RNA biology of disease-associated microsatellite repeat expansions

Targeting RNA for processing or destruction by the eukaryotic RNA exosome and its cofactors

(2017) John C. Zinder et al.   GENES & DEVELOPMENT

R Loops and Links to Human Disease

(2017) Patricia Richard et al.   JOURNAL OF MOLECULAR BIOLOGY

CRISPR/Cas9-Induced (CTG⋅CAG) n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing

(2017) Ellen L. van Agtmaal et al.   MOLECULAR THERAPY

CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo

(2017) Alex Mas Monteys et al.   MOLECULAR THERAPY

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

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

(2017) Taro Ishiguro et al.   NEURON

Intrinsically disordered RGG/RG domains mediate degenerate specificity in RNA binding

(2017) Bagdeser A. Ozdilek et al.   NUCLEIC ACIDS RESEARCH

Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

(2017) Kevin Y. Shi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat

(2017) Anke E. E. G. Gudde et al.   RNA Biology

Biogenesis and Function of Ago-Associated RNAs

(2017) Iben Daugaard et al.   TRENDS IN GENETICS

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

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

Engineered CRISPR Systems for Next Generation Gene Therapies

(2017) Michael Pineda et al.   ACS Synthetic Biology

Structure and Dynamics of DNA and RNA Double Helices Obtained from the GGGGCC and CCCCGG Hexanucleotide Repeats That Are the Hallmark of C9FTD/ALS Diseases

(2016) Yuan Zhang et al.   ACS Chemical Neuroscience

Pathogenic C9ORF72 Antisense Repeat RNA Forms a Double Helix with Tandem C:C Mismatches

(2016) David W. Dodd et al.   BIOCHEMISTRY

Nuclear speckles are detention centers for transcripts containing expanded CAG repeats

(2016) Martyna O. Urbanek et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Concentration-dependent conformational changes in GQ-forming ODNs

(2016) Yang Yun Li et al.   BIOPHYSICAL CHEMISTRY

RAN translation—What makes it run?

(2016) Katelyn M. Green et al.   BRAIN RESEARCH

Conflict Resolution in the Genome: How Transcription and Replication Make It Work

(2016) Stephan Hamperl et al.   CELL

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

(2016) Kyung-Ha Lee et al.   CELL

Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers

(2016) Yi Lin et al.   CELL

Nuclear subcompartments: an overview

(2016) Vinícius Santana Nunes et al.   CELL BIOLOGY INTERNATIONAL

MutSβ promotes trinucleotide repeat expansion by recruiting DNA polymerase β to nascent (CAG)n or (CTG)n hairpins for error-prone DNA synthesis

(2016) Jinzhen Guo et al.   CELL RESEARCH

This bud's for you: mechanisms of cellular nucleocytoplasmic trafficking via nuclear envelope budding

(2016) Lee G Fradkin et al.   CURRENT OPINION IN CELL BIOLOGY

Structured RNAs that evade or confound exonucleases: function follows form

(2016) Benjamin M Akiyama et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks

(2016) Meghan M. Slean et al.   DNA REPAIR

Disease-associated repeat instability and mismatch repair

(2016) Monika H.M. Schmidt et al.   DNA REPAIR

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

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9

(2016) Jun Wan Shin et al.   HUMAN MOLECULAR GENETICS

Biochemical Analysis of Yeast Suppressor of Ty 4/5 (Spt4/5) Reveals the Importance of Nucleic Acid Interactions in the Prevention of RNA Polymerase II Arrest

(2016) J. Brooks Crickard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nucleocytoplasmic Transport of RNAs and RNA–Protein Complexes

(2016) Katherine E. Sloan et al.   JOURNAL OF MOLECULAR BIOLOGY

Prevalent, Dynamic, and Conserved R-Loop Structures Associate with Specific Epigenomic Signatures in Mammals

(2016) Lionel A. Sanz 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

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Structure of transcribing mammalian RNA polymerase II

(2016) Carrie Bernecky et al.   NATURE

Precise small-molecule recognition of a toxic CUG RNA repeat expansion

(2016) Suzanne G Rzuczek et al.   Nature Chemical Biology

rG4-seq reveals widespread formation of G-quadruplex structures in the human transcriptome

(2016) Chun Kit Kwok et al.   NATURE METHODS

Cornerstones of CRISPR–Cas in drug discovery and therapy

(2016) Christof Fellmann et al.   NATURE REVIEWS DRUG DISCOVERY

The regulation and functions of the nuclear RNA exosome complex

(2016) Cornelia Kilchert et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The role of break-induced replication in large-scale expansions of (CAG) n /(CTG) n repeats

(2016) Jane C Kim et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Structural insights into NusG regulating transcription elongation

(2016) Bin Liu et al.   NUCLEIC ACIDS RESEARCH

Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes

(2016) Dorota Gudanis et al.   NUCLEIC ACIDS RESEARCH

Assembly and trafficking of box C/D and H/ACA snoRNPs

(2016) Séverine Massenet et al.   RNA Biology

RNA G-quadruplexes are globally unfolded in eukaryotic cells and depleted in bacteria

(2016) J. U. Guo et al.   SCIENCE

Translational control by 5'-untranslated regions of eukaryotic mRNAs

(2016) A. G. Hinnebusch et al.   SCIENCE

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

(2016) N. J. Kramer et al.   SCIENCE

Hypo- and Hyper-Assembly Diseases of RNA–Protein Complexes

(2016) Siddharth Shukla et al.   TRENDS IN MOLECULAR MEDICINE

Regulation of mRNA Translation by MID1: A Common Mechanism of Expanded CAG Repeat RNAs

(2016) Nadine Griesche et al.   Frontiers in Cellular Neuroscience

Activating frataxin expression by repeat-targeted nucleic acids

(2016) Liande Li et al.   Nature Communications

The role of break-induced replication in large-scale expansions of (CAG) n /(CTG) n repeats

(2016) Jane C Kim et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?

(2016) Xiao-Nan Zhao et al.   PLoS Genetics

The exon junction complex: a lifelong guardian of mRNA fate

(2016) Lauren A. Woodward et al.   Wiley Interdisciplinary Reviews-RNA

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

CRISPR/Cas9: Implications for Modeling and Therapy of Neurodegenerative Diseases

(2016) Weili Yang et al.   Frontiers in Molecular Neuroscience

Subcellular Clearance and Accumulation of Huntington Disease Protein: A Mini-Review

(2016) Ting Zhao et al.   Frontiers in Molecular Neuroscience

CRISPR-Cas9 for in vivo Gene Therapy: Promise and Hurdles

(2016) Wei-Jing Dai et al.   Molecular Therapy-Nucleic Acids

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells

(2016) Yaara Cohen-Hadad et al.   Stem Cell Reports

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

(2016) Michael Niblock et al.   Acta Neuropathologica Communications

Rapid Brownian Motion Primes Ultrafast Reconstruction of Intrinsically Disordered Phe-Gly Repeats Inside the Nuclear Pore Complex

(2016) R. Moussavi-Baygi 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

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

Nuclear bodies: the emerging biophysics of nucleoplasmic phases

(2015) Lian Zhu et al.   CURRENT OPINION IN CELL BIOLOGY

How specific is CRISPR/Cas9 really?

(2015) Henriette O’Geen et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

The Repeat Expansion Diseases: The dark side of DNA repair

(2015) Xiao-Nan Zhao et al.   DNA REPAIR

Potential pitfalls of CRISPR/Cas9-mediated genome editing

(2015) Rongxue Peng et al.   FEBS Journal

Forensic typing of short tandem repeat markers on the X and Y chromosomes

(2015) Toni M. Diegoli   Forensic Science International-Genetics

Gene-targeting pharmaceuticals for single-gene disorders

(2015) Arthur L. Beaudet 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

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

(2015) R.A.M. Buijsen et al.   HUMAN REPRODUCTION

Compartmentalization and Functionality of Nuclear Disorder: Intrinsic Disorder and Protein-Protein Interactions in Intra-Nuclear Compartments

(2015) Fanchi Meng et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Rationally Designed Small Molecules That Target Both the DNA and RNA Causing Myotonic Dystrophy Type 1

(2015) Lien Nguyen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

The Torsin Activator LULL1 Is Required for Efficient Growth of Herpes Simplex Virus 1

(2015) Elizabeth M. Turner et al.   JOURNAL OF VIROLOGY

Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos?

(2015) Constanza J. Cortes et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Differential DNA mismatch repair underlies mutation rate variation across the human genome

(2015) Fran Supek et al.   NATURE

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

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

Stepping toward therapeutic CRISPR

(2015) Keith T. Gagnon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy Type 1 Induced Pluripotent Stem Cell-Derived Neural Stem Cells

(2015) Guangbin Xia et al.   STEM CELLS

Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65

(2015) Xin Sun et al.   Scientific Reports

Heterozygosity for a Hypomorphic Polβ Mutation Reduces the Expansion Frequency in a Mouse Model of the Fragile X-Related Disorders

(2015) Rachel Adihe Lokanga et al.   PLoS Genetics

Nuclear Export of Messenger RNA

(2015) Jun Katahira   Genes

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

(2015) Karen Usdin et al.   Frontiers in Genetics

Multiple Export Mechanisms for mRNAs

(2015) Mildred Delaleau et al.   Cells

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat

(2015) Daniel R. Scoles et al.   PLoS One

Targeting the r(CGG) Repeats That Cause FXTAS with Modularly Assembled Small Molecules and Oligonucleotides

(2014) Tuan Tran et al.   ACS Chemical Biology

The Scanning Mechanism of Eukaryotic Translation Initiation

(2014) Alan G. Hinnebusch   Annual Review of Biochemistry

Mechanisms of transcriptional dysregulation in repeat expansion disorders

(2014) Matthias Groh et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

(2014) Johnathan Cooper-Knock et al.   BRAIN

RNA–protein interactions in unstable microsatellite diseases

(2014) Apoorva Mohan et al.   BRAIN RESEARCH

Nuclear bodies: new insights into assembly/dynamics and disease relevance

(2014) Judith E Sleeman et al.   CURRENT OPINION IN CELL BIOLOGY

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders

(2014) John Douglas Cleary et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition

(2014) Scott A. Lujan et al.   GENOME RESEARCH

X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion

(2014) R. Adihe Lokanga et al.   HUMAN MOLECULAR GENETICS

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

(2014) Yoshihiro Kino et al.   HUMAN MOLECULAR GENETICS

Natural antisense transcripts

(2014) O. Khorkova et al.   HUMAN MOLECULAR GENETICS

A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families

(2014) Sofie Metsu et al.   HUMAN MUTATION

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans

(2014) Susana M D A Garcia et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease

(2014) Michael G. Kearse et al.   Neurotherapeutics

Structural studies of CNG repeats

(2014) Agnieszka Kiliszek et al.   NUCLEIC ACIDS RESEARCH

RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders

(2014) Marzena Wojciechowska et al.   NUCLEIC ACIDS RESEARCH

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

(2014) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

p54nrb/NonO and PSF promote U snRNA nuclear export by accelerating its export complex assembly

(2014) Hiroto Izumi et al.   NUCLEIC ACIDS RESEARCH

Distinctive structural motifs of RNA G-quadruplexes composed of AGG, CGG and UGG trinucleotide repeats

(2014) Magdalena Malgowska 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

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Mechanisms of mRNA export

(2014) Petra Björk et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Quality control of mRNP biogenesis: Networking at the transcription site

(2014) Andrea B. Eberle et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

(2014) Sofie Metsu et al.   PLoS Genetics

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

(2014) Matthias Groh et al.   PLoS Genetics

The dual nature of mismatch repair as antimutator and mutator: for better or for worse

(2014) Sara Thornby Bak et al.   Frontiers in 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

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

The balancing act of DNA repeat expansions

(2013) Jane C Kim et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Bidirectional transcription of trinucleotide repeats: Roles for excision repair

(2013) Helen Budworth et al.   DNA REPAIR

On the Origin of the Eukaryotic Chromosome: The Role of Noncanonical DNA Structures in Telomere Evolution

(2013) Miguel Garavís et al.   Genome Biology and Evolution

Coordinated Processing of 3′ Slipped (CAG)n/(CTG)nHairpins by DNA Polymerases β and δ Preferentially Induces Repeat Expansions

(2013) Nelson L. S. Chan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

TMPyP4 Porphyrin Distorts RNA G-quadruplex Structures of the Disease-associated r(GGGGCC)nRepeat of theC9orf72Gene and Blocks Interaction of RNA-binding Proteins

(2013) Bita Zamiri et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Defining the RGG/RG Motif

(2013) Palaniraja Thandapani et al.   MOLECULAR CELL

Visualization and selective chemical targeting of RNA G-quadruplex structures in the cytoplasm of human cells

(2013) Giulia Biffi et al.   Nature Chemistry

A superfolding Spinach2 reveals the dynamic nature of trinucleotide repeat–containing RNA

(2013) Rita L Strack et al.   NATURE METHODS

Friedreich's ataxia–associated GAA repeats induce replication-fork reversal and unusual molecular junctions

(2013) Cindy Follonier et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

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

(2013) Peter K. Todd et al.   NEURON

Microsatellite Tandem Repeats Are Abundant in Human Promoters and Are Associated with Regulatory Elements

(2013) Sterling Sawaya et al.   PLoS One

Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutL  endonuclease activation

(2013) A. Pluciennik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

(2013) K. Sathasivam 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

Huntington's disease: underlying molecular mechanisms and emerging concepts

(2013) John Labbadia et al.   TRENDS IN BIOCHEMICAL SCIENCES

Epigenetic modifications in trinucleotide repeat diseases

(2013) Marguerite V. Evans-Galea et al.   TRENDS IN MOLECULAR MEDICINE

Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1–PP2A protein complex

(2013) Sybille Krauß et al.   Nature Communications

Torsin Mediates Primary Envelopment of Large Ribonucleoprotein Granules at the Nuclear Envelope

(2013) Vahbiz Jokhi 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

Lives that introns lead after splicing

(2013) Jay R. Hesselberth   Wiley Interdisciplinary Reviews-RNA

Nuclear RNA surveillance: role of TRAMP in controlling exosome specificity

(2013) Karyn Schmidt et al.   Wiley Interdisciplinary Reviews-RNA

CRM1 and its ribosome export adaptor NMD3 localize to the nucleolus and affect rRNA synthesis

(2013) Baoyan Bai et al.   Nucleus

Rationally Designed Small Molecules Targeting the RNA That Causes Myotonic Dystrophy Type 1 Are Potently Bioactive

(2012) Jessica L. Childs-Disney et al.   ACS Chemical Biology

Mutations Arising During Repair of Chromosome Breaks

(2012) Anna Malkova et al.   Annual Review of Genetics

Spt4 Is Selectively Required for Transcription of Extended Trinucleotide Repeats

(2012) Chia-Rung Liu et al.   CELL

Nuclear Envelope Budding Enables Large Ribonucleoprotein Particle Export during Synaptic Wnt Signaling

(2012) Sean D. Speese et al.   CELL

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

A Nexus for Gene Expression—Molecular Mechanisms of Spt5 and NusG in the Three Domains of Life

(2012) Finn Werner   JOURNAL OF MOLECULAR BIOLOGY

Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells

(2012) Yu Zhang et al.   MOLECULAR CELL

R-Loop Formation Is a Distinctive Characteristic of Unmethylated Human CpG Island Promoters

(2012) Paul A. Ginno et al.   MOLECULAR CELL

RNA Interference Targeting CUG Repeats in a Mouse Model of Myotonic Dystrophy

(2012) Krzysztof Sobczak et al.   MOLECULAR THERAPY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Translation drives mRNA quality control

(2012) Christopher J Shoemaker et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA

(2012) Binkai Chi et al.   NUCLEIC ACIDS RESEARCH

The Unstable CCTG Repeat Responsible for Myotonic Dystrophy Type 2 Originates from an AluSx Element Insertion into an Early Primate Genome

(2012) Tatsuaki Kurosaki et al.   PLoS One

Nucleotide Excision Repair, Mismatch Repair, and R-Loops Modulate Convergent Transcription-Induced Cell Death and Repeat Instability

(2012) Yunfu Lin et al.   PLoS One

Epigenetics in Nucleotide Repeat Expansion Disorders

(2012) Fang He et al.   SEMINARS IN NEUROLOGY

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

(2012) Pietro Fratta et al.   Scientific Reports

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

(2012) Mónica Bañez-Coronel et al.   PLoS Genetics

Recent Advances in Developing Small Molecules Targeting RNA

(2011) Lirui Guan et al.   ACS Chemical Biology

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

mRNA export and the TREX complex

(2011) Jun Katahira   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Architecture of the RNA polymerase-Spt4/5 complex and basis of universal transcription processivity

(2011) Fuensanta W Martinez-Rucobo et al.   EMBO JOURNAL

R-loop-mediated genomic instability is caused by impairment of replication fork progression

(2011) W. Gan et al.   GENES & DEVELOPMENT

A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression

(2011) Daniel W. Chung et al.   HUMAN MOLECULAR GENETICS

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

A Functional Role for TorsinA in Herpes Simplex Virus 1 Nuclear Egress

(2011) M. Maric et al.   JOURNAL OF VIROLOGY

Human Senataxin Resolves RNA/DNA Hybrids Formed at Transcriptional Pause Sites to Promote Xrn2-Dependent Termination

(2011) Konstantina Skourti-Stathaki et al.   MOLECULAR CELL

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

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

Repeat expansion in the budding yeast ribosomal DNA can occur independently of the canonical homologous recombination machinery

(2011) Jonathan Houseley et al.   NUCLEIC ACIDS RESEARCH

Selective inhibition of MBNL1–CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2) †

(2011) Chun-Ho Wong et al.   NUCLEIC ACIDS RESEARCH

The Tpr protein regulates export of mRNAs with retained introns that traffic through the Nxf1 pathway

(2011) J. H. Coyle et al.   RNA

Biogenesis and function of nuclear bodies

(2011) Yuntao S. Mao et al.   TRENDS IN GENETICS

Break-induced replication: What is it and what is it for?

(2010) Bertrand Llorente et al.   CELL CYCLE

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

A Genomewide RNA Interference Screen for Modifiers of Aggregates Formation by Mutant Huntingtin in Drosophila

(2010) S. Zhang et al.   GENETICS

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats

(2010) Masayuki Nakamori et al.   HUMAN MOLECULAR GENETICS

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

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

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

(2010) Richard S. Finkel   JOURNAL OF CHILD NEUROLOGY

Convergent Transcription through a Long CAG Tract Destabilizes Repeats and Induces Apoptosis

(2010) Y. Lin et al.   MOLECULAR AND CELLULAR BIOLOGY

A Genomic Portrait of Human Microsatellite Variation

(2010) B. A. Payseur et al.   MOLECULAR BIOLOGY AND EVOLUTION

Replication-dependent instability at (CTG)•(CAG) repeat hairpins in human cells

(2010) Guoqi Liu et al.   Nature Chemical Biology

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Repeat expansion disease: progress and puzzles in disease pathogenesis

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

Spt4/5 stimulates transcription elongation through the RNA polymerase clamp coiled-coil motif

(2010) Angela Hirtreiter et al.   NUCLEIC ACIDS RESEARCH

MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing

(2010) Emily S. Goers et al.   NUCLEIC ACIDS RESEARCH

Arginine methylation of REF/ALY promotes efficient handover of mRNA to TAP/NXF1

(2010) Ming-Lung Hung et al.   NUCLEIC ACIDS RESEARCH

Splice-Site Mutations Cause Rrp6-Mediated Nuclear Retention of the Unspliced RNAs and Transcriptional Down-Regulation of the Splicing-Defective Genes

(2010) Andrea B. Eberle et al.   PLoS One

RNA polymerase and transcription elongation factor Spt4/5 complex structure

(2010) B. J. Klein et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

(2010) Misti C. White et al.   PLoS Genetics

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Crystal structure of the human transcription elongation factor DSIF hSpt4 subunit in complex with the hSpt5 dimerization interface

(2009) Sabine Wenzel et al.   BIOCHEMICAL JOURNAL

Pathogenic mechanisms of myotonic dystrophy

(2009) Johanna E. Lee et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci

(2009) I-Cheng Chen et al.   BMC MOLECULAR BIOLOGY

Non-B DNA structure-induced genetic instability and evolution

(2009) Junhua Zhao et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Translational control of eukaryotic gene expression

(2009) Katrien Van Der Kelen et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Five siRNAs Targeting Three SNPs May Provide Therapy for Three-Quarters of Huntington's Disease Patients

(2009) Edith L. Pfister et al.   CURRENT BIOLOGY

Double-Strand Break Repair Pathways Protect against CAG/CTG Repeat Expansions, Contractions and Repeat-Mediated Chromosomal Fragility in Saccharomyces cerevisiae

(2009) R. Sundararajan et al.   GENETICS

Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast

(2009) Alexander A. Shishkin et al.   MOLECULAR CELL

SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination

(2009) Alix Kerrest et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Peculiarities of Large Intron Splicing in Animals

(2009) Samuel Shepard et al.   PLoS One

Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

(2009) T. M. Wheeler et al.   SCIENCE

Genome-Wide Analysis in Vivo of Translation with Nucleotide Resolution Using Ribosome Profiling

(2009) N. T. Ingolia et al.   SCIENCE

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

(2008) Marco Baralle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes

(2008) Yoshio Ikeda et al.   CEREBELLUM

Regulation of mRNP dynamics along the export pathway

(2008) Nahid Iglesias et al.   FEBS LETTERS

The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases

(2008) K. Usdin   GENOME RESEARCH

Binding of ATP to UAP56 is necessary for mRNA export

(2008) K. P. Kota et al.   JOURNAL OF CELL SCIENCE

Transcription destabilizes triplet repeats

(2008) Yunfu Lin et al.   MOLECULAR CARCINOGENESIS

Mutually exclusive interactions drive handover of mRNA from export adaptors to TAP

(2008) Guillaume M. Hautbergue et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Antisense Transcriptomes of Human Cells

(2008) Yiping He et al.   SCIENCE