DNA Damage Repair in Huntington’s Disease and Other Neurodegenerative Diseases

Treating Disease at the RNA Level with Oligonucleotides

(2019) Arthur A. Levin   NEW ENGLAND JOURNAL OF MEDICINE

Ataxia‐telangiectasia: A review of clinical features and molecular pathology

(2019) Parisa Amirifar et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

(2019) Galen E.B. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription

(2019) Rui Gao et al.   eLife

FAN1 protects against repeat expansions in a Fragile X mouse model

(2018) Xiao-Nan Zhao et al.   DNA REPAIR

N6-Furfuryladenine is protective in Huntington’s disease models by signaling huntingtin phosphorylation

(2018) Laura E. Bowie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased nuclear DNA damage precedes mitochondrial dysfunction in peripheral blood mononuclear cells from Huntington’s disease patients

(2018) Georgina Askeland et al.   Scientific Reports

Ataxia-Telangiectasia Mutated Kinase in the Control of Oxidative Stress, Mitochondria, and Autophagy in Cancer: A Maestro With a Large Orchestra

(2018) Venturina Stagni et al.   Frontiers in Oncology

A Patient-Derived Cellular Model for Huntington's Disease Reveals Phenotypes at Clinically Relevant CAG Lengths

(2018) Claudia Lin-Kar Hung et al.   MOLECULAR BIOLOGY OF THE CELL

DNA Repair Signaling of Huntingtin: The Next Link Between Late-Onset Neurodegenerative Disease and Oxidative DNA Damage

(2018) Tamara Maiuri et al.   DNA AND CELL BIOLOGY

FAN1 modifies Huntington’s disease progression by stabilising the expanded HTT CAG repeat

(2018) Robert Goold et al.   HUMAN MOLECULAR GENETICS

Mitochondria as a therapeutic target for common pathologies

(2018) Michael P. Murphy et al.   NATURE REVIEWS DRUG DISCOVERY

Poly(ADP-ribose) drives pathologic α-synuclein neurodegeneration in Parkinson’s disease

(2018) Tae-In Kam et al.   SCIENCE

Crosstalk between mitochondrial dysfunction, oxidative stress, and age related neurodegenerative disease: Etiologies and therapeutic strategies

(2018) Hasnaa A. Elfawy et al.   LIFE SCIENCES

A modifier of Huntington's disease onset at the MLH1 locus

(2017) Jong-Min Lee et al.   HUMAN MOLECULAR GENETICS

A comprehensive in silico analysis of huntingtin and its interactome

(2017) Valentina Brandi et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

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

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

Neurological disorders associated with DNA strand-break processing enzymes

(2017) Bingcheng Jiang et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Sensing and Processing of DNA Interstrand Crosslinks by the Mismatch Repair Pathway

(2017) Niyo Kato et al.   Cell Reports

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

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

Novel regulators and molecular mechanisms of p53R2 and its disease relevance

(2016) E.C. Cho et al.   BIOCHIMIE

Furan oxidation based cross-linking: a new approach for the study and targeting of nucleic acid and protein interactions

(2016) L. L. G. Carrette et al.   CHEMICAL COMMUNICATIONS

PARG Inhibitors and Functional PARG Inhibition Models

(2016) Yuka Sasaki et al.   CURRENT PROTEIN & PEPTIDE SCIENCE

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

Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization

(2016) Laura F. DiGiovanni et al.   HUMAN MOLECULAR GENETICS

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

(2016) Nicolas C. Hoch et al.   NATURE

Distinct stress conditions result in aggregation of proteins with similar properties

(2016) Alan J. Weids et al.   Scientific Reports

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

(2015) Jose Bras et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2015) Jong-Min Lee et al.   CELL

Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes

(2015) Ram Madabhushi et al.   CELL

Nucleotide Salvage Deficiencies, DNA Damage and Neurodegeneration

(2015) Michael Fasullo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Protein Quality Control under Oxidative Stress Conditions

(2015) Jan-Ulrik Dahl et al.   JOURNAL OF MOLECULAR BIOLOGY

Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

(2015) Rui Gao et al.   PLoS Genetics

HMGB1 facilitates repair of mitochondrial DNA damage and extends the lifespan of mutant ataxin-1 knock-in mice

(2014) H. Ito et al.   EMBO Molecular Medicine

Interstrand DNA–DNA Cross-Link Formation Between Adenine Residues and Abasic Sites in Duplex DNA

(2014) Nathan E. Price et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Poly(ADP-ribose) polymerase-dependent energy depletion occurs through inhibition of glycolysis

(2014) S. A. Andrabi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting ATM ameliorates mutant Huntingtin toxicity in cell and animal models of Huntington's disease

(2014) X.-H. Lu et al.   Science Translational Medicine

A Neo-Substrate that Amplifies Catalytic Activity of Parkinson’s-Disease-Related Kinase PINK1

(2013) Nicholas T. Hertz et al.   CELL

A Synthetic Oligonucleotide Model for Evaluating the Oxidation and Crosslinking Propensities of Natural Furan-Modified DNA

(2013) Lieselot L. G. Carrette et al.   CHEMBIOCHEM

The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal

(2013) T. Maiuri et al.   HUMAN MOLECULAR 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

Ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor behavior in Huntington disease mice

(2012) A. Di Pardo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease

(2011) Guy Keryer et al.   JOURNAL OF CLINICAL INVESTIGATION

Compounding artefacts with uncertainty, and an amyloid cascade hypothesis that is ‘too big to fail’

(2011) Rudy J Castellani et al.   JOURNAL OF PATHOLOGY

Kinase inhibitors modulate huntingtin cell localization and toxicity

(2011) Randy Singh Atwal et al.   Nature Chemical Biology

Mitochondrial and Nuclear Cross Talk in Cell Death

(2010) Shaida A. Andrabi et al.   Annals of the New York Academy of Sciences

NAD+ Depletion Is Necessary and Sufficient forPoly(ADP-Ribose) Polymerase-1-Mediated Neuronal Death

(2010) C. C. Alano et al.   JOURNAL OF NEUROSCIENCE

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

Huntingtin Is Required for Mitotic Spindle Orientation and Mammalian Neurogenesis

(2010) Juliette D. Godin et al.   NEURON

Regional aerobic glycolysis in the human brain

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

ATM activates p53 by regulating MDM2 oligomerization and E3 processivity

(2009) Qian Cheng et al.   EMBO JOURNAL

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

Phosphorylation of Threonine 3

(2009) Charity T. Aiken et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Serines 13 and 16 Are Critical Determinants of Full-Length Human Mutant Huntingtin Induced Disease Pathogenesis in HD Mice

(2009) Xiaofeng Gu et al.   NEURON

Human MutL-complexes monitor homologous recombination independently of mismatch repair

(2008) Simone Yasmin Siehler et al.   DNA REPAIR

Huntington’s disease: revisiting the aggregation hypothesis in polyglutamine neurodegenerative diseases

(2008) Ray Truant et al.   FEBS Journal

DNA breakage and induction of DNA damage response proteins precede the appearance of visible mutant huntingtin aggregates

(2008) Jennifer Illuzzi et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Psoralen-Induced DNA Interstrand Cross-Links Block Transcription and Induce p53 in an Ataxia-Telangiectasia and Rad3-Related-Dependent Manner

(2008) F. A. Derheimer et al.   MOLECULAR PHARMACOLOGY

ATM-mediated serine 72 phosphorylation stabilizes ribonucleotide reductase small subunit p53R2 protein against MDM2 to DNA damage

(2008) L. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA