Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

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

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

Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): A survey study

(2016) William R. Zhang et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair

(2016) Michael Ranes et al.   NUCLEIC ACIDS RESEARCH

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

(2016) Nadège Calmels et al.   Orphanet Journal of Rare Diseases

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

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

(2015) Brian T. Wilson et al.   GENETICS IN MEDICINE

The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair

(2015) Yooksil Sin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis

(2015) Masaya Kubota et al.   PEDIATRICS INTERNATIONAL

A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents

(2014) Nan Jia et al.   Nature Protocols

Cranial nerve and cauda equina contrast enhancement in Cockayne syndrome

(2014) R. Biancheri et al.   NEUROLOGY

Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage

(2014) James E. Cleaver et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Cockayne syndrome: The expanding clinical and mutational spectrum

(2013) Vincent Laugel   MECHANISMS OF AGEING AND DEVELOPMENT

From laboratory tests to functional characterisation of Cockayne syndrome

(2013) Manuela Lanzafame et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Conceptual developments in the causes of Cockayne syndrome

(2013) James E. Cleaver 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

Structure, function and regulation of CSB: A multi-talented gymnast

(2013) Robert J. Lake et al.   MECHANISMS OF AGEING AND DEVELOPMENT

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

(2012) Barbara Pascucci et al.   AGING CELL

The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells

(2012) Arnold D. Bailey et al.   DNA REPAIR

Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy

(2012) Morten Scheibye-Knudsen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

(2012) Yuka Nakazawa et al.   NATURE GENETICS

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair

(2012) Xue Zhang et al.   NATURE GENETICS

UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair

(2012) Petra Schwertman et al.   NATURE GENETICS

A comprehensive description of the severity groups in Cockayne syndrome

(2011) Valerie Natale   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Molecular Basis of CRL4DDB2/CSA Ubiquitin Ligase Architecture, Targeting, and Activation

(2011) Eric S. Fischer et al.   CELL

A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives

(2010) Yuka Nakazawa et al.   DNA REPAIR

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

A Ubiquitin-Binding Domain in Cockayne Syndrome B Required for Transcription-Coupled Nucleotide Excision Repair

(2010) Roy Anindya et al.   MOLECULAR CELL

Prenatal Diagnosis of Cockayne Syndrome Type A Based on the Identification of Two Novel Mutations in the ERCC8 Gene

(2009) Chiara Conte et al.   Genetic Testing and Molecular Biomarkers

Mutation update for theCSB/ERCC6andCSA/ERCC8genes involved in Cockayne syndrome

(2009) V. Laugel et al.   HUMAN MUTATION

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

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

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

(2009) T. Nardo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation inERCC6

(2008) Tzipora C. Falik-Zaccai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adult-Onset Neurological Degeneration in a Patient with Cockayne Syndrome and a Null Mutation in the CSB Gene

(2008) Satoru Hashimoto et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Transcription-coupled DNA repair: two decades of progress and surprises

(2008) Philip C. Hanawalt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

An Abundant Evolutionarily Conserved CSB-PiggyBac Fusion Protein Expressed in Cockayne Syndrome

(2008) John C. Newman et al.   PLoS Genetics