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: |
| Date | Event |
|---|
| May 2014 | Published | | 30 March 2014 | Published Online | | 5 March 2014 | Accepted |
|
| Publisher License: |
Publisher's own licence |
| Projects: |
|
| 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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