Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy

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