |
| Q41092886 | Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy |
| Q92712654 | Global Increase in Circular RNA Levels in Myotonic Dystrophy |
| Q35578540 | Global assessment of GU-rich regulatory content and function in the human transcriptome |
| Q39700299 | HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1. |
| Q44420167 | Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts |
| Q33697703 | Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. |
| Q42798030 | Heterogeneous ribonucleoprotein A1 is part of an exon-specific splice-silencing complex controlled by oncogenic signaling pathways |
| Q28585557 | Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts |
| Q33836050 | High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany |
| Q35030106 | 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 |
| Q50686246 | Highlights of alternative splicing regulation session: yes, no, maybe--a history of paradigm shifts. |
| Q24812815 | HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence |
| Q24672773 | Human sat III and Drosophila hsr omega transcripts: a common paradigm for regulation of nuclear RNA processing in stressed cells |
| Q38855284 | Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes |
| Q30360551 | Hypogonadism Associated with Cyp19a1 (Aromatase) Posttranscriptional Upregulation in Celf1 Knockout Mice. |
| Q36186164 | Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1. |
| Q24527266 | Identification of CELF splicing activation and repression domains in vivo |
| Q24641949 | Identification of CUG-BP1/EDEN-BP target mRNAs in Xenopus tropicalis |
| Q34779359 | Identification of MBNL1 and MBNL3 domains required for splicing activation and repression |
| Q36051366 | Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type I |
| Q35920624 | Identification of Targets of CUG-BP, Elav-Like Family Member 1 (CELF1) Regulation in Embryonic Heart Muscle |
| Q33966379 | Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. |
| Q40890952 | Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment |
| Q36040949 | Identification of transcripts regulated by CUG-BP, Elav-like family member 1 (CELF1) in primary embryonic cardiomyocytes by RNA-seq |
| Q28115791 | Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype |
| Q33588075 | Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds. |
| Q47604870 | Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9. |
| Q36088618 | In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats |
| Q36928108 | In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin |
| Q36392989 | In silico discovery of substituted pyrido[2,3-d]pyrimidines and pentamidine-like compounds with biological activity in myotonic dystrophy models. |
| Q24555640 | In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts |
| Q35802850 | Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model. |
| Q36154872 | Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation |
| Q34786164 | Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. |
| Q28236888 | Inherited conduction system abnormalities--one group of diseases, many genes |
| Q42696032 | Inhibition of CUG-binding protein 1 and activation of caspases are critically involved in piperazine derivative BK10007S induced apoptosis in hepatocellular carcinoma cells |
| Q59798959 | Insulin Receptor Isoforms in Cancer |
| Q33910364 | Insulin receptor splicing alteration in myotonic dystrophy type 2. |
| Q24301335 | Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing |
| Q93039359 | Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1 |
| Q41888176 | Kinetics of FcRn-mediated recycling of IgG and albumin in human: pathophysiology and therapeutic implications using a simplified mechanism-based model |
| Q33511369 | Large introns in relation to alternative splicing and gene evolution: a case study of Drosophila bruno-3 |
| Q34930681 | Long CTG Tracts from the Myotonic Dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells |
| Q33808904 | Long tract of untranslated CAG repeats is deleterious in transgenic mice |
| Q34142085 | Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing |
| Q24311381 | MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 |
| Q40189215 | MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. |
| Q52668446 | MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. |
| Q33783196 | MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing |
| Q28293693 | MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 |
| Q41900237 | MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases |
| Q52594964 | Male sterility associated with overexpression of the noncoding hsromega gene in cyst cells of testis of Drosophila melanogaster. |
| Q88712420 | Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1 |
| Q30830825 | Mechanistic determinants of MBNL activity |
| Q28504484 | Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy |
| Q39533985 | Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. |
| Q36640173 | Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. |
| Q84391956 | Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy |
| Q92703084 | Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules |
| Q51733210 | Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes. |
| Q34489742 | Modifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in a myotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model. |
| Q64039323 | Modulating RNA secondary and tertiary structures by mismatch binding ligands |
| Q41560194 | Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene |
| Q24548314 | Molecular basis for impaired muscle differentiation in myotonic dystrophy |
| Q34614055 | Molecular characterization of the mouse In(10)17Rk inversion and identification of a novel muscle-specific gene at the proximal breakpoint |
| Q38326275 | Molecular mechanisms in DM1 - a focus on foci. |
| Q37138514 | Molecular mechanisms of muscle atrophy in myotonic dystrophies |
| Q35578251 | Molecular regulation, evolutionary, and functional adaptations associated with C to U editing of mammalian apolipoproteinB mRNA. |
| Q37734660 | Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function |
| Q44487201 | Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions. |
| Q37619968 | Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies |
| Q34356102 | Multifunctional regulatory proteins that control gene expression in both the nucleus and the cytoplasm |
| Q38329774 | Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel |
| Q47229983 | Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20. |
| Q33775147 | Muscle-specific splicing of a heterologous exon mediated by a single muscle-specific splicing enhancer from the cardiac troponin T gene |
| Q85042543 | Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans |
| Q24299521 | Muscleblind proteins regulate alternative splicing |
| Q34055812 | Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer |
| Q33548657 | Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy |
| Q36323744 | Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD. |
| Q78024516 | Mutation in neurofilament transgene implicates RNA processing in the pathogenesis of neurodegenerative disease |
| Q34073069 | Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules |
| Q35633172 | Myogenic defects in myotonic dystrophy |
| Q57812794 | Myotonic Dystrophies: Targeting Therapies for Multisystem Disease |
| Q39003493 | Myotonic Dystrophy Type 1 Management and Therapeutics |
| Q27674953 | Myotonic Dystrophy Type 1 RNA Crystal Structures Reveal Heterogeneous 1 × 1 Nucleotide UU Internal Loop Conformations |
| Q39012035 | Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism |
| Q88453318 | Myotonic Dystrophy and Developmental Regulation of RNA Processing |
| Q33867667 | Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms. |
| Q87411199 | Myotonic dystrophy |
| Q37434343 | Myotonic dystrophy mouse models: towards rational therapy development. |
| Q35926958 | Myotonic dystrophy type 2 and related myotonic disorders |
| Q34446614 | Myotonic dystrophy--a multigene disorder. |
| Q35738537 | Myotonic dystrophy: RNA pathogenesis comes into focus |
| Q34778128 | Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. |
| Q26830455 | Myotonic dystrophy: is a narrow focus obscuring the rest of the field? |
| Q34068475 | Myotonic dystrophy: the role of RNA CUG triplet repeats |
| Q74057903 | Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios |
| Q37329544 | Myotonic dystrophy: therapeutic strategies for the future |
| Q36638284 | Neurodegeneration the RNA way |
| Q30427374 | New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats |
| Q92740840 | New myotonic dystrophy type 1 mouse model |
| Q33565443 | Next-generation sequencing: from understanding biology to personalized medicine |
| Q36565789 | Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies. |
| Q33933843 | Nuclear proteins and cell death in inherited neuromuscular disease |
| Q37035094 | Nucleocytoplasmic traffic of CPEB1 and accumulation in Crm1 nucleolar bodies |
| Q37867701 | Opportunities and challenges for the development of antisense treatment in neuromuscular disorders |
| Q73026520 | Overexpression of myotonic dystrophy protein kinase in C2C12 myogenic culture involved in the expression of ferritin heavy chain and interleukin-1alpha mRNAs |
| Q30492100 | PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. |
| Q78766771 | PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype |
| Q37569144 | Pathogenic RNAs in microsatellite expansion disease |
| Q37414636 | Pathogenic mechanisms of myotonic dystrophy |
| Q37413602 | Pentamidine reverses the splicing defects associated with myotonic dystrophy. |
| Q37831858 | Perspectives on gene therapy in myotonic dystrophy type 1. |
| Q36275061 | Polypyrimidine track-binding protein binding downstream of caspase-2 alternative exon 9 represses its inclusion |
| Q37097621 | Posttranscriptional regulation of gene networks by GU-rich elements and CELF proteins |
| Q37225291 | Posttranscriptional regulation of insulin family ligands and receptors |
| Q38028093 | Pre-mRNA splicing in disease and therapeutics |
| Q34388858 | Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population |
| Q37609948 | Progress in therapeutic antisense applications for neuromuscular disorders |
| Q37078868 | Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice. |
| Q42046759 | Purification, crystallization and preliminary crystallographic studies of C-terminal RNA recognition motif (RRM-3) of human ELAV-type RNA-binding protein 3 (ETR-3). |
| Q24657442 | RETRACTED: Alternative splicing produces high levels of noncoding isoforms of bHLH transcription factors during development |
| Q28140822 | RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1 |
| Q35474587 | 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 |
| Q35868044 | RNA Structures as Mediators of Neurological Diseases and as Drug Targets |
| Q42540147 | RNA binding specificity of Drosophila muscleblind |
| Q30661669 | RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish |
| Q34542108 | RNA structure of trinucleotide repeats associated with human neurological diseases |
| Q37385250 | RNA surveillance: molecular approaches in transcript quality control and their implications in clinical diseases |
| Q36859984 | RNA toxicity in polyglutamine disorders: concepts, models, and progress of research |
| Q38928719 | RNA toxicity induced by expanded CAG repeats in Huntington's disease |
| Q28278448 | RNA toxicity is a component of ataxin-3 degeneration in Drosophila |
| Q29395966 | RNA-Binding Protein AUF1 Promotes Myogenesis by Regulating MEF2C Expression Levels |
| Q36685461 | RNA-binding protein CELF1 promotes tumor growth and alters gene expression in oral squamous cell carcinoma |
| Q35789502 | RNA-binding protein misregulation in microsatellite expansion disorders |
| Q47569012 | RNA-binding proteins in neurodegeneration: mechanisms in aggregate |
| Q37725827 | RNA-mediated neurodegeneration in repeat expansion disorders |
| Q37216891 | RNA-mediated toxicity in neurodegenerative disease |
| Q34546187 | RNA-protein interactions that regulate pre-mRNA splicing. |
| Q34257340 | RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1 |
| Q36484500 | Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1. |
| Q37360833 | Rational design of chemical genetic probes of RNA function and lead therapeutics targeting repeating transcripts |
| Q33474085 | 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. |
| Q34158462 | Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive |
| Q24290177 | Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy |
| Q48168210 | Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. |
| Q48111900 | Redundant intronic repressors function to inhibit fibroblast growth factor receptor-1 alpha-exon recognition in glioblastoma cells |
| Q41870238 | Region-specific alternative splicing in the nervous system: implications for regulation by the RNA-binding protein NAPOR. |
| Q34098728 | Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. |
| Q43918447 | Regulation of alternative splicing of alpha-actinin transcript by Bruno-like proteins |
| Q38329417 | Regulation of the neuron-specific exon of clathrin light chain B. |
| Q37696972 | Repeat expansion disease: progress and puzzles in disease pathogenesis |
| Q47556768 | Repeat expansion diseases |
| Q37940388 | Repeat expansion diseases: when a good RNA turns bad. |
| Q33316025 | Repeat length and RNA expression level are not primary determinants in CUG expansion toxicity in Drosophila models |
| Q31053307 | Repression of nuclear CELF activity can rescue CELF-regulated alternative splicing defects in skeletal muscle models of myotonic dystrophy |
| Q34984541 | Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy |
| Q42566971 | Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1. |
| Q47610889 | Ribozymes to the rescue: repairing genetically defective mRNAs |
| Q37981785 | Role of noncoding RNAs in trinucleotide repeat neurodegenerative disorders |
| Q38772987 | Roles for RNA-binding proteins in development and disease |
| Q35550101 | SCA10 and ATTCT repeat expansion: clinical features and molecular aspects |
| Q24537431 | SRp30c is a repressor of 3' splice site utilization. |
| Q47335247 | Septin 3 gene polymorphism in Alzheimer's disease. |
| Q34364947 | Sex lethal and U2 small nuclear ribonucleoprotein auxiliary factor (U2AF65) recognize polypyrimidine tracts using multiple modes of binding |
| Q92027741 | Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy |
| Q35237068 | Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy |
| Q73850657 | Similar poly(C)-sensitive RNA-binding complexes regulate the stability of the heavy and light neurofilament mRNAs |
| Q30886191 | Simultaneous acceleration of the cell cycle and suppression of apoptosis by splice variant delta-6 of the candidate tumour suppressor LUCA-15/RBM5. |
| Q41703565 | Sleep and breathing disorders in myotonic dystrophy type 2. |
| Q48316000 | Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study. |
| Q50100221 | Small molecule alteration of RNA sequence in cells and animals |
| Q42866387 | Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1. |
| Q34699771 | Smaug/SAMD4A restores translational activity of CUGBP1 and suppresses CUG-induced myopathy |
| Q42014820 | Spatially restricted translation of the xCR1 mRNA in Xenopus embryos |
| Q24533542 | Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia |
| Q33904051 | Splicing biomarkers of disease severity in myotonic dystrophy |
| Q36796408 | Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. |
| Q35908266 | Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier |
| Q36151477 | Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I. |
| Q27665048 | Structural Insights into RNA Recognition by the Alternate-Splicing Regulator CUG-Binding Protein 1 |
| Q27646264 | Structural basis for the sequence-specific RNA-recognition mechanism of human CUG-BP1 RRM3 |
| Q27681374 | Structural dynamics of double-helical RNAs composed of CUG/CUG- and CUG/CGG-repeats |
| Q27655444 | Structural insights into CUG repeats containing the 'stretched U-U wobble': implications for myotonic dystrophy |
| Q27653016 | Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1 |
| Q38430517 | Structure and Dynamics of RNA Repeat Expansions That Cause Huntington's Disease and Myotonic Dystrophy Type 1. |
| Q35538754 | Structures of trinucleotide repeats in human transcripts and their functional implications. |
| Q28830592 | Studying a Drug-like, RNA-Focused Small Molecule Library Identifies Compounds That Inhibit RNA Toxicity in Myotonic Dystrophy |
| Q74604409 | Synthesis of long trinucleotide repeats in vitro |
| Q28396278 | Systematic analysis of cis-elements in unstable mRNAs demonstrates that CUGBP1 is a key regulator of mRNA decay in muscle cells |
| Q92228696 | Systemic Evaluation of Chimeric LNA/2'-O-Methyl Steric Blockers for Myotonic Dystrophy Type 1 Therapy |
| Q28213914 | TIA-1 and TIAR activate splicing of alternative exons with weak 5' splice sites followed by a U-rich stretch on their own pre-mRNAs |
| Q90704988 | TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2 |
| Q37778406 | Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy |
| Q34565412 | Tandem repeat distribution of gene transcripts in three plant families |
| Q37610688 | Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I. |
| Q34879217 | Targeting the r(CGG) repeats that cause FXTAS with modularly assembled small molecules and oligonucleotides |
| Q33588831 | Targeting toxic RNAs that cause myotonic dystrophy type 1 (DM1) with a bisamidinium inhibitor |
| Q33903996 | The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology? |
| Q24290741 | The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing |
| Q36262468 | The CELF1 RNA-Binding Protein Regulates Decay of Signal Recognition Particle mRNAs and Limits Secretion in Mouse Myoblasts. |
| Q47978257 | The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas |
| Q35130489 | The Drosophila Bruno paralogue Bru-3 specifically binds the EDEN translational repression element. |
| Q26781422 | The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential |
| Q38290011 | The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy |
| Q51732331 | The RNA-binding protein Celf1 post-transcriptionally regulates p27Kip1 and Dnase2b to control fiber cell nuclear degradation in lens development. |
| Q30432053 | The alternative heart: impact of alternative splicing in heart disease |
| Q36842039 | The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy |
| Q38086771 | The changing scene of amyotrophic lateral sclerosis |
| Q26823119 | The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins |
| Q37864150 | The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches |
| Q38045121 | The myotonic dystrophies: molecular, clinical, and therapeutic challenges |
| Q33566390 | The neurofibromatosis type I pre-mRNA is a novel target of CELF protein-mediated splicing regulation |
| Q28258910 | The regulatory element in the 3'-untranslated region of human papillomavirus 16 inhibits expression by binding CUG-binding protein 1 |
| Q34186276 | The splice of life: alternative splicing and neurological disease |
| Q34133251 | The structural basis of myotonic dystrophy from the crystal structure of CUG repeats |
| Q58866842 | Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles |
| Q35550055 | Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia |
| Q37147158 | Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy |
| Q37438540 | Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1. |
| Q45822517 | Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1. |
| Q90610430 | Transcriptome alterations in myotonic dystrophy skeletal muscle and heart |
| Q28286242 | Transcriptome analysis of human gastric cancer |
| Q34267388 | Transgenic mouse models for myotonic dystrophy type 1 (DM1) |
| Q37562085 | Treatment of type 1 myotonic dystrophy by engineering site-specific RNA endonucleases that target (CUG)(n) repeats |
| Q37610130 | Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy |
| Q35633648 | Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target |
| Q33936621 | Triplet repeat expansion in neuromuscular disease |
| Q27342852 | Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy |
| Q34446513 | Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis |
| Q54429227 | Two is better than one: a case of homozygous myotonic dystrophy type 1. |
| Q47069426 | UNC-39, the C. elegans homolog of the human myotonic dystrophy-associated homeodomain protein Six5, regulates cell motility and differentiation |
| Q30452003 | Ultrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice |
| Q87103531 | Untangling regulatory networks to spot drivers and modulators of cardiac disease |
| Q34432730 | Vascular smooth muscle phenotypic diversity and function |
| Q44409505 | Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions |
| Q24548860 | Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein |
| Q89029766 | WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients |
| Q34784166 | Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia |
| Q30446658 | Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3' untranslated region transcripts |
| Q34990941 | Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy. |
| Q28205105 | c-Jun ARE targets mRNA deadenylation by an EDEN-BP (embryo deadenylation element-binding protein)-dependent pathway |
| Q42127838 | mRNA nuclear export and human disease |
| Q100945813 | miR-322/-503 rescues myoblast defects in myotonic dystrophy type 1 cell model by targeting CUG repeats |
| Q92121736 | miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy |
| Q33921377 | p21(WAF1/CIP1) upregulation through the stress granule-associated protein CUGBP1 confers resistance to bortezomib-mediated apoptosis |
| Q55087601 | rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. |
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