Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction

Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation

(2020) Mustafa N Okur et al.   NUCLEIC ACIDS RESEARCH

Senolytics (DQ) Mitigates Radiation Ulcers by Removing Senescent Cells

(2020) Huilan Wang et al.   Frontiers in Oncology

Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase

(2020) Shunlei Duan et al.   NUCLEIC ACIDS RESEARCH

SIRT6 Is Responsible for More Efficient DNA Double-Strand Break Repair in Long-Lived Species

(2019) Xiao Tian et al.   CELL

Cockayne syndrome group B deficiency reduces H3K9me3 chromatin remodeler SETDB1 and exacerbates cellular aging

(2019) Jong-Hyuk Lee et al.   NUCLEIC ACIDS RESEARCH

PARP1 regulates DNA damage-induced nucleolar-nucleoplasmic shuttling of WRN and XRCC1 in a toxicant and protein-specific manner

(2019) Sebastian Veith et al.   Scientific Reports

Genetic Signatures of Centenarians: Implications for Achieving Successful Aging

(2019) Calogero Caruso et al.   CURRENT PHARMACEUTICAL DESIGN

NAD+ homeostasis in renal health and disease

(2019) Kenneth M. Ralto et al.   Nature Reviews Nephrology

NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome

(2019) Evandro F. Fang et al.   Nature Communications

Premature cell senescence in human skin: Dual face in chronic acquired pigmentary disorders

(2019) Barbara Bellei et al.   AGEING RESEARCH REVIEWS

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence

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

Werner Syndrome Protein and DNA Replication

(2018) Shibani Mukherjee et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

AMPK activation protects cells from oxidative stress-induced senescence via autophagic flux restoration and intracellular NAD+elevation

(2016) Xiaojuan Han et al.   AGING CELL

NAD + Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair

(2016) Evandro Fei Fang et al.   Cell Metabolism

Mitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion

(2016) Jyoti Kumari et al.   JOURNAL OF CELL SCIENCE

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

Nuclear DNA damage signalling to mitochondria in ageing

(2016) Evandro Fei Fang et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA

(2016) Morten Scheibye-Knudsen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

An NAD+-dependent transcriptional program governs self-renewal and radiation resistance in glioblastoma

(2016) Amit D. Gujar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

WRN regulates pathway choice between classical and alternative non-homologous end joining

(2016) Raghavendra A. Shamanna et al.   Nature Communications

RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks

(2016) Huiming Lu et al.   Cell Reports

Human RecQ Helicases in DNA Repair, Recombination, and Replication

(2014) Deborah L. Croteau et al.   Annual Review of Biochemistry

RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex

(2014) Raghavendra A. Shamanna et al.   CARCINOGENESIS

A High-Fat Diet and NAD + Activate Sirt1 to Rescue Premature Aging in Cockayne Syndrome

(2014) Morten Scheibye-Knudsen et al.   Cell Metabolism

Activation of SIRT3 by the NAD+ Precursor Nicotinamide Riboside Protects from Noise-Induced Hearing Loss

(2014) Kevin D. Brown et al.   Cell Metabolism

An Essential Role for Senescent Cells in Optimal Wound Healing through Secretion of PDGF-AA

(2014) Marco Demaria et al.   DEVELOPMENTAL CELL

Mitochondrial dysfunction: a neglected component of skin diseases

(2014) René G. Feichtinger et al.   EXPERIMENTAL DERMATOLOGY

Nucleotide Excision Repair-dependent DNA Double-strand Break Formation and ATM Signaling Activation in Mammalian Quiescent Cells

(2014) Mitsuo Wakasugi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Senescence induced by RECQL4 dysfunction contributes to Rothmund–Thomson syndrome features in mice

(2014) H Lu et al.   Cell Death & Disease

Knock-In Reporter Mice Demonstrate that DNA Repair by Non-homologous End Joining Declines with Age

(2014) Amita Vaidya et al.   PLoS Genetics

RECQL4 and p53 potentiate the activity of polymerase γ and maintain the integrity of the human mitochondrial genome

(2013) Shruti Gupta et al.   CARCINOGENESIS

Cockayne syndrome: The expanding clinical and mutational spectrum

(2013) Vincent Laugel   MECHANISMS OF AGEING AND DEVELOPMENT

Mitochondrial deficiency in Cockayne syndrome

(2013) Morten Scheibye-Knudsen et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Mitochondrial dysfunction and the inflammatory response

(2013) María J. López-Armada et al.   MITOCHONDRION

Nucleotide Excision Repair in Eukaryotes

(2013) O. D. Scharer   Cold Spring Harbor Perspectives in Biology

RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity

(2012) Deborah L. Croteau et al.   AGING CELL

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

(2012) Barbara Pascucci et al.   AGING CELL

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

(2012) Alessia Indrieri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Werner syndrome gene product (WRN): a repressor of hypoxia-inducible factor-1 activity

(2012) Adam Labbé et al.   EXPERIMENTAL CELL RESEARCH

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress

(2012) S. De et al.   JOURNAL OF CELL SCIENCE

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

Nucleolin Inhibits G4 Oligonucleotide Unwinding by Werner Helicase

(2012) Fred E. Indig et al.   PLoS One

RECQL4 in genomic instability and aging

(2012) Deborah L. Croteau et al.   TRENDS IN GENETICS

BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency

(2012) A. M. Lynn et al.   ANNALS OF CLINICAL BIOCHEMISTRY

A comprehensive description of the severity groups in Cockayne syndrome

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

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

Oxidative stress induces senescence in human mesenchymal stem cells

(2011) Anita Brandl et al.   EXPERIMENTAL CELL RESEARCH

The role of mitochondria in insulin resistance and type 2 diabetes mellitus

(2011) Julia Szendroedi et al.   Nature Reviews Endocrinology

The involvement of human RECQL4 in DNA double-strand break repair

(2010) Dharmendra Kumar Singh et al.   AGING CELL

The Senescence-Associated Secretory Phenotype: The Dark Side of Tumor Suppression

(2010) Jean-Philippe Coppé et al.   Annual Review of Pathology-Mechanisms of Disease

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

Age-associated modifications of Base Excision Repair activities in human skin fibroblast extracts

(2010) Bénédicte Pons et al.   MECHANISMS OF AGEING AND DEVELOPMENT

The matricellular protein CCN1 induces fibroblast senescence and restricts fibrosis in cutaneous wound healing

(2010) Joon-Il Jun et al.   NATURE CELL BIOLOGY

Direct and indirect roles of RECQL4 in modulating base excision repair capacity

(2009) Shepherd H. Schurman et al.   HUMAN MOLECULAR GENETICS

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

(2009) V. Laugel et al.   HUMAN MUTATION

The DNA-damage response in human biology and disease

(2009) Stephen P. Jackson et al.   NATURE

Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

(2008) Anita Maasz et al.   CURRENT MEDICINAL CHEMISTRY

The mutation spectrum in RECQL4 diseases

(2008) H Annika Siitonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

(2008) Meltem Muftuoglu et al.   HUMAN GENETICS

Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents

(2008) Weidong Jin et al.   HUMAN GENETICS

Fibroblast Dysfunction Is a Key Factor in the Non-Healing of Chronic Venous Leg Ulcers

(2008) Ivan B. Wall et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY