Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy
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Title
Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy
Authors
Keywords
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Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 20, Issue 13, Pages 3365
Publisher
MDPI AG
Online
2019-07-10
DOI
10.3390/ijms20133365
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Note: Only part of the references are listed.- Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease
- (2019) Natalia B. Nedelsky et al. Nature Reviews Neurology
- Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
- (2019) Andrea Cortese et al. NATURE GENETICS
- Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease
- (2019) Lien Nguyen et al. Annual Review of Neuroscience
- Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
- (2019) André B.P. van Kuilenburg et al. NEW ENGLAND JOURNAL OF MEDICINE
- Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
- (2019) Yun Tian et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients
- (2018) Massimo Santoro et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
- (2018) X. Shawn Liu et al. CELL
- Reduction of Cellular Nucleic Acid Binding Protein Encoded by a Myotonic Dystrophy Type 2 Gene Causes Muscle Atrophy
- (2018) Christina Wei et al. MOLECULAR AND CELLULAR BIOLOGY
- Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
- (2018) Hiroyuki Ishiura et al. NATURE GENETICS
- MBNL splicing activity depends on RNA binding site structural context
- (2018) Katarzyna Taylor et al. NUCLEIC ACIDS RESEARCH
- Intron retention induced by microsatellite expansions as a disease biomarker
- (2018) Łukasz J. Sznajder et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- AGC kinases, mechanisms of regulation and innovative drug development
- (2018) Alejandro E. Leroux et al. SEMINARS IN CANCER BIOLOGY
- Cis - and Trans -Modifiers of Repeat Expansions: Blending Model Systems with Human Genetics
- (2018) Ryan J. McGinty et al. TRENDS IN GENETICS
- rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
- (2018) Chantal Sellier et al. Nature Communications
- Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy
- (2018) Marzena Wojciechowska et al. Scientific Reports
- Cells of Matter—In Vitro Models for Myotonic Dystrophy
- (2018) Magdalena Matloka et al. Frontiers in Neurology
- Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy
- (2018) Sandra O. Braz et al. Frontiers in Neurology
- Emerging Roles for Intermolecular RNA-RNA Interactions in RNP Assemblies
- (2018) Briana Van Treeck et al. CELL
- Repeat associated non-ATG (RAN) translation
- (2018) John Douglas Cleary et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- CRISPR‐Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias
- (2018) Paul D. Pang et al. Journal of the American Heart Association
- GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
- (2018) Amy J. LaCroix et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy
- (2017) James D. Thomas et al. GENES & DEVELOPMENT
- RNA phase transitions in repeat expansion disorders
- (2017) Ankur Jain et al. NATURE
- Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects
- (2017) Giovanni Meola et al. NEUROLOGICAL SCIENCES
- RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2
- (2017) Tao Zu et al. NEURON
- Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle
- (2017) Laura Valentina Renna et al. PLoS One
- Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inTAF1
- (2017) D. Cristopher Bragg et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- MBNL expression in autoregulatory feedback loops
- (2017) Patryk Konieczny et al. RNA Biology
- The Human CCHC-type Zinc Finger Nucleic Acid-Binding Protein Binds G-Rich Elements in Target mRNA Coding Sequences and Promotes Translation
- (2017) Daniel Benhalevy et al. Cell Reports
- The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients
- (2017) Andreas Neueder et al. Scientific Reports
- Roles for RNA-binding proteins in development and disease
- (2016) Amy E. Brinegar et al. BRAIN RESEARCH
- Dmpkgene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice
- (2016) Samuel T. Carrell et al. HUMAN MOLECULAR GENETICS
- A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle
- (2016) Anke E. E. G. Gudde et al. HUMAN MOLECULAR GENETICS
- Decoding ALS: from genes to mechanism
- (2016) J. Paul Taylor et al. NATURE
- Mechanistic determinants of MBNL activity
- (2016) Łukasz J. Sznajder et al. NUCLEIC ACIDS RESEARCH
- Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript
- (2016) Patryk Konieczny et al. NUCLEIC ACIDS RESEARCH
- Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming
- (2016) Urszula Polak et al. STEM CELLS AND DEVELOPMENT
- Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes
- (2016) Mauro S Porcel de Peralta et al. Cell Death & Disease
- Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
- (2016) Fernande Freyermuth et al. Nature Communications
- Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene
- (2016) Maitane Barasoain et al. Genes
- DNA Triplet Repeat Expansion and Mismatch Repair
- (2015) Ravi R. Iyer et al. Annual Review of Biochemistry
- Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10)
- (2015) HaJeung Park et al. BIOCHEMISTRY
- Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms
- (2015) Giovanni Meola et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Repeat DNA in genome organization and stability
- (2015) Jan Padeken et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Dynamic changes of nuclear RNA foci in proliferating DM1 cells
- (2015) Guangbin Xia et al. HISTOCHEMISTRY AND CELL BIOLOGY
- RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy
- (2015) Jintang Du et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
- (2015) Frédérique Rau et al. Nature Communications
- CUG-BP1 regulates RyR1 ASI alternative splicing in skeletal muscle atrophy
- (2015) Yinglong Tang et al. Scientific Reports
- MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain
- (2015) Marianne Goodwin et al. Cell Reports
- Mouse polyQ database: a new online resource for research using mouse models of neurodegenerative diseases
- (2015) Wojciech J. Szlachcic et al. Molecular Brain
- RNA–protein interactions in unstable microsatellite diseases
- (2014) Apoorva Mohan et al. BRAIN RESEARCH
- Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins
- (2014) Yoshihiro Kino et al. HUMAN MOLECULAR GENETICS
- Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease
- (2014) Ranjan Batra et al. MOLECULAR CELL
- circRNA Biogenesis Competes with Pre-mRNA Splicing
- (2014) Reut Ashwal-Fluss et al. MOLECULAR CELL
- 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
- (2014) Elaine deLorimier et al. NUCLEIC ACIDS RESEARCH
- DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1
- (2014) O. J. Pettersson et al. NUCLEIC ACIDS RESEARCH
- FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3
- (2014) Sofie Metsu et al. PLoS Genetics
- Structure of the Myotonic Dystrophy Type 2 RNA and Designed Small Molecules That Reduce Toxicity
- (2013) Jessica L. Childs-Disney et al. ACS Chemical Biology
- Splicing biomarkers of disease severity in myotonic dystrophy
- (2013) Masayuki Nakamori et al. ANNALS OF NEUROLOGY
- Prediction of clustered RNA-binding protein motif sites in the mammalian genome
- (2013) Chaolin Zhang et al. NUCLEIC ACIDS RESEARCH
- Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy
- (2013) Z. Gao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Chemical Correction of Pre-mRNA Splicing Defects Associated with Sequestration of Muscleblind-like 1 Protein by Expanded r(CAG)-Containing Transcripts
- (2012) Amit Kumar et al. ACS Chemical Biology
- Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins
- (2012) Eric T. Wang et al. CELL
- Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy
- (2012) Konstantinos Charizanis et al. NEURON
- A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy
- (2012) Eric D. Wieben et al. PLoS One
- CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay
- (2012) Akio Masuda et al. Scientific Reports
- Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
- (2011) Hatasu Kobayashi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The four Zn fingers of MBNL1 provide a flexible platform for recognition of its RNA binding elements
- (2011) Danielle Cass et al. BMC MOLECULAR BIOLOGY
- Cellular toxicity of expanded RNA repeats: focus on RNA foci
- (2011) Marzena Wojciechowska et al. HUMAN MOLECULAR GENETICS
- Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel
- (2011) Zhen Zhi Tang et al. HUMAN MOLECULAR GENETICS
- Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms
- (2011) Hélène Tran et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex
- (2011) Sharan Paul et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Stochastic and reversible aggregation of mRNA with expanded CUG-triplet repeats
- (2011) E. Querido et al. JOURNAL OF CELL SCIENCE
- Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
- (2011) Charlotte Fugier et al. NATURE MEDICINE
- Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
- (2011) Frédérique Rau et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
- (2011) Mariely DeJesus-Hernandez et al. NEURON
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- (2011) Alan E. Renton et al. NEURON
- New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats
- (2011) François-Xavier Laurent et al. NUCLEIC ACIDS RESEARCH
- CAG repeats mimic CUG repeats in the misregulation of alternative splicing
- (2011) Agnieszka Mykowska et al. NUCLEIC ACIDS RESEARCH
- Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2
- (2010) Olayinka Raheem et al. AMERICAN JOURNAL OF PATHOLOGY
- Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
- (2010) Chantal Sellier et al. EMBO JOURNAL
- Partners in crime: bidirectional transcription in unstable microsatellite disease
- (2010) R. Batra et al. HUMAN MOLECULAR GENETICS
- Repeat instability as the basis for human diseases and as a potential target for therapy
- (2010) Arturo López Castel et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy
- (2010) Hongqing Du et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1
- (2010) Riccardo Perbellini et al. NEUROMUSCULAR DISORDERS
- The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles
- (2010) R. Massa et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing
- (2010) Emily S. Goers et al. NUCLEIC ACIDS RESEARCH
- Non-ATG-initiated translation directed by microsatellite expansions
- (2010) T. Zu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n
- (2009) Nozomu Sato et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Expression of RNA CCUG Repeats Dysregulates Translation and Degradation of Proteins in Myotonic Dystrophy 2 Patients
- (2009) Elizabeth Salisbury et al. AMERICAN JOURNAL OF PATHOLOGY
- Reduction of the Rate of Protein Translation in Patients with Myotonic Dystrophy 2
- (2009) C. Huichalaf et al. JOURNAL OF NEUROSCIENCE
- DMPK protein isoforms are differentially expressed in myogenic and neural cell lineages
- (2009) Ralph J. A. Oude Ophuis et al. MUSCLE & NERVE
- Absence of a differentiation defect in muscle satellite cells from DM2 patients
- (2009) Richard Pelletier et al. NEUROBIOLOGY OF DISEASE
- Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA
- (2009) T. M. Wheeler et al. SCIENCE
- RNA Gain-of-Function in Spinocerebellar Ataxia Type 8
- (2009) Randy S. Daughters et al. PLoS Genetics
- Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1
- (2008) Marianna Teplova et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
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