ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
Copyright policy )ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
SignificanceMutations in the RNA binding protein TDP-43 cause amyotrophic lateral sclerosis and frontotemporal dementia. Through expressing disease-causing mutants in mice and genome-wide RNA splicing analyses, mutant TDP-43 is shown to retain normal or enhanced activity for facilitating splicing of some RNA targets, but “loss-of-function” for others. These splicing changes, as well as age-dependent, mutant-dependent lower motor neuron disease, occur without loss of nuclear TDP-43 or accumulation of insoluble aggregates of TDP-43.
- University of California, San Diego United States
- King's College London United Kingdom
- Ministry of Health Malaysia
- Kings College London, University of London United Kingdom
- Ludwig Cancer Research Belgium
PROCESSING PROTEIN, 570, ALPHA-SYNUCLEIN, RNA Splicing, 610, Mice, Transgenic, Real-Time Polymerase Chain Reaction, frontotemporal dementia, AMYOTROPHIC-LATERAL-SCLEROSIS, Mice, Animals, MUTANT TDP-43, TRANSGENIC MICE, Cell Nucleus, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP MUTATIONS, Amyotrophic Lateral Sclerosis, neurodegeneration, Ubiquitination, DNA-Binding Proteins, CELLULAR TOXICITY, Mutation, DNA-BINDING PROTEIN-43, RNA binding proteins, SPINAL-CORD
PROCESSING PROTEIN, 570, ALPHA-SYNUCLEIN, RNA Splicing, 610, Mice, Transgenic, Real-Time Polymerase Chain Reaction, frontotemporal dementia, AMYOTROPHIC-LATERAL-SCLEROSIS, Mice, Animals, MUTANT TDP-43, TRANSGENIC MICE, Cell Nucleus, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP MUTATIONS, Amyotrophic Lateral Sclerosis, neurodegeneration, Ubiquitination, DNA-Binding Proteins, CELLULAR TOXICITY, Mutation, DNA-BINDING PROTEIN-43, RNA binding proteins, SPINAL-CORD
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