Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Giuseppe Marangi, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Janel O. Johnson, Erik P. Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E. Renton, Hannah A. Pliner, Yevgeniya Abramzon, Brett J. Winborn, J. Raphael Gibbs, Michael A. Nalls, Sarah Morgan, Maryam Shoai, John HardyAlan Pittman, Richard W. Orrell, Andrea Malaspina, Katie C. Sidle, Pietro Fratta, Matthew B. Harms, Robert H. Baloh, Alan Pestronk, Conrad C. Weihl, Ekaterina Rogaeva, Lorne Zinman, Vivian E. Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D. Rothstein, Carsten Drepper, Michael Sendtner, Andrew B. Singleton, J Paul Taylor, Mark R. Cookson, Gabriella Restagno, Robert Bowser, Adriano Chio`, Bryan J. Traynor, Cristina Moglia, Stefania Cammarosano, Antonio Canosa, Sara Gallo, Maura Brunetti, Irene Ossola, Kalliopi Marinou, Laura Papetti, Fabrizio Pisano, Giuseppe Lauria Pinter, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Stefania Battistini, Claudia Ricci, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Fabrizio Salvi, Ilaria Bartolomei, Jessica Mandrioli, Patrizia Sola, Christian Lunetta, Silvana Penco, Maria Rosaria Monsurrò, Francesca Luisa Conforti, Gioacchino Tedeschi, Antonio Gambardella, Aldo Quattrone, Paolo Volanti, Gianluca Floris, Antonino Cannas, Valeria Piras, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Maura Pugliatti, Leslie D. Parish, Alessandra Sotgiu, Giuliana Solinas, Lucia Ulgheri, Anna Ticca, Isabella Simone, Giancarlo Logroscino, Angelo Pirisi

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

263 Citazioni (Scopus)

Abstract

MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
Lingua originaleEnglish
pagine (da-a)664-666
Numero di pagine3
RivistaNature Neuroscience
Volume17
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Amyotrophic lateral sclerosis
  • MATR3

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