Data di Pubblicazione:
2014
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.
Tipologia CRIS:
03A-Articolo su Rivista
Keywords:
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
Elenco autori:
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;I. T. A.;C. Drepper;M. Sendtner;A. B. Singleton;J. P. Taylor;M. R. Cookson;G. Restagno;M. Sabatelli;R. Bowser;A. Chiò;B. J. Traynor
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