Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Antonio Canosa; Cristina Moglia

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Risultato della ricerca: Article › peer review

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	English
pagine (da-a)	664-669
Numero di pagine	6
Rivista	Nature Neuroscience
Volume	17
Stato di pubblicazione	Published - 2014

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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.",

author = "Antonio Canosa and Cristina Moglia",

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

AU - Canosa, Antonio

AU - Moglia, Cristina

PY - 2014

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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.

UR - http://hdl.handle.net/10447/99904

M3 - Article

VL - 17

SP - 664

EP - 669

JO - Nature Neuroscience

JF - Nature Neuroscience

SN - 1097-6256

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