Transcription blockage by DNA damage in nucleotide excision repair-related neurological dysfunctions

Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations

(2020) Susan E. Tsutakawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

P-TEFb Activation by RBM7 Shapes a Pro-survival Transcriptional Response to Genotoxic Stress

(2019) Andrii Bugai et al.   MOLECULAR CELL

Astrocyte senescence: Evidence and significance

(2019) Justin Cohen et al.   AGING CELL

High levels of oxidatively generated DNA damage 8,5’-cyclo-2’-deoxyadenosine accumulate in the brain tissues of xeroderma pigmentosum group A gene-knockout mice

(2019) Toshio Mori et al.   DNA REPAIR

Transcription-mediated replication hindrance: a major driver of genome instability

(2019) Belén Gómez-González et al.   GENES & DEVELOPMENT

Chemical Basis of Reactive Oxygen Species Reactivity and Involvement in Neurodegenerative Diseases

(2019) Fabrice Collin   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Oxidative Stress: A Key Modulator in Neurodegenerative Diseases

(2019) Anju Singh et al.   MOLECULES

Senolytic therapy alleviates Aβ-associated oligodendrocyte progenitor cell senescence and cognitive deficits in an Alzheimer’s disease model

(2019) Peisu Zhang et al.   NATURE NEUROSCIENCE

Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions

(2019) Julia K. Nussbacher et al.   NEURON

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

(2019) Rui Gao et al.   eLife

Non-canonical DNA/RNA structures during Transcription-Coupled Double-Strand Break Repair: Roadblocks or Bona fide repair intermediates?

(2019) Nadine Puget et al.   DNA REPAIR

DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms

(2019) Arwa A. Abugable et al.   DNA REPAIR

XPD/ERCC2 mutations interfere in cellular responses to oxidative stress

(2019) Leticia K Lerner et al.   MUTAGENESIS

The DNA damage response to transcription stress

(2019) Hannes Lans et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ageing as a risk factor for neurodegenerative disease

(2019) Yujun Hou et al.   Nature Reviews Neurology

Purine DNA Lesions at Different Oxygen Concentration in DNA Repair-Impaired Human Cells (EUE-siXPA)

(2019) Krokidis et al.   Cells

Nuclear Genomic Instability and Aging

(2018) Laura J. Niedernhofer et al.   Annual Review of Biochemistry

Role of mitochondrial dysfunction in the pathophysiology of DNA repair disorders

(2018) Mateus Prates Mori et al.   CELL BIOLOGY INTERNATIONAL

ERCC1-deficient cells and mice are hypersensitive to lipid peroxidation

(2018) Jolanta Czerwińska et al.   FREE RADICAL BIOLOGY AND MEDICINE

Cellular senescence in brain aging and neurodegenerative diseases: evidence and perspectives

(2018) Darren J. Baker et al.   JOURNAL OF CLINICAL INVESTIGATION

The transcription-coupled DNA repair-initiating protein CSB promotes XRCC1 recruitment to oxidative DNA damage

(2018) Hervé Menoni et al.   NUCLEIC ACIDS RESEARCH

O6-methylguanine–induced transcriptional mutagenesis reduces p53 tumor-suppressor function

(2018) Monika Ezerskyte et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Cellular Response to Transcription-Blocking DNA Damage

(2018) Lea H. Gregersen et al.   TRENDS IN BIOCHEMICAL SCIENCES

Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain

(2018) Akihide Takeuchi et al.   Cell Reports

Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome

(2018) Marius Costel Alupei et al.   Cell Reports

What happens at the lesion does not stay at the lesion: Transcription-coupled nucleotide excision repair and the effects of DNA damage on transcription in cis and trans

(2018) Marit E. Geijer et al.   DNA REPAIR

Structural basis of DNA lesion recognition for eukaryotic transcription-coupled nucleotide excision repair

(2018) Wei Wang et al.   DNA REPAIR

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence

(2018) Sonia Cordisco et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

OUP accepted manuscript

(2018)   JOURNAL OF RADIATION RESEARCH

Replacement of microglia in the aged brain reverses cognitive, synaptic, and neuronal deficits in mice

(2018) Monica R. P. Elmore et al.   AGING CELL

ROS-induced R loops trigger a transcription-coupled but BRCA1/2-independent homologous recombination pathway through CSB

(2018) Yaqun Teng et al.   Nature Communications

Phenotypic and functional differences between senescent and aged murine microglia

(2018) Milan R. Stojiljkovic et al.   NEUROBIOLOGY OF AGING

Formation and repair of oxidatively generated damage in cellular DNA

(2017) Jean Cadet et al.   FREE RADICAL BIOLOGY AND MEDICINE

Lipid peroxidation in face of DNA damage, DNA repair and other cellular processes

(2017) Barbara Tudek et al.   FREE RADICAL BIOLOGY AND MEDICINE

Sunlight damage to cellular DNA: Focus on oxidatively generated lesions

(2017) André Passaglia Schuch et al.   FREE RADICAL BIOLOGY AND MEDICINE

A never-ending story: the steadily growing family of the FA and FA-like genes

(2017) Anna Gueiderikh et al.   GENETICS AND MOLECULAR BIOLOGY

RNA polymerase II is released from the DNA template during transcription-coupled repair in mammalian cells

(2017) Yi-Ying Chiou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transcription-Coupled DNA Double-Strand Break Repair: Active Genes Need Special Care

(2017) Aline Marnef et al.   JOURNAL OF MOLECULAR BIOLOGY

DNA damage in the oligodendrocyte lineage and its role in brain aging

(2017) Kai-Hei Tse et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Cockayne’s Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation

(2017) Alexey Epanchintsev et al.   MOLECULAR CELL

Neurotoxic reactive astrocytes are induced by activated microglia

(2017) Shane A. Liddelow et al.   NATURE

DNA–RNA hybrids: the risks of DNA breakage during transcription

(2017) Andrés Aguilera et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

U1 snRNP telescripting regulates a size–function-stratified human genome

(2017) Jung-Min Oh et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Oxidative stress and mitochondrial damage in the pathogenesis of ALS: New perspectives

(2017) F. Bozzo et al.   NEUROSCIENCE LETTERS

Identification of HSP90 inhibitors as a novel class of senolytics

(2017) Heike Fuhrmann-Stroissnigg et al.   Nature Communications

Global unleashing of transcription elongation waves in response to genotoxic stress restricts somatic mutation rate

(2017) Matthieu D. Lavigne et al.   Nature Communications

DNA–RNA hybrids: the risks of DNA breakage during transcription

(2017) Andrés Aguilera et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

U1 snRNP telescripting regulates a size–function-stratified human genome

(2017) Jung-Min Oh et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Understanding Tissue-Specific Gene Regulation

(2017) Abhijeet Rajendra Sonawane et al.   Cell Reports

Major Roles for Pyrimidine Dimers, Nucleotide Excision Repair, and ATR in the Alternative Splicing Response to UV Irradiation

(2017) Manuel J. Muñoz et al.   Cell Reports

Coupled Proliferation and Apoptosis Maintain the Rapid Turnover of Microglia in the Adult Brain

(2017) Katharine Askew et al.   Cell Reports

Transcription as a Threat to Genome Integrity

(2016) Hélène Gaillard et al.   Annual Review of Biochemistry

Conflict Resolution in the Genome: How Transcription and Replication Make It Work

(2016) Stephan Hamperl et al.   CELL

Microglia: Senescence Impairs Clearance of Myelin Debris

(2016) Peter Thériault et al.   CURRENT BIOLOGY

XPA: A key scaffold for human nucleotide excision repair

(2016) Norie Sugitani et al.   DNA REPAIR

Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony

(2016) Alexandre T. Vessoni et al.   HUMAN MOLECULAR GENETICS

Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice

(2016) W. P. Vermeij et al.   NATURE

Transcription–replication conflicts: how they occur and how they are resolved

(2016) Tatiana García-Muse et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Role of ROS and RNS Sources in Physiological and Pathological Conditions

(2016) Sergio Di Meo et al.   Oxidative Medicine and Cellular Longevity

Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency

(2016) Kate S. Reid-Bayliss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Vascular Cell Senescence Contributes to Blood–Brain Barrier Breakdown

(2016) Yu Yamazaki et al.   STROKE

Classical non-homologous end-joining pathway utilizes nascent RNA for error-free double-strand break repair of transcribed genes

(2016) Anirban Chakraborty et al.   Nature Communications

Oxidative stress, mitochondrial dysfunction and neurodegenerative diseases; a mechanistic insight

(2015) Aashiq Hussain Bhat et al.   BIOMEDICINE & PHARMACOTHERAPY

Repair synthesis step involving ERCC1-XPF participates in DNA repair of the Top1-DNA damage complex

(2015) Chiaki Takahata et al.   CARCINOGENESIS

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

(2015) Ram Madabhushi et al.   CELL

DNA damage mediated transcription arrest: Step back to go forward

(2015) Leon Mullenders   DNA REPAIR

Nucleotide excision repair in humans

(2015) Graciela Spivak   DNA REPAIR

Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation

(2015) N. L. Batenburg et al.   EMBO JOURNAL

Genome-wide analysis of human global and transcription-coupled excision repair of UV damage at single-nucleotide resolution

(2015) Jinchuan Hu et al.   GENES & DEVELOPMENT

The core spliceosome as target and effector of non-canonical ATM signalling

(2015) Maria Tresini et al.   NATURE

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

(2015) Harrison W. Gabel et al.   NATURE

R loops: new modulators of genome dynamics and function

(2015) José M. Santos-Pereira et al.   NATURE REVIEWS GENETICS

Gene Length Matters in Neurons

(2015) Mark J. Zylka et al.   NEURON

DNA repair and recovery of RNA synthesis following exposure to ultraviolet light are delayed in long genes

(2015) Leonardo C. Andrade-Lima et al.   NUCLEIC ACIDS RESEARCH

DNA polymerase β deficiency leads to neurodegeneration and exacerbates Alzheimer disease phenotypes

(2015) Peter Sykora et al.   NUCLEIC ACIDS RESEARCH

Transcription-Associated Mutagenesis

(2014) Sue Jinks-Robertson et al.   Annual Review of Genetics

Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth

(2014) Sylvia Koch et al.   CELL CYCLE

Functional interplay between ATM/ATR-mediated DNA damage response and DNA repair pathways in oxidative stress

(2014) Shan Yan et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

DNA repair diseases: what do they tell us about cancer and aging?

(2014) Carlos FM Menck et al.   GENETICS AND MOLECULAR BIOLOGY

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

(2014) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Transcription-Coupled Nucleotide Excision Repair Factors Promote R-Loop-Induced Genome Instability

(2014) Julie Sollier et al.   MOLECULAR CELL

XPF-ERCC1 Acts in Unhooking DNA Interstrand Crosslinks in Cooperation with FANCD2 and FANCP/SLX4

(2014) Daisy Klein Douwel et al.   MOLECULAR CELL

Priming of microglia in a DNA-repair deficient model of accelerated aging

(2014) Divya D.A. Raj et al.   NEUROBIOLOGY OF AGING

DNA Damage and Its Links to Neurodegeneration

(2014) Ram Madabhushi et al.   NEURON

Microglial p53 activation is detrimental to neuronal synapses during activation-induced inflammation: Implications for neurodegeneration

(2014) Joseph Jebelli et al.   NEUROSCIENCE LETTERS

Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease

(2014) Yuming Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA-binding proteins in neurological diseases

(2014) HuaLin Zhou et al.   Science China-Life Sciences

The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis

(2014) F Ciaffardini et al.   Cell Death & Disease

UVB Induces a Genome-Wide Acting Negative Regulatory Mechanism That Operates at the Level of Transcription Initiation in Human Cells

(2014) Ákos Gyenis et al.   PLoS Genetics

The Hallmarks of Aging

(2013) Carlos López-Otín et al.   CELL

Transcription-Associated Genome Instability

(2013) Hélène Gaillard et al.   CHEMICAL REVIEWS

Blinded by the UV light: How the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease

(2013) P.J. Brooks   DNA REPAIR

Nucleotide excision repair activity on DNA damage induced by photoactivated methylene blue

(2013) Carolina Maria Berra et al.   FREE RADICAL BIOLOGY AND MEDICINE

Base excision repair in the mammalian brain: Implication for age related neurodegeneration

(2013) Peter Sykora et al.   MECHANISMS OF AGEING AND DEVELOPMENT

The role of CSA and CSB protein in the oxidative stress response

(2013) Mariarosaria D’Errico et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

Topoisomerases facilitate transcription of long genes linked to autism

(2013) Ian F. King et al.   NATURE

Accelerated gene evolution through replication–transcription conflicts

(2013) Sandip Paul et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Physiologic brain activity causes DNA double-strand breaks in neurons, with exacerbation by amyloid-β

(2013) Elsa Suberbielle et al.   NATURE NEUROSCIENCE

Modulation of DNA base excision repair during neuronal differentiation

(2013) Peter Sykora et al.   NEUROBIOLOGY OF AGING

Comet-FISH with strand-specific probes reveals transcription-coupled repair of 8-oxoGuanine in human cells

(2013) Jia Guo et al.   NUCLEIC ACIDS RESEARCH

Versatile and Simple Approach to Determine Astrocyte Territories in Mouse Neocortex and Hippocampus

(2013) Antje Grosche et al.   PLoS One

Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress

(2013) U. Kristensen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Base Excision Repair

(2013) H. E. Krokan et al.   Cold Spring Harbor Perspectives in Biology

An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress

(2012) Barbara Pascucci et al.   AGING CELL

Postmitotic neurons develop a p21-dependent senescence-like phenotype driven by a DNA damage response

(2012) Diana Jurk et al.   AGING CELL

Pathways for repairing and tolerating the spectrum of oxidative DNA lesions

(2012) Brian R. Berquist et al.   CANCER LETTERS

Nucleotide Excision DNA Repair Is Associated With Age-Related Vascular Dysfunction

(2012) Matej Durik et al.   CIRCULATION

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities

(2012) Shinichi Moriwaki et al.   EXPERIMENTAL DERMATOLOGY

Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome

(2012) Luciana Nogueira de Sousa Andrade et al.   HUMAN MOLECULAR GENETICS

NovelXPG(ERCC5) Mutations AffectDNARepair and Cell Survival after Ultraviolet but not Oxidative Stress

(2012) Daniela T. Soltys et al.   HUMAN MUTATION

Shining a Light on Xeroderma Pigmentosum

(2012) John J. DiGiovanna et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Age-dependent decline of DNA base excision repair activity in rat cortical neurons

(2012) Umakanta Swain et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Endogenous formation and repair of oxidatively induced G[8-5 m]T intrastrand cross-link lesion

(2012) Jin Wang et al.   NUCLEIC ACIDS RESEARCH

Nucleotide excision repair: new tricks with old bricks

(2012) Irene Kamileri et al.   TRENDS IN GENETICS

The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome

(2011) Kelly S. Trego et al.   CELL CYCLE

XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase

(2011) Jill O. Fuss et al.   DNA REPAIR

Extensive and coordinated transcription of noncoding RNAs within cell-cycle promoters

(2011) Tiffany Hung et al.   NATURE GENETICS

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Role of p53 in Neurodegenerative Diseases

(2011) J. Robert Chang et al.   Neurodegenerative Diseases

Intronic delay is essential for oscillatory expression in the segmentation clock

(2011) Y. Takashima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair

(2011) Michael Weinfeld et al.   TRENDS IN BIOCHEMICAL SCIENCES

Age-Related Neuronal Degeneration: Complementary Roles of Nucleotide Excision Repair and Transcription-Coupled Repair in Preventing Neuropathology

(2011) Dick Jaarsma et al.   PLoS Genetics

Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice

(2010) Monique C. de Waard et al.   ACTA NEUROPATHOLOGICA

PTEN Loss Compromises Homologous Recombination Repair in Astrocytes: Implications for Glioblastoma Therapy with Temozolomide or Poly(ADP-Ribose) Polymerase Inhibitors

(2010) B. McEllin et al.   CANCER RESEARCH

A Large Intergenic Noncoding RNA Induced by p53 Mediates Global Gene Repression in the p53 Response

(2010) Maite Huarte et al.   CELL

Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane

(2010) Maria D. Aamann et al.   FASEB JOURNAL

Preferential Repair of Oxidized Base Damage in the Transcribed Genes of Mammalian Cells

(2010) Dibyendu Banerjee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging

(2010) York Kamenisch et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Neurotoxic mechanisms of DNA damage: focus on transcriptional inhibition

(2010) Michal Hetman et al.   JOURNAL OF NEUROCHEMISTRY

Evidence that Transcript Cleavage Is Essential for RNA Polymerase II Transcription and Cell Viability

(2010) Stefan Sigurdsson et al.   MOLECULAR CELL

Cell cycle dynamics of NG2 cells in the postnatal and ageing brain

(2010) Konstantina Psachoulia et al.   Neuron Glia Biology

Oligodendrocytes: biology and pathology

(2009) Monika Bradl et al.   ACTA NEUROPATHOLOGICA

Age-related myelin dynamics revealed by increased oligodendrogenesis and short internodes

(2009) Jurate Lasiene et al.   AGING CELL

DNA Damage Regulates Alternative Splicing through Inhibition of RNA Polymerase II Elongation

(2009) Manuel J. Muñoz et al.   CELL

Exocyclic DNA Adducts as Biomarkers of Lipid Oxidation and Predictors of Disease. Challenges in Developing Sensitive and Specific Methods for Clinical Studies

(2009) Marisa H. G. Medeiros   CHEMICAL RESEARCH IN TOXICOLOGY

Trichothiodystrophy: From basic mechanisms to clinical implications

(2009) M. Stefanini et al.   DNA REPAIR

Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

(2009) Karen M. Weidenheim et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Toll-like receptor 2 and poly(ADP-ribose) polymerase 1 promote central nervous system neuroinflammation in progressive EAE

(2009) Mauricio F Farez et al.   NATURE IMMUNOLOGY

Nucleotide excision repair and neurological diseases

(2008) Thierry Nouspikel   DNA REPAIR

Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?

(2008) P.J. Brooks et al.   DNA REPAIR

Accumulation of nuclear DNA damage or neuron loss: Molecular basis for a new approach to understanding selective neuronal vulnerability in neurodegenerative diseases

(2008) Ivona Brasnjevic et al.   DNA REPAIR

Accumulation of (5′S)-8,5′-cyclo-2′-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice

(2008) Güldal Kirkali et al.   DNA REPAIR

DNA Adducts with Lipid Peroxidation Products

(2008) Ian A. Blair   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging

(2008) Tinna Stevnsner et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Tissue-specific accelerated aging in nucleotide excision repair deficiency

(2008) Laura J. Niedernhofer   MECHANISMS OF AGEING AND DEVELOPMENT

ERCC1-XPF Endonuclease Facilitates DNA Double-Strand Break Repair

(2008) A. Ahmad et al.   MOLECULAR AND CELLULAR BIOLOGY