Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay
Year: 2025
Type: article
Language: en
Topic: DNA Repair Mechanisms
Authors and affiliations:
raw_author_name: Søren H Hough
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK
raw_author_name: Satpal S Jhujh
raw_affiliation_strings: Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
raw_author_name: Samah W Awwad
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK
raw_author_name: Oliver E Lewis
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK
raw_author_name: Simon Lam
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK
raw_author_name: John C Thomas
raw_affiliation_strings: The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK
raw_author_name: Thorsten Mosler
raw_affiliation_strings: Institute of Molecular Biology (IMB), Chromatin Biology & Proteomics, Mainz, Germany
raw_author_name: Aldo Bader
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK
raw_author_name: Lauren Bartik
raw_affiliation_strings: Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA
Kansas City School of Medicine, University of Missouri, Kansas City, MO, USA
raw_author_name: Shane McKee
raw_affiliation_strings: Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, BT9 7AB, UK
raw_author_name: Shivarajan Amudhavalli
raw_affiliation_strings: Department of Pathology & Genetics, Children's Mercy Hospital, Kansas City, MO, USA
Kansas City School of Medicine, University of Missouri, Kansas City, MO, USA
raw_author_name: Estelle Colin
raw_affiliation_strings: Service de Génétique Médicale, CHU d'Angers, Angers, France
Université Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France
raw_author_name: Nadirah Damseh
raw_affiliation_strings: Department of Pediatrics, Makassed Hospital and Al-Quds University, East Jerusalem, Palestine
raw_author_name: Emma Clement
raw_affiliation_strings: Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
raw_author_name: Pilar Cacheiro
raw_affiliation_strings: William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK
raw_author_name: Anirban Majumdar
raw_affiliation_strings: Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK
raw_author_name: Damian Smedley
raw_affiliation_strings: William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK
raw_author_name: Joël Fluss
raw_affiliation_strings: Pediatric Neurology Unit, University Children's Hospital Geneva, Geneva, Switzerland
raw_author_name: Rosalinda Giannini
raw_affiliation_strings: Division of Medical Genetics, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland
raw_author_name: Isabelle Thiffault
raw_affiliation_strings: Department of Pathology & Genetics, Children's Mercy Hospital, Kansas City, MO, USA
Faculty of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA
Genomic Medicine Center, Children's Mercy Hospital and Research Institute, Kansas City, MO, USA
raw_author_name: Guido Zagnoli Vieira
raw_affiliation_strings: The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK
raw_author_name: Rimma Belotserkovskaya
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK
raw_author_name: Stephen J Smerdon
raw_affiliation_strings: Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
raw_author_name: Petra Beli
raw_affiliation_strings: Institute of Developmental Biology and Neurobiology (IDN), Johannes Gutenberg-Universität, Mainz, Germany
Institute of Molecular Biology (IMB), Chromatin Biology & Proteomics, Mainz, Germany
raw_author_name: Yaron Galanty
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK. yaron.galanty@cruk.cam.ac.uk
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK. yaron.galanty@cruk.cam.ac.uk
raw_author_name: Christopher J Carnie
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK. christopherjames.carnie@med.uni-heidelberg.de
Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany. christopherjames.carnie@med.uni-heidelberg.de
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany. christopherjames.carnie@med.uni-heidelberg.de
Molecular Medicine Partnership Unit (MMPU), Heidelberg University and European Molecular Biology Laboratory (EMBL), Heidelberg, Germany. christopherjames.carnie@med.uni-heidelberg.de
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK. christopherjames.carnie@med.uni-heidelberg.de
raw_author_name: Grant S Stewart
raw_affiliation_strings: Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. g.s.stewart@bham.ac.uk
raw_author_name: Stephen P Jackson
raw_affiliation_strings: Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK. steve.jackson@cruk.cam.ac.uk
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK. steve.jackson@cruk.cam.ac.uk