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

^*Corresponding author

Research output: Contribution to journal › Article › peer-review

263 Citations (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.

Original language	English
Pages (from-to)	664-666
Number of pages	3
Journal	Nature Neuroscience
Volume	17
Issue number	5
DOIs	https://doi.org/10.1038/nn.3688
Publication status	Published - 2014

All Science Journal Classification (ASJC) codes

General Neuroscience

Keywords

Amyotrophic lateral sclerosis
MATR3

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10.1038/nn.3688

Cite this

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",

issn = "1097-6256",

publisher = "Nature Research",

number = "5",

}

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, no. 5, pp. 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

UR - https://publicatt.unicatt.it/handle/10807/56963

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UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84899644069&origin=inward

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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