Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders

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

Sustained expression ofFMR1mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27

(2016) Daman Kumari et al.   HUMAN MOLECULAR GENETICS

Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency

(2016) Carola Conca Dioguardi et al.   MOLECULAR HUMAN REPRODUCTION

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

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

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

(2015) Jong-Min Lee et al.   CELL

Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders

(2015) Xiao-Nan Zhao et al.   HUMAN MOLECULAR GENETICS

The Transcription-Coupled Repair Protein ERCC6/CSB Also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation

(2015) Xiao-Nan Zhao et al.   HUMAN MUTATION

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

(2015) Chul-Yong Park et al.   Cell 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

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

(2015) Helen Budworth et al.   PLoS Genetics

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

(2014) Sarah L. Nolin et al.   GENETICS IN MEDICINE

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

Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome

(2014) Dmitry Yudkin et al.   HUMAN MOLECULAR GENETICS

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

Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation

(2014) Jeannine Gerhardt et al.   JOURNAL OF CELL BIOLOGY

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

(2014) Carolyn M Yrigollen et al.   Journal of Neurodevelopmental Disorders

To Switch or Not to Switch: At the Origin of Repeat Expansion Disease

(2014) Ekaterina V. Mirkin et al.   MOLECULAR CELL

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

(2014) D. Colak et al.   SCIENCE

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

(2014) Matthias Groh et al.   PLoS Genetics

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

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

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

(2014) Michal Avitzour et al.   Stem Cell Reports

The Mismatch Repair Protein MSH2 is Rate Limiting for Repeat Expansion in a Fragile X Premutation Mouse Model

(2013) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders

(2013) Xiao-Nan Zhao et al.   HUMAN MUTATION

The DNA Replication Program Is Altered at the FMR1 Locus in Fragile X Embryonic Stem Cells

(2013) Jeannine Gerhardt et al.   MOLECULAR CELL

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

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

(2012) Carolyn M. Yrigollen et al.   GENETICS IN MEDICINE

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

(2012) L. Mollersen et al.   HUMAN MOLECULAR GENETICS

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

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

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion in Human Cells

(2012) Anasheh Halabi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MutSβ and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells

(2012) Anne-Marie M. Gannon et al.   NUCLEIC ACIDS RESEARCH

Incidence and persistence of 8-oxo-7,8-dihydroguanine within a hairpin intermediate exacerbates a toxic oxidation cycle associated with trinucleotide repeat expansion

(2011) Daniel A. Jarem et al.   DNA REPAIR

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Fragile X analysis of 1112 prenatal samples from 1991 to 2010

(2011) Sarah L. Nolin et al.   PRENATAL DIAGNOSIS

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

(2010) Catherine Ross-Inta et al.   BIOCHEMICAL JOURNAL

CGG repeats associated with fragile X chromosome form left-handed Z-DNA structure

(2010) Daniel Renčiuk et al.   BIOPOLYMERS

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

(2010) Ali Entezam et al.   HUMAN MUTATION

An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

(2010) Liangjing Chen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Cockayne Syndrome Group B Protein Stimulates Repair of Formamidopyrimidines by NEIL1 DNA Glycosylase

(2009) Meltem Muftuoglu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility

(2009) Irina Voineagu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice

(2009) A. Entezam et al.   NUCLEIC ACIDS RESEARCH

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

DNA instability in postmitotic neurons

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