Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

6533b870fe1ef96bd12cfcd2

RESEARCH PRODUCT

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

J. O. Johnson E. P. Pioro A. Boehringer R. Chia H. Feit A. E. Renton H. A. Pliner Y. Abramzon G. Marangi B. J. Winborn J. R. Gibbs M. A. Nalls S. Morgan M. Shoai J. Hardy A. Pittman R. W. Orrell A. Malaspina K. C. Sidle P. Fratta M. B. Harms R. H. Baloh A. Pestronk C. C. Weihl E. Rogaeva L. Zinman V. E. Drory G. Borghero G. Mora A. Calvo J. D. Rothstein C. Drepper M. Sendtner A. B. Singleton J. P. Taylor M. R. Cookson G. Restagno M. Sabatelli R. Bowser A. Chio`B. J. Traynor C. Moglia S. Cammarosano A. Canosa S. Gallo M. Brunetti I. Ossola K. Marinou L. Papetti F. Pisano G. L. Pinter A. Conte M. Luigetti M. Zollino S. Lattante G. Marangi V. La Bella R. Spataro T. Colletti S. Battistini C. Ricci C. Caponnetto G. Mancardi P. Mandich F. Salvi I. Bartolomei J. Mandrioli P. Sola C. Lunetta S. Penco M. R. Monsurro F. L. Conforti G. Tedeschi A. Gambardella A. Quattrone P. Volanti G. Floris A. Cannas V. Piras F. Marrosu M. G. Marrosu M. R. Murru M. Pugliatti L. D. Parish A. Sotgiu G. Solinas L. Ulgheri A. Ticca I. Simone G. Logroscino A. Pirisi

subject

Male Aged Aged; 80 and over Amyotrophic Lateral Sclerosis; genetics/pathology Computational Biology DNA Mutational Analysis DNA-Binding Proteins; metabolism Family Health Female Genetic Predisposition to Disease; genetics Genotype Humans Male Middle Aged Muscle; Skeletal; metabolism/pathology Mutation; genetics Neurologic Examination Nuclear Matrix-Associated Proteins; genetics/metabolism RNA-Binding Proteins; genetics/metabolism Spinal Cord; metabolism/pathology DNA Mutational Analysis genetics/metabolism RNA-binding protein Settore MED/03 - GENETICA MEDICA medicine.disease_cause 0302 clinical medicine Nuclear Matrix-Associated Proteins Genotype 80 and over genetics Amyotrophic lateral sclerosis Exome sequencing Genetics Aged 80 and over Neurologic Examination 0303 health sciences Mutation General Neuroscience RNA-Binding Proteins Skeletal Middle Aged DNA-Binding Proteins MATR3 medicine.anatomical_structure Spinal Cord familial amyotrophic lateral sclerosis Muscle Settore MED/26 - Neurologia Female Frontotemporal dementia metabolism/pathology Genotype Article 03 medical and health sciences genetics; familial amyotrophic lateral sclerosis mental disorders medicine Humans Genetic Predisposition to Disease Muscle Skeletal 030304 developmental biology Aged Family Health business.industry Amyotrophic Lateral Sclerosis genetics/pathology RNA Computational Biology Spinal cord medicine.disease Mutation genetic business Neuroscience metabolism 030217 neurology & neurosurgery

description

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. © 2014 Nature America, Inc. All rights reserved.

year	journal	country	edition	language
2013-12-14

10.1038/nn.3688 http://hdl.handle.net/2318/153782