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

CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review

(2019) Haris Babačić et al.   PLoS One

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

(2019) Richard Gallon et al.   HUMAN MUTATION

A Compendium of Mutational Signatures of Environmental Agents

(2019) Jill E. Kucab et al.   CELL

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

(2019) Michael Flower et al.   BRAIN

Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington’s disease

(2019) Bryan Zeitler et al.   NATURE MEDICINE

Trinucleotide repeat instability during double-strand break repair: from mechanisms to gene therapy

(2018) Valentine Mosbach et al.   CURRENT GENETICS

An overview of apoptosis assays detecting DNA fragmentation

(2018) Pavlína Majtnerová et al.   MOLECULAR BIOLOGY REPORTS

CRISPR takes on Huntington’s disease

(2018) Michael Eisenstein   NATURE

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

(2018) Karl P Hodel et al.   eLife

Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases

(2018) Magdalena Dabrowska et al.   Frontiers in Neuroscience

Mutational spectra and mutational signatures: Insights into cancer aetiology and mechanisms of DNA damage and repair

(2018) David H. Phillips   DNA REPAIR

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

(2017) Davina J Hensman Moss et al.   LANCET NEUROLOGY

Therapies targeting DNA and RNA in Huntington's disease

(2017) Edward J Wild et al.   LANCET NEUROLOGY

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

(2017) Alex Mas Monteys et al.   MOLECULAR THERAPY

Cytosine deamination and base excision repair cause R-loop–induced CAG repeat fragility and instability inSaccharomyces cerevisiae

(2017) Xiaofeng A. Su et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A selective inhibitor of histone deacetylase 3 prevents cognitive deficits and suppresses striatal CAG repeat expansions in Huntington’s disease mice

(2017) Nuria Suelves et al.   Scientific Reports

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

(2017) Zachary R. Chalmers et al.   Genome Medicine

Human-to-mouse prion-like propagation of mutant huntingtin protein

(2016) Iksoo Jeon et al.   ACTA NEUROPATHOLOGICA

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

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

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

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

(2016) Fernando Morales et al.   DNA REPAIR

Disease-associated repeat instability and mismatch repair

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

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

(2016) Serena Nik-Zainal et al.   NATURE

Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase

(2016) Cinzia Cinesi et al.   Nature Communications

Crosstalk between MSH2–MSH3 and polβ promotes trinucleotide repeat expansion during base excision repair

(2016) Yanhao Lai et al.   Nature Communications

Mutational signatures of ionizing radiation in second malignancies

(2016) Sam Behjati et al.   Nature Communications

Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells

(2016) Foad J. Rouhani et al.   PLoS Genetics

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

(2015) Jong-Min Lee et al.   CELL

Mutagenicity monitoring following battlefield exposures: Longitudinal study ofHPRTmutations in gulf war i veterans exposed to depleted uranium

(2015) Richard J. Albertini et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Mutagenicity monitoring following battlefield exposures: Molecular analysis ofHPRTmutations in gulf war i veterans exposed to depleted uranium

(2015) Janice A. Nicklas et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

(2015) Adam Shlien et al.   NATURE GENETICS

Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice

(2015) Eloise Larson et al.   NEUROBIOLOGY OF DISEASE

Large expansion of CTG•CAG repeats is exacerbated by MutSβ in human cells

(2015) Rie Nakatani et al.   Scientific Reports

Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease

(2015) Helen Budworth et al.   PLoS Genetics

Characterization of HTT Inclusion Size, Location, and Timing in the zQ175 Mouse Model of Huntington´s Disease: An In Vivo High-Content Imaging Study

(2015) Nikisha Carty et al.   PLoS One

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

(2014) Sandra Martins et al.   HUMAN GENETICS

Diffusion of Human Replication Protein A along Single-Stranded DNA

(2014) Binh Nguyen et al.   JOURNAL OF MOLECULAR BIOLOGY

Genome sequencing of normal cells reveals developmental lineages and mutational processes

(2014) Sam Behjati et al.   NATURE

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

(2014) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Mutation signatures of carcinogen exposure: genome-wide detection and new opportunities for cancer prevention

(2014) Song Poon et al.   Genome Medicine

CDK4/6-inhibiting drug substitutes for p21 and p16 in senescence: Duration of cell cycle arrest and MTOR activity determine geroconversion

(2013) Olga V. Leontieva et al.   CELL CYCLE

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

RPA Coordinates DNA End Resection and Prevents Formation of DNA Hairpins

(2013) Huan Chen et al.   MOLECULAR CELL

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Proteostasis of polyglutamine varies among neurons and predicts neurodegeneration

(2013) Andrey S Tsvetkov et al.   Nature Chemical Biology

Striatal Infusion of Glial Conditioned Medium Diminishes Huntingtin Pathology in R6/1 Mice

(2013) Juan Perucho 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

Deciphering Signatures of Mutational Processes Operative in Human Cancer

(2013) Ludmil B. Alexandrov et al.   Cell Reports

Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues

(2013) Michelle M. Axford et al.   PLoS Genetics

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

MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice

(2013) Stéphanie Tomé et al.   PLoS Genetics

Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues

(2012) Stéphanie Tomé et al.   DNA REPAIR

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations

(2012) Catherine F. Higham et al.   HUMAN MOLECULAR GENETICS

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

(2012) Fernando Morales et al.   HUMAN MOLECULAR GENETICS

The Werner Syndrome Protein Promotes CAG/CTG Repeat Stability by Resolving Large (CAG)n/(CTG)nHairpins

(2012) Nelson L. S. Chan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Characterization of Human DNA Polymerase Delta and Its Subassemblies Reconstituted by Expression in the Multibac System

(2012) Yajing Zhou et al.   PLoS One

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

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

(2012) Yunfu Lin et al.   PLoS One

Small Molecule Modulates Hairpin Structures in CAG Trinucleotide Repeats

(2011) Masaki Hagihara et al.   CHEMBIOCHEM

In vitro repair of DNA hairpins containing various numbers of CAG/CTG trinucleotide repeats

(2011) Tianyi Zhang et al.   DNA REPAIR

Stabilization of Expanded (CTG)•(CAG) Repeats by Antisense Oligonucleotides

(2011) Masayuki Nakamori et al.   MOLECULAR THERAPY

Age, CAG repeat length, and clinical progression in Huntington's disease

(2011) Adam Rosenblatt et al.   MOVEMENT DISORDERS

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver

(2011) Jong-Min Lee et al.   PLoS One

Bifunctional Anti-Huntingtin Proteasome-Directed Intrabodies Mediate Efficient Degradation of Mutant Huntingtin Exon 1 Protein Fragments

(2011) David C. Butler et al.   PLoS One

Functions of Alternative Replication Protein A in Initiation and Elongation

(2010) Aaron C. Mason et al.   BIOCHEMISTRY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

A novel approach to investigate tissue-specific trinucleotide repeat instability

(2010) Jong-Min Lee et al.   BMC Systems Biology

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

(2010) Masayuki Nakamori 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

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

(2010) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSβ, but clustered slip-outs are poorly repaired

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

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

Mismatch Recognition Protein MutSβ Does Not Hijack (CAG)nHairpin Repairin Vitro

(2009) Lei Tian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Incision-dependent and error-free repair of (CAG) n /(CTG) n hairpins in human cell extracts

(2009) Caixia Hou et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2

(2009) Masayuki Nakamori et al.   NEUROMUSCULAR DISORDERS

R loops stimulate genetic instability of CTG{middle dot}CAG repeats

(2009) Y. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Zinc-finger directed double-strand breaks within CAG repeat tracts promote repeat instability in human cells

(2009) D. Mittelman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice

(2009) Stéphanie Tomé et al.   PLoS Genetics

Stoichiometry of Base Excision Repair Proteins Correlates with Increased Somatic CAG Instability in Striatum over Cerebellum in Huntington's Disease Transgenic Mice

(2009) Agathi-Vassiliki Goula et al.   PLoS Genetics

Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease

(2008) Cynthia T. McMurray   DNA REPAIR

Transcription destabilizes triplet repeats

(2008) Yunfu Lin et al.   MOLECULAR CARCINOGENESIS

Transcription-coupled DNA repair: two decades of progress and surprises

(2008) Philip C. Hanawalt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

DNA instability in postmitotic neurons

(2008) R. Gonitel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA