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

Cockayne Syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo

(2016) Irina V. Kovtun et al.   Aging-US

The Nucleotide Sequence, DNA Damage Location, and Protein Stoichiometry Influence the Base Excision Repair Outcome at CAG/CTG Repeats

(2012) Agathi-Vasiliki Goula et al.   BIOCHEMISTRY

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

(2012) Stéphanie Tomé et al.   DNA REPAIR

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

Human Mismatch Repair Protein hMutLα Is Required to Repair Short Slipped-DNAs of Trinucleotide Repeats

(2012) Gagan B. Panigrahi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role of Mismatch Repair Enzymes in GAA·TTC Triplet-repeat Expansion in Friedreich Ataxia Induced Pluripotent Stem Cells

(2012) Jintang Du et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic background modulates behavioral impairments in R6/2 mice and suggests a role for dominant genetic modifiers in Huntington’s disease pathogenesis

(2012) Randi-Michelle Cowin et al.   MAMMALIAN GENOME

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

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

(2012) Vahid Ezzatizadeh et al.   NEUROBIOLOGY OF DISEASE

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

(2012) J.- M. Lee et al.   NEUROLOGY

Transcription Elongation and Tissue-Specific Somatic CAG Instability

(2012) Agathi-Vasiliki Goula et al.   PLoS Genetics

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability

(2011) S. Tome et al.   HUMAN MOLECULAR GENETICS

Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1

(2011) Leroy Hubert et al.   HUMAN MOLECULAR GENETICS

The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress

(2011) Ian Holt et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Multiple Factors Insulate Msh2–Msh6 Mismatch Repair Activity from Defects in Msh2 Domain I

(2011) Charanya Kumar et al.   JOURNAL OF MOLECULAR BIOLOGY

Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions

(2011) Eliana Marisa Ramos et al.   MOVEMENT DISORDERS

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

(2011) Adam Rosenblatt et al.   MOVEMENT DISORDERS

DNA Mismatch Repair Gene Polymorphisms Affect Survival in Pancreatic Cancer

(2011) X. Dong et al.   ONCOLOGIST

Onset and Progression of Behavioral and Molecular Phenotypes in a Novel Congenic R6/2 Line Exhibiting Intergenerational CAG Repeat Stability

(2011) Randi-Michelle Cowin et al.   PLoS One

Correlation of Inter-Locus Polyglutamine Toxicity with CAG•CTG Triplet Repeat Expandability and Flanking Genomic DNA GC Content

(2011) Colm E. Nestor et al.   PLoS One

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability

(2010) Sherman Ku et al.   Cell Stem Cell

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation

(2010) Anna Seriola et al.   HUMAN MOLECULAR GENETICS

Association Between Genetic Polymorphisms in the XRCC1, XRCC3, XPD, GSTM1, GSTT1, MSH2, MLH1, MSH3, and MGMT Genes and Radiosensitivity in Breast Cancer Patients

(2010) Monica Mangoni et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

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

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus

(2010) John D Cleary et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Age at onset in Huntington’s disease: replication study on the associations of ADORA2A, HAP1 and OGG1

(2010) Elahe Taherzadeh-Fard et al.   NEUROGENETICS

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions

(2010) S. L. Martinez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Sequence replacements in the central β-turn of plastocyanin

(2010) Joel A. Ybe et al.   PROTEIN SCIENCE

PROMOTIF-A program to identify and analyze structural motifs in proteins

(2010) E. Gail Hutchinson et al.   PROTEIN SCIENCE

Quantitative Phosphoproteomics Reveals Widespread Full Phosphorylation Site Occupancy During Mitosis

(2010) J. V. Olsen et al.   Science Signaling

Continuous and Periodic Expansion of CAG Repeats in Huntington's Disease R6/1 Mice

(2010) Linda Møllersen et al.   PLoS Genetics

CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup

(2009) Simon C. Warby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study

(2009) João Conde et al.   BMC CANCER

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

(2009) Laura Giunti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Distinct Nucleotide Binding/Hydrolysis Properties and Molar Ratio of MutSα and MutSβ Determine Their Differential Mismatch Binding Activities

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

CTG/CAG Repeat Instability Is Modulated by the Levels of Human DNA Ligase I and Its Interaction with Proliferating Cell Nuclear Antigen

(2009) Arturo López Castel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Species-Specific Differences in Translational Regulation of Dihydrofolate Reductase

(2009) Y.-C. Hsieh et al.   MOLECULAR PHARMACOLOGY

Evaluating  -turn mimics as  -sheet folding nucleators

(2009) A. A. Fuller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Improved prediction of protein side-chain conformations with SCWRL4

(2009) Georgii G. Krivov et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Increasing protein stability by improving beta-turns

(2009) Hailong Fu et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

The hOGG1 Ser326Cys polymorphism and Huntington's disease

(2009) Fabio Coppedè et al.   TOXICOLOGY

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

Roles of β-turns in protein folding: From peptide models to protein engineering

(2008) Anna Marie C. Marcelino et al.   BIOPOLYMERS

Genetic Instability Caused by Loss of MutS Homologue 3 in Human Colorectal Cancer

(2008) A. C. Haugen et al.   CANCER RESEARCH

Mutagenic roles of DNA “repair” proteins in antibody diversity and disease-associated trinucleotide repeat instability

(2008) Meghan M. Slean et al.   DNA REPAIR

Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair

(2008) Hyun-Min Kim et al.   EMBO JOURNAL

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

(2008) Ella Dragileva et al.   NEUROBIOLOGY OF DISEASE

CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination

(2008) Randell T. Libby et al.   PLoS Genetics