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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
Amyotrophic lateral sclerosis (ALS) presents with focal muscle weakness due to motor neuron degeneration that becomes generalized, leading to death from respiratory failure within 3–5 years from symptom onset. Despite the heterogeneity of aetiology, TDP-43 proteinopathy is a common pathological feat...
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| Udgivet i: | Brain |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6885686/ https://ncbi.nlm.nih.gov/pubmed/31605140 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz313 |
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