Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Giuseppe Marangi; Mario Sabatelli; Amelia Conte; Marco Luigetti; Marcella Zollino; Serena Lattante

doi:10.1038/nn.3688

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Giuseppe Marangi, Mario Sabatelli, Amelia Conte, Marco Luigetti, Marcella Zollino, Serena Lattante

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
DOIs	https://doi.org/10.1038/nn.3688
Publication status	Published - 2014

Keywords

Amyotrophic lateral sclerosis
MATR3

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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.",

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author = "Giuseppe Marangi and Mario Sabatelli and Amelia Conte and Marco Luigetti and Marcella Zollino and Serena Lattante",

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AU - Marangi, Giuseppe

AU - Sabatelli, Mario

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 - http://hdl.handle.net/10807/56963

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

ER -

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Abstract

Keywords

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