Published in Hum Mol Genet on April 20, 2005
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell (2007) 3.26
Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A (2006) 3.09
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet (2006) 2.86
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. Proc Natl Acad Sci U S A (2010) 2.65
The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy. J Biol Chem (2008) 2.60
MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA (2007) 2.58
RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet (2009) 2.45
Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans (2009) 2.32
Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23
Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proc Natl Acad Sci U S A (2009) 2.21
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest (2007) 2.14
Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum Mol Genet (2011) 2.05
The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proc Natl Acad Sci U S A (2005) 1.96
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A (2008) 1.94
Targeting RNA to treat neuromuscular disease. Nat Rev Drug Discov (2011) 1.89
Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. EMBO J (2006) 1.80
CUG-BP binds to RNA substrates and recruits PARN deadenylase. RNA (2006) 1.78
CUG-BP1/CELF1 requires UGU-rich sequences for high-affinity binding. Biochem J (2006) 1.73
Structural insights into RNA recognition by the alternate-splicing regulator CUG-binding protein 1. Structure (2010) 1.67
The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins. Wiley Interdiscip Rev RNA (2011) 1.54
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet (2010) 1.44
Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy. Mol Cell Biol (2005) 1.35
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. Hum Mol Genet (2010) 1.35
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay. Sci Rep (2012) 1.35
Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. Exp Cell Res (2008) 1.23
Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control (2009) 1.22
PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest (2009) 1.19
Posttranscriptional regulation of gene networks by GU-rich elements and CELF proteins. RNA Biol (2008) 1.18
Developments in RNA splicing and disease. Cold Spring Harb Perspect Biol (2011) 1.18
Therapeutic advances in muscular dystrophy. Ann Neurol (2013) 1.17
Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol (2006) 1.16
Long tract of untranslated CAG repeats is deleterious in transgenic mice. PLoS One (2011) 1.16
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res (2009) 1.13
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol (2009) 1.12
RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res (2012) 1.11
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. FASEB J (2010) 1.09
The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing. J Cell Biol (2012) 1.09
Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms. Curr Genomics (2010) 1.07
Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med (2011) 1.07
RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci (2012) 1.07
Analysis of splicing patterns by pyrosequencing. Nucleic Acids Res (2009) 1.04
The impact of alternative splicing in vivo: mouse models show the way. RNA (2007) 1.03
Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features. PLoS One (2008) 1.01
Coordinate regulation of mRNA decay networks by GU-rich elements and CELF1. Curr Opin Genet Dev (2011) 0.99
Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. Dis Model Mech (2009) 0.97
CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders. RNA Biol (2011) 0.97
Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum Mol Genet (2012) 0.95
Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1. Acta Histochem Cytochem (2010) 0.94
Molecular mechanisms of muscle atrophy in myotonic dystrophies. Int J Biochem Cell Biol (2013) 0.91
Epigenetic changes and non-coding expanded repeats. Neurobiol Dis (2010) 0.91
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. Am J Pathol (2011) 0.91
Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs. Hum Mol Genet (2011) 0.90
The neurofibromatosis type I pre-mRNA is a novel target of CELF protein-mediated splicing regulation. Nucleic Acids Res (2009) 0.89
Spatially restricted translation of the xCR1 mRNA in Xenopus embryos. Mol Cell Biol (2009) 0.87
CELFish ways to modulate mRNA decay. Biochim Biophys Acta (2013) 0.87
RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP. EMBO Rep (2011) 0.87
Gene expression analyses implicate an alternative splicing program in regulating contractile gene expression and serum response factor activity in mice. PLoS One (2013) 0.87
Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity. Hum Mol Genet (2013) 0.87
Expression of a dominant negative CELF protein in vivo leads to altered muscle organization, fiber size, and subtype. PLoS One (2011) 0.86
Dystrophia myotonia: why focus on foci? Eur J Hum Genet (2009) 0.85
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model. Dis Model Mech (2012) 0.85
HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1. Curr Chem Genomics (2010) 0.85
RNA binding proteins in the regulation of heart development. Int J Biochem Cell Biol (2013) 0.84
Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules. BMC Res Notes (2011) 0.84
Smaug/SAMD4A restores translational activity of CUGBP1 and suppresses CUG-induced myopathy. PLoS Genet (2013) 0.83
The perinucleolar compartment. Cold Spring Harb Perspect Biol (2010) 0.83
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2. PLoS One (2013) 0.82
Repression of nuclear CELF activity can rescue CELF-regulated alternative splicing defects in skeletal muscle models of myotonic dystrophy. PLoS Curr (2012) 0.82
CUG-binding protein 1 regulates HSC activation and liver fibrogenesis. Nat Commun (2016) 0.81
Molecular mechanisms in DM1 - a focus on foci. Nucleic Acids Res (2015) 0.81
Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1. RNA Biol (2014) 0.81
Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy. Hum Mol Genet (2015) 0.80
Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier. PLoS Genet (2016) 0.78
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscul Disord (2013) 0.78
RNA-binding protein CELF1 promotes tumor growth and alters gene expression in oral squamous cell carcinoma. Oncotarget (2015) 0.77
Gene Expression Analyses during Spontaneous Reversal of Cardiomyopathy in Mice with Repressed Nuclear CUG-BP, Elav-Like Family (CELF) Activity in Heart Muscle. PLoS One (2015) 0.77
Myotonic dystrophy protein kinase is critical for nuclear envelope integrity. J Biol Chem (2011) 0.77
Identification of Targets of CUG-BP, Elav-Like Family Member 1 (CELF1) Regulation in Embryonic Heart Muscle. PLoS One (2016) 0.76
Bcl-x pre-mRNA splicing regulates brain injury after neonatal hypoxia-ischemia. J Neurosci (2012) 0.76
CUG-BP, Elav-like family member 1 (CELF1) is required for normal myofibrillogenesis, morphogenesis, and contractile function in the embryonic heart. Dev Dyn (2016) 0.75
Disease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein Kinase Cβ. PLoS One (2016) 0.75
The CELF1 RNA-Binding Protein Regulates Decay of Signal Recognition Particle mRNAs and Limits Secretion in Mouse Myoblasts. PLoS One (2017) 0.75
Transcriptome complexity in cardiac development and diseases--an expanding universe between genome and phenome. Circ J (2014) 0.75
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. Eur J Hum Genet (2016) 0.75
The perinucleolar compartment associates with malignancy. Front Biol (Beijing) (2013) 0.75
Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice. Mol Ther Nucleic Acids (2017) 0.75
Pre-mRNA splicing and human disease. Genes Dev (2003) 9.13
Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet (2007) 7.42
Finding signals that regulate alternative splicing in the post-genomic era. Genome Biol (2002) 4.73
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet (2004) 4.45
RNA-mediated neuromuscular disorders. Annu Rev Neurosci (2006) 4.24
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell (2002) 4.05
Muscleblind proteins regulate alternative splicing. EMBO J (2004) 4.01
Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines. Nat Genet (2008) 3.78
Redundant pathways for negative feedback regulation of bile acid production. Dev Cell (2002) 3.51
The pINDUCER lentiviral toolkit for inducible RNA interference in vitro and in vivo. Proc Natl Acad Sci U S A (2011) 3.40
A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci U S A (2008) 3.33
Functional consequences of developmentally regulated alternative splicing. Nat Rev Genet (2011) 3.27
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell (2007) 3.26
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet (2002) 3.12
The pathobiology of splicing. J Pathol (2010) 2.52
Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans (2009) 2.32
Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci (2005) 2.31
Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing. Mol Cell (2002) 2.27
Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest (2007) 2.14
Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment. Mol Cell Biol (2005) 2.03
A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron (2002) 1.97
Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development. Dev Dyn (2005) 1.95
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A (2008) 1.94
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet (2006) 1.77
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. Neurobiol Dis (2009) 1.66
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron (2003) 1.64
Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein. RNA (2003) 1.47
Activation of mammalian target of rapamycin in cytomegalic neurons of human cortical dysplasia. Ann Neurol (2006) 1.46
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? EMBO J (2007) 1.44
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet (2010) 1.44
CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. J Biol Chem (2004) 1.43
RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci U S A (2012) 1.40
Global regulation of alternative splicing during myogenic differentiation. Nucleic Acids Res (2010) 1.39
Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy. Mol Cell Biol (2005) 1.35
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. Hum Mol Genet (2010) 1.35
The role of mitochondrial porins and the permeability transition pore in learning and synaptic plasticity. J Biol Chem (2002) 1.31
Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing. Biotechniques (2006) 1.30
A bichromatic fluorescent reporter for cell-based screens of alternative splicing. Nucleic Acids Res (2006) 1.26
Sudden death, febrile seizures, and hippocampal and temporal lobe maldevelopment in toddlers: a new entity. Pediatr Dev Pathol (2010) 1.26
Alternative splicing in disease. Adv Exp Med Biol (2007) 1.22
MicroRNAs coordinate an alternative splicing network during mouse postnatal heart development. Genes Dev (2010) 1.22
Identification of MBNL1 and MBNL3 domains required for splicing activation and repression. Nucleic Acids Res (2010) 1.20
PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest (2009) 1.19
Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol (2006) 1.16
ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. Nucleic Acids Res (2004) 1.16
Identification of CELF splicing activation and repression domains in vivo. Nucleic Acids Res (2005) 1.12
Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events. J Cell Sci (2004) 1.11
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Hum Mol Genet (2007) 1.11
RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res (2012) 1.11
Expression analysis of juvenile pilocytic astrocytomas by oligonucleotide microarray reveals two potential subgroups. Cancer Res (2005) 1.09
Alternative splicing dysregulation secondary to skeletal muscle regeneration. Ann Neurol (2011) 1.09
Sudden death in toddlers associated with developmental abnormalities of the hippocampus: a report of five cases. Pediatr Dev Pathol (2007) 1.08
Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med (2011) 1.07
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A (2006) 1.06
Dual pathology in Rasmussen's encephalitis: a study of seven cases and review of the literature. Neuropathology (2009) 1.02
Schimke immuno-osseous dysplasia: a cell autonomous disorder? Am J Med Genet A (2006) 1.02
CUGBP2 directly interacts with U2 17S snRNP components and promotes U2 snRNA binding to cardiac troponin T pre-mRNA. Nucleic Acids Res (2009) 0.97
Reelin and disabled-1 expression in developing and mature human cortical neurons. J Neuropathol Exp Neurol (2003) 0.97
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol (2008) 0.96
Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy. Acta Neuropathol (2001) 0.96
Quasi-normal cornified cell envelopes in loricrin knockout mice imply the existence of a loricrin backup system. J Invest Dermatol (2002) 0.94
Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy. Proc Natl Acad Sci U S A (2013) 0.92
Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior. Hum Mol Genet (2006) 0.91
Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet (2006) 0.91
Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. Hum Mol Genet (2007) 0.90
Myotonic dystrophy: discussion of molecular basis. Adv Exp Med Biol (2002) 0.85
Muscleblind-like 1 activates insulin receptor exon 11 inclusion by enhancing U2AF65 binding and splicing of the upstream intron. Nucleic Acids Res (2013) 0.84
Evidence of increased cell proliferation in the hippocampus in children with Ammon's horn sclerosis. Pathol Int (2007) 0.83
VDAC3 has differing mitochondrial functions in two types of striated muscles. Biochim Biophys Acta (2010) 0.82
Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy. Hum Gene Ther (2013) 0.80
RNA-binding proteins in heart development. Adv Exp Med Biol (2014) 0.78
Micromanaging alternative splicing during muscle differentiation. Dev Cell (2007) 0.78
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. BMC Pediatr (2002) 0.77
Regulating mRNA complexity in the mammalian brain. Nat Genet (2011) 0.75
In Brief: (mis)splicing in disease. J Pathol (2014) 0.75
Regulation of chloride ion conductance during skeletal muscle development and in disease. Focus on "Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1". Am J Physiol Cell Physiol (2007) 0.75
BNA(NC) gapmers revert splicing and reduce RNA foci with low toxicity in myotonic dystrophy cells. ACS Chem Biol (2017) 0.75
International Anesthesia Research Society Annual Meeting: then & now. Anesth Analg (2012) 0.75