ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

Distinct DNA repair pathways cause genomic instability at alternative DNA structures

(2020) Jennifer A. McKinney et al.   Nature Communications

Cryo-EM structures of the XPF-ERCC1 endonuclease reveal how DNA-junction engagement disrupts an auto-inhibited conformation

(2020) Morgan Jones et al.   Nature Communications

Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair

(2020) Yuka Nakazawa et al.   CELL

Regulation of the RNAPII Pool Is Integral to the DNA Damage Response

(2020) Ana Tufegdžić Vidaković et al.   CELL

The cooperative action of CSB, CSA, and UVSSA target TFIIH to DNA damage-stalled RNA polymerase II

(2020) Yana van der Weegen et al.   Nature Communications

XPF-ERCC1 protects liver, kidney and blood homeostasis outside the canonical excision repair pathways

(2020) Lee Mulderrig et al.   PLoS Genetics

Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome

(2020) Angela Helfricht et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Structural basis of TFIIH activation for nucleotide excision repair

(2019) Goran Kokic et al.   Nature Communications

TULIP2: An Improved Method for the Identification of Ubiquitin E3-Specific Targets

(2019) Daniel Salas-Lloret et al.   Frontiers in Chemistry

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management

(2018) Vijaya Sathyanarayana et al.   PEDIATRIC NEPHROLOGY

Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48

(2018) Georgia Velimezi et al.   Nature Communications

The PRIDE database and related tools and resources in 2019: improving support for quantification data

(2018) Yasset Perez-Riverol et al.   NUCLEIC ACIDS RESEARCH

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

(2017) Takayasu Mori et al.   HUMAN MUTATION

The SMX DNA Repair Tri-nuclease

(2017) Haley D.M. Wyatt et al.   MOLECULAR CELL

A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation

(2017) Martijn S Luijsterburg et al.   eLife

The Perseus computational platform for comprehensive analysis of (prote)omics data

(2016) Stefka Tyanova et al.   NATURE METHODS

The MaxQuant computational platform for mass spectrometry-based shotgun proteomics

(2016) Stefka Tyanova et al.   Nature Protocols

The Fanconi anaemia pathway: new players and new functions

(2016) Raphael Ceccaldi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Elevated Urinary Levels of 8-Hydroxy-2′-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome

(2016) Daiki Kondo et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

The ERCC1 and ERCC4 (XPF) genes and gene products

(2015) Mandira Manandhar et al.   GENE

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency

(2015) Chaowan Guo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The de-ubiquitylating enzymes USP26 and USP37 regulate homologous recombination by counteracting RAP80

(2015) Dimitris Typas et al.   NUCLEIC ACIDS RESEARCH

The Fanconi Anemia DNA Repair Pathway: Structural and Functional Insights into a Complex Disorder

(2014) Helen Walden et al.   Annual Review of Biophysics

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

(2014) Daisy Klein Douwel et al.   MOLECULAR CELL

Understanding nucleotide excision repair and its roles in cancer and ageing

(2014) Jurgen A. Marteijn et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

(2013) Massimo Bogliolo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

(2013) Kazuya Kashiyama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role of Saw1 in Rad1/Rad10 complex assembly at recombination intermediates in budding yeast

(2013) Fuyang Li et al.   EMBO JOURNAL

Incidence of liver abnormalities in Fanconi anemia patients

(2012) Caroline Masserot-Lureau et al.   AMERICAN JOURNAL OF HEMATOLOGY

Shining a Light on Xeroderma Pigmentosum

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

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

Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease

(2011) Siobhán Q. Gregg et al.   DNA REPAIR

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

(2011) Chantal Stoepker et al.   NATURE GENETICS

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

(2011) Tawhida Y Abdel Ghaffar et al.   Orphanet Journal of Rare Diseases

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

Heat shock proteins: Cellular and molecular mechanisms in the central nervous system

(2010) R. Anne Stetler et al.   PROGRESS IN NEUROBIOLOGY

Mislocalization of XPF-ERCC1 Nuclease Contributes to Reduced DNA Repair in XP-F Patients

(2010) Anwaar Ahmad et al.   PLoS Genetics

Coordination of dual incision and repair synthesis in human nucleotide excision repair

(2009) Lidija Staresincic et al.   EMBO JOURNAL

The XPA-binding domain of ERCC1 Is Required for Nucleotide Excision Repair but Not Other DNA Repair Pathways

(2009) Barbara Orelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fanconi anemia and its diagnosis

(2009) Arleen D. Auerbach   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

ERCC1-XPF Endonuclease Facilitates DNA Double-Strand Break Repair

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