Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Year: 2014
Type: article
Study design: Case Report
Source: Nature Genetics
DOI: 10.1038/ng.3103
Authors: Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe C H Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon von Ameln, Josef Högel, Marina Degoricija, Regina Fertig, Martin D Burkhalter, Kay Hofmann, Holger Thiele, Janine Altmüller, Gudrun Nürnberg, Peter Nürnberg, Melanie Bahlo, George M Martin, Cora M Aalfs, Junko Oshima, Janos Terzic, David J Amor, Ivan Dikic, Kristijan Ramadan, Christian Kubisch
Institutions: Universität Ulm, University Medical Center Hamburg-Eppendorf, Cancer Research UK, University of Oxford, CRUK/MRC Oxford Institute for Radiation Oncology, Medical Research Council, University of Zurich, The University of Melbourne, Murdoch Children's Research Institute, University of Split, Goethe University Frankfurt, Walter and Eliza Hall Institute of Medical Research, Hospital Universitario de Canarias, Victorian Clinical Genetics Services, Royal Children's Hospital, Austin Health, Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), University of Cologne, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, University of Washington, Amsterdam University Medical Centers
Language: English
Topic: DNA Repair Mechanisms
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
Awards: International Registry of Werner Syndrome, International Registry of Werner Syndrome, G4566826716, Molecular insights into ubiquitin remodelling factor p97(VCP) in DNA damage response and genome stability, Molecular insight of the ubiquitin remodelling factor p97/VCP and K48-ubiquitin signal in genome stability, Nonsense-mediated decay array analysis of atypical Werner syndrome
OpenAlex ID: W1978753758