Molecular mechanisms underlying nucleotide repeat expansion disorders

Patterns of de novo tandem repeat mutations and their role in autism

(2021) Ileena Mitra et al.   NATURE

Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging

(2021) Alexander J. Neil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptome alterations in myotonic dystrophy frontal cortex

(2021) Brittney A. Otero et al.   Cell Reports

CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome

(2021) Sefan Asamitsu et al.   Science Advances

Tandem RNA binding sites induce self-association of the stress granule marker protein TIA-1

(2021) Fionna E Loughlin et al.   NUCLEIC ACIDS RESEARCH

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases

(2021) Manon Boivin et al.   NEURON

RNA Droplets

(2020) Kevin Rhine et al.   Annual Review of Biophysics

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

(2020) Alexandra N. Khristich et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo

(2020) Masayuki Nakamori et al.   NATURE GENETICS

A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis

(2020) Caitlin M. Rodriguez et al.   NATURE NEUROSCIENCE

Finding and extending ancient simple sequence repeat-derived regions in the human genome

(2020) Jonathan A. Shortt et al.   Mobile DNA

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

(2020) Zachary T. McEachin et al.   NEURON

Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood

(2020) Łukasz J. Sznajder et al.   Nature Communications

Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated FMR1 Alleles in Fragile X Syndrome Patient Derived Cells

(2020) Daman Kumari et al.   Genes

Evolution of a Human-Specific Tandem Repeat Associated with ALS

(2020) Meredith M. Course et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

(2020) Mai Tsuchiya et al.   JOURNAL OF HUMAN GENETICS

Genome-wide detection of tandem DNA repeats that are expanded in autism

(2020) Brett Trost et al.   NATURE

Metformin inhibits RAN translation through PKR pathway and mitigates disease inC9orf72ALS/FTD mice

(2020) Tao Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

(2020) Sarah J Beecroft et al.   BRAIN

Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains

(2020) Qingqing Wang et al.   GENOME RESEARCH

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis

(2020) Yanchun Yuan et al.   NEUROLOGY

ALS Genetics: Gains, Losses, and Implications for Future Therapies

(2020) Garam Kim et al.   NEURON

Genome (in)stability at tandem repeats

(2020) Elisa Balzano et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates

(2020) Saif N. Haify et al.   Frontiers in Molecular Biosciences

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

(2020) Ramita Dewan et al.   NEURON

Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress

(2019) Thomas Westergard et al.   EMBO Molecular Medicine

C9orf72 deficiency promotes motor deficits of a C9ALS/FTD mouse model in a dose-dependent manner

(2019) Qiang Shao et al.   Acta Neuropathologica Communications

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

(2019) Yong-Jie Zhang et al.   SCIENCE

Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences

(2019) Remco T.P. van Cruchten et al.   RNA

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

Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions

(2019) Julia K. Nussbacher et al.   NEURON

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

(2019) Lindsey D. Goodman et al.   Acta Neuropathologica Communications

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

(2019) Yun Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DDX 3X and specific initiation factors modulate FMR 1 repeat‐associated non‐AUG‐initiated translation

(2019) Alexander E Linsalata et al.   EMBO REPORTS

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

(2019) Shizuka B. Yamada et al.   NATURE NEUROSCIENCE

Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR

(2019) Zongbing Hao et al.   Nature Communications

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

(2019) Patra Yeetong et al.   BRAIN

Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome

(2019) Lisa Ma et al.   Acta Neuropathologica Communications

The impact of short tandem repeat variation on gene expression

(2019) Stephanie Feupe Fotsing et al.   NATURE GENETICS

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

(2019) Mark A. Corbett et al.   Nature Communications

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

(2019) Rahel T. Florian et al.   Nature Communications

CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation

(2019) Weiwei Cheng et al.   NEURON

In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment

(2018) Qiang Guo et al.   CELL

Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene

(2018) X. Shawn Liu et al.   CELL

The central role of DNA damage and repair in CAG repeat diseases

(2018) Thomas H. Massey et al.   Disease Models & Mechanisms

A Liquid to Solid Phase Transition Underlying Pathological Huntingtin Exon1 Aggregation

(2018) Thomas R. Peskett et al.   MOLECULAR CELL

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

(2018) Yong-Jie Zhang et al.   NATURE MEDICINE

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis

(2018) Serena Lattante et al.   NEUROBIOLOGY OF AGING

Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress

(2018) Yoshifumi Sonobe et al.   NEUROBIOLOGY OF DISEASE

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

Noncanonical Translation Initiation in Eukaryotes

(2018) Thaddaeus Kwan et al.   Cold Spring Harbor Perspectives in Biology

C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation

(2018) Weiwei Cheng et al.   Nature Communications

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

(2018) Ricardos Tabet et al.   Nature Communications

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

(2018) Chantal Sellier et al.   Nature Communications

Increased nuclear DNA damage precedes mitochondrial dysfunction in peripheral blood mononuclear cells from Huntington’s disease patients

(2018) Georgina Askeland et al.   Scientific Reports

Polyglutamine Repeats in Neurodegenerative Diseases

(2018) Andrew P. Lieberman et al.   Annual Review of Pathology-Mechanisms of Disease

RNA-Dependent Epigenetic Silencing Directs Transcriptional Downregulation Caused by Intronic Repeat Expansions

(2018) Hannes Eimer et al.   CELL

Emerging Roles for Intermolecular RNA-RNA Interactions in RNP Assemblies

(2018) Briana Van Treeck et al.   CELL

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F

(2018) Fatma Ayhan et al.   EMBO JOURNAL

Repeat associated non-ATG (RAN) translation

(2018) John Douglas Cleary et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The G-rich Repeats in FMR1 and C9orf72 Loci Are Hotspots for Local Unpairing of DNA

(2018) Manar Abu Diab et al.   GENETICS

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart

(2018) Eric T Wang et al.   HUMAN MOLECULAR GENETICS

FAST-1 antisense RNA epigenetically alters FXN expression

(2018) Hajar Mikaeili et al.   Scientific Reports

Non-AUG translation: a new start for protein synthesis in eukaryotes

(2017) Michael G. Kearse et al.   GENES & DEVELOPMENT

A modifier of Huntington's disease onset at the MLH1 locus

(2017) Jong-Min Lee et al.   HUMAN MOLECULAR GENETICS

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

(2017) Hoanna Castro et al.   HUMAN MOLECULAR GENETICS

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome

(2017) Gaëlle Robin et al.   HUMAN MOLECULAR GENETICS

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis

(2017) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration

(2017) Yu Ohki et al.   Molecular Neurodegeneration

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

Polyglutamine tracts regulate beclin 1-dependent autophagy

(2017) Avraham Ashkenazi et al.   NATURE

Genome-wide profiling of heritable and de novo STR variations

(2017) Thomas Willems et al.   NATURE METHODS

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

(2017) Tao Zu et al.   NEURON

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

(2017) Taro Ishiguro et al.   NEURON

MutSβ abundance and Msh3 ATP hydrolysis activity are important drivers of CTG•CAG repeat expansions

(2017) Norma Keogh et al.   NUCLEIC ACIDS RESEARCH

MBNL expression in autoregulatory feedback loops

(2017) Patryk Konieczny et al.   RNA Biology

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response

(2017) Katelyn M. Green et al.   Nature Communications

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

(2017) Guillaume M. Hautbergue et al.   Nature Communications

The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD

(2017) Brian D. Freibaum et al.   Frontiers in Molecular Neuroscience

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

(2017) Andreas Neueder et al.   Scientific Reports

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome

(2016) Amy Krans et al.   ANNALS OF NEUROLOGY

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee et al.   CELL

The integrated stress response

(2016) Karolina Pakos‐Zebrucka et al.   EMBO REPORTS

Dmpkgene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice

(2016) Samuel T. Carrell et al.   HUMAN MOLECULAR GENETICS

Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation

(2016) Kohsuke Kanekura et al.   HUMAN MOLECULAR GENETICS

An Expanded CAG Repeat in Huntingtin Causes +1 Frameshifting

(2016) Paul Saffert et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Targeting CAG repeat RNAs reduces Huntington’s disease phenotype independently of huntingtin levels

(2016) Laura Rué et al.   JOURNAL OF CLINICAL INVESTIGATION

Distal Alternative Last Exons Localize mRNAs to Neural Projections

(2016) J. Matthew Taliaferro et al.   MOLECULAR CELL

CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins

(2016) Michael G. Kearse et al.   MOLECULAR CELL

The Biology of Huntingtin

(2016) Frédéric Saudou et al.   NEURON

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

(2016) Javier Quilez et al.   NUCLEIC ACIDS RESEARCH

Activating frataxin expression by repeat-targeted nucleic acids

(2016) Liande Li et al.   Nature Communications

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity

(2016) Brittany N. Flores et al.   PLoS One

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

(2016) Steven Boeynaems et al.   Scientific Reports

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

(2015) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

(2015) Zhengrui Xi et al.   ACTA NEUROPATHOLOGICA

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

(2015) Dejun Yang et al.   ACTA NEUROPATHOLOGICA

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

(2015) Renate K. Hukema et al.   HUMAN MOLECULAR GENETICS

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome

(2015) Seok Yoon Oh et al.   HUMAN MOLECULAR GENETICS

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

(2015) Zhouteng Tao et al.   HUMAN MOLECULAR GENETICS

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

(2015) Yuan Lin et al.   MOLECULAR CELL

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

(2015) I Gijselinck et al.   MOLECULAR PSYCHIATRY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

RAN Translation in Huntington Disease

(2015) Monica Bañez-Coronel et al.   NEURON

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions inC9orf72is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins

(2015) Y. Davidson et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function

(2015) Alondra Schweizer Burguete et al.   eLife

Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders

(2015) Karen Usdin et al.   Frontiers in Genetics

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

(2014) Jenny Russ et al.   ACTA NEUROPATHOLOGICA

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

(2014) Elaine Y. Liu et al.   ACTA NEUROPATHOLOGICA

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins

(2014) Yoshihiro Kino et al.   HUMAN MOLECULAR GENETICS

Deactivation of TBP contributes to SCA17 pathogenesis

(2014) Tun-Chieh Hsu et al.   HUMAN MOLECULAR GENETICS

Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription

(2014) D. Kumari et al.   HUMAN MOLECULAR GENETICS

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS

(2014) Mai Yamakawa 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

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability

(2014) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

(2014) D. Colak et al.   SCIENCE

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

(2014) Erick W. Loomis et al.   PLoS Genetics

Phase transitions of multivalent proteins can promote clustering of membrane receptors

(2014) Sudeep Banjade et al.   eLife

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2014) Yvonne S Davidson et al.   Acta Neuropathologica Communications

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of De NovoHOXA13Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation

(2013) Kailey M. Owens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin

(2013) Nicholas Stephane Caron et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches

(2013) Ricardo Mouro Pinto et al.   PLoS Genetics

Degeneration of the Cerebellum in Huntington's Disease (HD): Possible Relevance for the Clinical Picture and Potential Gateway to Pathological Mechanisms of the Disease Process

(2012) Udo Rüb et al.   BRAIN PATHOLOGY

Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins

(2012) Eric T. Wang et al.   CELL

A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability

(2012) H. Xiao et al.   HUMAN MOLECULAR GENETICS

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

(2012) Shawn J. Stochmanski et al.   HUMAN MOLECULAR GENETICS

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

(2012) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

Phase transitions in the assembly of multivalent signalling proteins

(2012) Pilong Li et al.   NATURE

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

(2012) F. L. Conforti et al.   NEUROLOGY

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

(2012) C. Heatwole et al.   NEUROLOGY

Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice

(2012) Marina Kovalenko et al.   PLoS One

CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

(2012) Akio Masuda et al.   Scientific Reports

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective

(2011) Michael R. Santoro et al.   Annual Review of Pathology-Mechanisms of Disease

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

14-3-3 Binding to Ataxin-1(ATXN1) Regulates Its Dephosphorylation at Ser-776 and Transport to the Nucleus

(2011) Shaojuan Lai 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

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia

(2011) E. Kim et al.   NUCLEIC ACIDS RESEARCH

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

(2011) W. J. Krzyzosiak et al.   NUCLEIC ACIDS RESEARCH

Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference

(2011) Mateusz de Mezer et al.   NUCLEIC ACIDS RESEARCH

CAG repeats mimic CUG repeats in the misregulation of alternative splicing

(2011) Agnieszka Mykowska et al.   NUCLEIC ACIDS RESEARCH

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

(2010) Tanel Punga et al.   EMBO Molecular Medicine

Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells

(2010) Daman Kumari et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

The mechanism of eukaryotic translation initiation and principles of its regulation

(2010) Richard J. Jackson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776

(2010) Lisa Duvick et al.   NEURON

Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats

(2010) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Non-ATG-initiated translation directed by microsatellite expansions

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