Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Jo Johnson; Ep Pioro; A Boehringer; R Chia; H Feit; Ae Renton; Ha Pliner; Y Abramzon; Giuseppe Marangi; Bj Winborn; Jr Gibbs; Ma Nalls; S Morgan; M Shoai; J Hardy; A Pittman; Rw Orrell; A Malaspina; Kc Sidle; P Fratta; Mb Harms; Rh Baloh; A Pestronk; Cc Weihl; E Rogaeva; L Zinman; Ve Drory; G Borghero; G Mora; A Calvo; Jd Rothstein; C Drepper; M Sendtner; Ab Singleton; Jp Taylor; Cookson; G Restagno; Mario Sabatelli; R Bowser; A Chiò; Bj Traynor; Amelia Conte; Marco Luigetti; Marcella Zollino; Serena Lattante

doi:10.1038/nn.3688

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Jo Johnson
, Ep Pioro
, A Boehringer
, R Chia
, H Feit
, Ae Renton
, Ha Pliner
, Y Abramzon
, Giuseppe Marangi
, Bj Winborn
, Jr Gibbs
, Ma Nalls
, S Morgan
, M Shoai
, J Hardy
, A Pittman
, Rw Orrell
, A Malaspina
, Kc Sidle
, P Fratta

Mb Harms, Rh Baloh, A Pestronk, Cc Weihl, E Rogaeva, L Zinman, Ve Drory, G Borghero, G Mora, A Calvo, Jd Rothstein, C Drepper, M Sendtner, Ab Singleton, Jp Taylor, Cookson, G Restagno, Mario Sabatelli, R Bowser, A Chiò, Bj Traynor^*, Amelia Conte, Marco Luigetti, Marcella Zollino, Serena Lattante

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo › peer 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 originale	Inglese
pagine (da-a)	664-666
Numero di pagine	3
Rivista	Nature Neuroscience
Volume	17
Numero di pubblicazione	5
DOI	https://doi.org/10.1038/nn.3688
Stato di pubblicazione	Pubblicato - 2014

All Science Journal Classification (ASJC) codes

Neuroscienze Generali

Keywords

Amyotrophic lateral sclerosis
MATR3

Accesso al documento

10.1038/nn.3688

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Johnson, J., Pioro, E., Boehringer, A., Chia, R., Feit, H., Renton, A., Pliner, H., Abramzon, Y., Marangi, G., Winborn, B., Gibbs, J., Nalls, M., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R., Malaspina, A., Sidle, K., ... Lattante, S. (2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience, 17(5), 664-666. https://doi.org/10.1038/nn.3688

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title = "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis",

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.",

keywords = "Amyotrophic lateral sclerosis, MATR3, Amyotrophic lateral sclerosis, MATR3",

author = "Jo Johnson and Ep Pioro and A Boehringer and R Chia and H Feit and Ae Renton and Ha Pliner and Y Abramzon and Giuseppe Marangi and Bj Winborn and Jr Gibbs and Ma Nalls and S Morgan and M Shoai and J Hardy and A Pittman and Rw Orrell and A Malaspina and Kc Sidle and P Fratta and Mb Harms and Rh Baloh and A Pestronk and Cc Weihl and E Rogaeva and L Zinman and Ve Drory and G Borghero and G Mora and A Calvo and Jd Rothstein and C Drepper and M Sendtner and Ab Singleton and Jp Taylor and Cookson and G Restagno and Mario Sabatelli and R Bowser and A Chi{\`o} and Bj Traynor and Amelia Conte and Marco Luigetti and Marcella Zollino and Serena Lattante",

year = "2014",

doi = "10.1038/nn.3688",

language = "English",

volume = "17",

pages = "664--666",

journal = "Nature Neuroscience",

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Johnson, J, Pioro, E, Boehringer, A, Chia, R, Feit, H, Renton, A, Pliner, H, Abramzon, Y, Marangi, G, Winborn, B, Gibbs, J, Nalls, M, Morgan, S, Shoai, M, Hardy, J, Pittman, A, Orrell, R, Malaspina, A, Sidle, K, Fratta, P, Harms, M, Baloh, R, Pestronk, A, Weihl, C, Rogaeva, E, Zinman, L, Drory, V, Borghero, G, Mora, G, Calvo, A, Rothstein, J, Drepper, C, Sendtner, M, Singleton, A, Taylor, J, Cookson, Restagno, G, Sabatelli, M, Bowser, R, Chiò, A, Traynor, B, Conte, A, Luigetti, M , Zollino, M & Lattante, S 2014, 'Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis', Nature Neuroscience, vol. 17, n. 5, pagg. 664-666. https://doi.org/10.1038/nn.3688

TY - JOUR

T1 - Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

AU - Johnson, Jo

AU - Pioro, Ep

AU - Boehringer, A

AU - Chia, R

AU - Feit, H

AU - Renton, Ae

AU - Pliner, Ha

AU - Abramzon, Y

AU - Marangi, Giuseppe

AU - Winborn, Bj

AU - Gibbs, Jr

AU - Nalls, Ma

AU - Morgan, S

AU - Shoai, M

AU - Hardy, J

AU - Pittman, A

AU - Orrell, Rw

AU - Malaspina, A

AU - Sidle, Kc

AU - Fratta, P

AU - Harms, Mb

AU - Baloh, Rh

AU - Pestronk, A

AU - Weihl, Cc

AU - Rogaeva, E

AU - Zinman, L

AU - Drory, Ve

AU - Borghero, G

AU - Mora, G

AU - Calvo, A

AU - Rothstein, Jd

AU - Drepper, C

AU - Sendtner, M

AU - Singleton, Ab

AU - Taylor, Jp

AU - Cookson,

AU - Restagno, G

AU - Sabatelli, Mario

AU - Bowser, R

AU - Chiò, A

AU - Traynor, Bj

AU - Conte, Amelia

AU - Luigetti, Marco

AU - Zollino, Marcella

AU - Lattante, Serena

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Amyotrophic lateral sclerosis

KW - MATR3

KW - Amyotrophic lateral sclerosis

KW - MATR3

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U2 - 10.1038/nn.3688

DO - 10.1038/nn.3688

M3 - Article

SN - 1097-6256

VL - 17

SP - 664

EP - 666

JO - Nature Neuroscience

JF - Nature Neuroscience

IS - 5

ER -

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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