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

Johnson, JO; Pioro, EP; Boehringer, A; Chia, R; Feit, H; Renton, AE; Pliner, HA; Abramzon, Y; Marangi, G; Winborn, BJ; et al. Johnson, JO; Pioro, EP; Boehringer, A; Chia, R; Feit, H; Renton, AE; Pliner, HA; Abramzon, Y; 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; Drepper, C; Sendtner, M; Singleton, AB; Taylor, JP; Cookson, MR; Restagno, G; Sabatelli, M; Bowser, R; Chiò, A; Traynor, BJ (2014) Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci, 17 (5). pp. 664-666. ISSN 1546-1726 https://doi.org/10.1038/nn.3688
SGUL Authors: Pittman, Alan Michael

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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.

Item Type: Article
Additional Information: This is a post-peer-review, pre-copyedit version of an article published in Nature Neuroscience. The final authenticated version is available online at: http://dx.doi.org/10.1038/nn.3688
Keywords: Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Computational Biology, DNA Mutational Analysis, DNA-Binding Proteins, Family Health, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Muscle, Skeletal, Mutation, Neurologic Examination, Nuclear Matrix-Associated Proteins, RNA-Binding Proteins, Spinal Cord, ITALSGEN, Muscle, Skeletal, Spinal Cord, Humans, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, RNA-Binding Proteins, DNA-Binding Proteins, Nuclear Matrix-Associated Proteins, Neurologic Examination, DNA Mutational Analysis, Computational Biology, Genotype, Mutation, Aged, Aged, 80 and over, Middle Aged, Family Health, Female, Male, 1109 Neurosciences, 1702 Cognitive Science, Neurology & Neurosurgery
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Nat Neurosci
ISSN: 1546-1726
Language: eng
Dates:
DateEvent
May 2014Published
30 March 2014Published Online
5 March 2014Accepted
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
ZIA AG000933-02Intramural Research Programs NIH NIA NINDSUNSPECIFIED
R01 NS085207NINDS NIH HHSUNSPECIFIED
UL1 TR001079NCATS NIH HHSUNSPECIFIED
K02 AG042095NIA NIH HHSUNSPECIFIED
Z01-AG000949-02NIA NIH HHSUNSPECIFIED
K08 NS075094NINDS NIH HHSUNSPECIFIED
MC_G1000735Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
NS061867NINDS NIH HHSUNSPECIFIED
089698Wellcome Trusthttp://dx.doi.org/10.13039/100004440
UNSPECIFIEDMedical Research Councilhttp://dx.doi.org/10.13039/501100000265
G1000287Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
PubMed ID: 24686783
Web of Science ID: WOS:000335016200008
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/111061
Publisher's version: https://doi.org/10.1038/nn.3688

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