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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Aged, 80 and over
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Amyotrophic Lateral Sclerosis / genetics*
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Amyotrophic Lateral Sclerosis / pathology
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Computational Biology
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DNA Mutational Analysis
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DNA-Binding Proteins / metabolism
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Family Health*
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Female
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Genetic Predisposition to Disease / genetics*
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Genotype
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Humans
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Male
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Middle Aged
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Mutation / genetics*
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Neurologic Examination
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Nuclear Matrix-Associated Proteins / genetics*
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Nuclear Matrix-Associated Proteins / metabolism
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RNA-Binding Proteins / genetics*
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RNA-Binding Proteins / metabolism
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Spinal Cord / metabolism
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Spinal Cord / pathology
Substances
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DNA-Binding Proteins
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MATR3 protein, human
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Nuclear Matrix-Associated Proteins
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RNA-Binding Proteins