CANVAS causing AAGGG repeat expansions cause tissue-specific reduction in RFC1 expression and increase sensitivity to DNA damage

Riccardo Curró(National Hospital for Neurology and Neurosurgery), Andrea Cortese(University of Pavia), Simon A. Lowe(National Hospital for Neurology and Neurosurgery), Amy R. Hicks(National Hospital for Neurology and Neurosurgery), Roser Velasco(Universitat Autònoma de Barcelona), Sebastian Brandner(University College London), Cecilia Perini(Istituto di Genetica Molecolare), David Bennett(University of Oxford), James N. Sleigh(Queen Mary University of London), Elisa Vegezzi(Fondazione Istituto Neurologico Nazionale Casimiro Mondino), Alessandro Bertini(Vita-Salute San Raffaele University), Gabriele Lignani(Epilepsy Research UK), Mary M. Reilly(National Hospital for Neurology and Neurosurgery), María Sereno(Hospital Universitario Infanta Sofía), Ahmet Höke(Johns Hopkins University), Natalia Dominik(National Hospital for Neurology and Neurosurgery), Yau Mun Lim(Queen Mary University of London), Paola Alberti(University of Milano-Bicocca), Mina Ryten(Guy's Hospital), Ricardo Parolin Schnekenberg(University of Oxford), Stefano Facchini(University College London), Roberto Simone(National Hospital for Neurology and Neurosurgery), Vikram Khurana(Broad Institute), Elena Abati(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Riccardo Ronco(Fondazione IRCCS Istituto Neurologico Carlo Besta), Serge Przedborski(Columbia University), Zane Jaunmuktane(King's College London), Andreas A. Argyriou(Agios Andreas Hospital), Adrian M. Isaacs(Institute for Neurodegenerative Disorders), Jordi Bruna(Universitat Autònoma de Barcelona), Johannes Attems(Newcastle University), Emil K. Gustavsson(University of British Columbia), Guido Cavaletti(Bellvitge University Hospital), James E.C. Jepson(Epilepsy Research UK), Yichen Qiu(Epilepsy Research UK), Henry Houlden(Queen Mary University of London), Silvia Bione(Istituto di Genetica Molecolare), Puneet Opal(Baylor College of Medicine), Glenda Paola Grupelli(Istituto di Genetica Molecolare), Bianca Rugginini(University of Pavia), Sheng-Han Kuo(Columbia University Irving Medical Center), Chiara Briani, Arianna Ghia(University of Pavia), Arianna Tucci(Queen Mary University of London), Emmanuele Crespan(Istituto di Genetica Molecolare), Nadia Tagliaferri(Istituto di Genetica Molecolare), Gerardo Gutiérrez‐Gutiérrez(Erasmus University Rotterdam)
bioRxiv (Cold Spring Harbor Laboratory)
November 18, 2025
Cited by 0


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