Start Over

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Authors :: Johnson, J. O.
Pioro, E. P.
Boehringer, A.
Chia, R.
Feit, H.
Renton, A. E.
Pliner, H. A.
Abramzon, Y.
Marangi, G.
Winborn, B. J.
Gibbs, J. R.
Nalls, M. A.
Morgan, S.
Shoai, M.
Hardy, J.
Pittman, A.
Orrell, R. W.
Malaspina, A.
Sidle, K. C.
Fratta, P.
Harms, M. B.
Baloh, R. H.
Pestronk, A.
Weihl, C. C.
Rogaeva, E.
Zinman, L.
Drory, V. E.
Borghero, G.
Mora, G.
Calvo, A.
Rothstein, J. D.
Drepper, C.
Sendtner, M.
Singleton, A. B.
Taylor, J. P.
Cookson, M. R.
Restagno, G.
Sabatelli, M.
Bowser, R.
Chio`, A.
Traynor, B. J.
Moglia, C.
Cammarosano, S.
Canosa, A.
Gallo, S.
Brunetti, M.
Ossola, I.
Marinou, K.
Papetti, L.
Pisano, F.
Pinter, G. L.
Conte, A.
Luigetti, M.
Zollino, M.
Lattante, S.
la Bella, V.
Spataro, R.
Colletti, T.
Battistini, S.
Ricci, C.
Caponnetto, C.
Mancardi, G.
Mandich, P.
Salvi, F.
Bartolomei, I.
Mandrioli, J.
Sola, P.
Lunetta, C.
Penco, S.
Monsurro, M. R.
Conforti, F. L.
Tedeschi, G.
Gambardella, A.
Quattrone, A.
Volanti, P.
Floris, G.
Cannas, A.
Piras, V.
Marrosu, F.
Marrosu, M. G.
Murru, M. R.
Pugliatti, M.
Parish, L. D.
Sotgiu, A.
Solinas, G.
Ulgheri, L.
Ticca, A.
Simone, I.
Logroscino, G.
Pirisi, A.
Johnson, JO
Pioro, EP
Boehringer, A
Chia, R
Feit, H5
Renton, AE
Pliner, HA
Abramzon, Y6
Marangi, G
Winborn, BJ
Gibbs, JR
Nalls, MA
Morgan, S
Shoai, M
Hardy, J
Pittman, A
Orrell, RW
Malaspina, A
Sidle, KC
Fratta, P
Harms, MB
Baloh, RH
Pestronk, A
Weihl, CC
Rogaeva, E
Zinman, L
Drory, VE
Borghero, G
Mora, G
Calvo, A
Rothstein, JD
ITALSGEN Consortium (including Cammarosano,S
Canosa, A
Moglia, C)
Drepper, C
Sendtner, M
Singleton, AB
Taylor, JP
Cookson, MR
Restagno, G
Sabatelli, M
Bowser, R
Chiò, A
Traynor, BJ.
Moglia, C.
Canosa, A.
Johnson, Jo
Pioro, Ep
Feit, H
Renton, Ae
Pliner, Ha
Abramzon, Y
Winborn, Bj
Gibbs, Jr
Nalls, Ma
Orrell, Rw
Sidle, Kc
Harms, Mb
Baloh, Rh
Weihl, Cc
Drory, Ve
Rothstein, Jd
Italsgen, Consortium
Among the, Collaborator
Monsurro', Maria Rosaria
Tedeschi, Gioacchino
Singleton, Ab
Taylor, Jp
Cookson, Mr
Traynor, B. J.
Source :: Nature neuroscience, Nature Neuroscience; Vol 17, 17 (2014): 664–666. doi:10.1038/nn.3688, info:cnr-pdr/source/autori:Johnson J.O.; Pioro E.P.; Boehringer A.; Chia R.; Feit H.; Renton A.E.; Pliner H.A.; Abramzon Y.; Marangi G.; Winborn B.J.; Gibbs J.R.; Nalls M.A.; Morgan S.; Shoai M.; Hardy J.; Pittman A.; Orrell R.W.; Malaspina A.; Sidle K.C.; Fratta P.; Harms M.B.; Baloh R.H.; Pestronk A.; Weihl C.C.; Rogaeva E.; Zinman L.; Drory V.E.; Borghero G.; Mora G.; Calvo A.; Rothstein J.D.; Drepper C.; Sendtner M.; Singleton A.B.; Taylor J.P.; Cookson M.R.; Restagno G.; Sabatelli M.; Bowser R.; Chio A.; Traynor B.J./titolo:Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis/doi:10.1038%2Fnn.3688/rivista:Nature neuroscience (Print)/anno:2014/pagina_da:664/pagina_a:666/intervallo_pagine:664–666/volume:17
Publication Year :: 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. © 2014 Nature America, Inc. All rights reserved.

Subjects :: 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
Middle Aged
DNA-Binding Proteins
MATR3
medicine.anatomical_structure
Spinal Cord
familial amyotrophic lateral sclerosis
Muscle
Settore MED/26 - Neurologia
Female
Frontotemporal dementia
Article
03 medical and health sciences
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
genetic
business
Neuroscience
metabolism
030217 neurology & neurosurgery

Details

Language :: English
ISSN :: 15461726
Database :: OpenAIRE
Journal :: Nature neuroscience, Nature Neuroscience; Vol 17, 17 (2014): 664–666. doi:10.1038/nn.3688, info:cnr-pdr/source/autori:Johnson J.O.; Pioro E.P.; Boehringer A.; Chia R.; Feit H.; Renton A.E.; Pliner H.A.; Abramzon Y.; Marangi G.; Winborn B.J.; Gibbs J.R.; Nalls M.A.; Morgan S.; Shoai M.; Hardy J.; Pittman A.; Orrell R.W.; Malaspina A.; Sidle K.C.; Fratta P.; Harms M.B.; Baloh R.H.; Pestronk A.; Weihl C.C.; Rogaeva E.; Zinman L.; Drory V.E.; Borghero G.; Mora G.; Calvo A.; Rothstein J.D.; Drepper C.; Sendtner M.; Singleton A.B.; Taylor J.P.; Cookson M.R.; Restagno G.; Sabatelli M.; Bowser R.; Chio A.; Traynor B.J./titolo:Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis/doi:10.1038%2Fnn.3688/rivista:Nature neuroscience (Print)/anno:2014/pagina_da:664/pagina_a:666/intervallo_pagine:664–666/volume:17
Accession number :: edsair.doi.dedup.....9b7afdbc43725f766aa220a1304fd159
Full Text :: https://doi.org/10.1038/nn.3688