(Q35034398)

5 August 2017

title

Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches (English)

1 reference

5 August 2017

0 references

1 reference

Ricardo Mouro Pinto

1

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Guo-Min Li

object named as

Guo-Min Li

13

0 references

Mark Joseph Daly

15

object named as

Mark J Daly

1 reference

5 August 2017

10

Tammy Gillis

1 reference

5 August 2017

Ella Dragileva

2

1 reference

5 August 2017

Andrew Kirby

3

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5 August 2017

Alejandro Lloret

4

1 reference

5 August 2017

Edith Lopez

5

1 reference

5 August 2017

Jason St Claire

6

1 reference

5 August 2017

Gagan B Panigrahi

7

1 reference

5 August 2017

Caixia Hou

8

1 reference

5 August 2017

Kim Holloway

9

1 reference

5 August 2017

Jolene R Guide

11

1 reference

5 August 2017

Paula E Cohen

12

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5 August 2017

Christopher E Pearson

14

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5 August 2017

Vanessa C Wheeler

16

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5 August 2017

publication date

31 October 2013

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5 August 2017

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5 August 2017

volume

9

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5 August 2017

issue

10

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5 August 2017

page(s)

e1003930

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Creative Commons Attribution 4.0 International

5 August 2017

copyright license

start time

31 October 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice

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Structural, molecular and cellular functions of MSH2 and MSH6 during DNA mismatch repair, damage signaling and other noncanonical activities

8 July 2018

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Human mismatch repair protein hMutLα is required to repair short slipped-DNAs of trinucleotide repeats

8 July 2018

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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues

8 July 2018

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Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice

8 July 2018

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Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice

8 July 2018

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The nucleotide sequence, DNA damage location, and protein stoichiometry influence the base excision repair outcome at CAG/CTG repeats

8 July 2018

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Mammalian mismatch repair: error-free or error-prone?

8 July 2018

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

8 July 2018

1 reference

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

8 July 2018

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

8 July 2018

1 reference

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Reorganizing the protein space at the Universal Protein Resource (UniProt)

8 July 2018

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Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

8 July 2018

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Conformational trapping of Mismatch Recognition Complex MSH2/MSH3 on repair-resistant DNA loops

8 July 2018

1 reference

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

8 July 2018

1 reference

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Sequence-based characterization of structural variation in the mouse genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Mouse genomic variation and its effect on phenotypes and gene regulation

8 July 2018

1 reference

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

8 July 2018

1 reference

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8 July 2018

Wot the ‘L—Does MutL do?

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

8 July 2018

1 reference

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Fine mapping in 94 inbred mouse strains using a high-density haplotype resource

8 July 2018

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A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

A novel approach to investigate tissue-specific trinucleotide repeat instability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

MutL: conducting the cell's response to mismatched and misaligned DNA.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Huntingtin facilitates polycomb repressive complex 2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Huntington's disease: the case for genetic modifiers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Coordination between polymerase beta and FEN1 can modulate CAG repeat expansion.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Diverse effects of individual mismatch repair components on transcription-induced CAG repeat instability in human cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Evidence that hMLH3 functions primarily in meiosis and in hMSH2-hMSH3 mismatch repair.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

DNA instability in postmitotic neurons

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

A universal mechanism ties genotype to phenotype in trinucleotide diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Humanizing mismatch repair in yeast: towards effective identification of hereditary non-polyposis colorectal cancer alleles

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Factors associated with HD CAG repeat instability in Huntington disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Reconstitution of 5'-directed human mismatch repair in a purified system

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Strategies for mapping and cloning quantitative trait genes in rodents

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Novel and diverse functions of the DNA mismatch repair family in mammalian meiosis and recombination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

CTG repeat instability and size variation timing in DNA repair-deficient mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Mouse models for human DNA mismatch-repair gene defects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Meiotic arrest and aneuploidy in MLH3-deficient mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

ATR and ATRIP: partners in checkpoint signaling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Differential ATP binding and intrinsic ATP hydrolysis by amino-terminal domains of the yeast Mlh1 and Pms1 proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

A new mathematical model for relative quantification in real-time RT-PCR

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Role of Saccharomyces cerevisiae Msh2 and Msh3 repair proteins in double-strand break-induced recombination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Second pathway for completion of human DNA base excision-repair: reconstitution with purified proteins and requirement for DNase IV (FEN1).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Meiotic pachytene arrest in MLH1-deficient mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Trinucleotide repeat length instability and age of onset in Huntington's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Mapping mendelian factors underlying quantitative traits using RFLP linkage maps

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3814320

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Somatic expansion of the (CAG)n repeat in Huntington disease brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Endonucleolytic function of MutLalpha in human mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Aberrant protein expression and frequent allelic loss of MSH3 in colorectal cancer with low-level microsatellite instability

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Resolution of quantitative traits into Mendelian factors by using a complete linkage map of restriction fragment length polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003930

Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases

21 January 2018

1 reference

12 December 2020

Noncanonical Mismatch Repair as a Source of Genomic Instability in Human Cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

12 December 2020

Accuracy of mapping quantitative trait loci in autogamous species

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1003930

Identifiers

DOI

1 reference

5 August 2017

1 reference

5 August 2017

1 reference