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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...

詳細記述

保存先:
書誌詳細
出版年:Brain
主要な著者: Chen, Han-Jou, Topp, Simon D, Hui, Ho Sang, Zacco, Elsa, Katarya, Malvika, McLoughlin, Conor, King, Andrew, Smith, Bradley N, Troakes, Claire, Pastore, Annalisa, Shaw, Christopher E
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2019
主題:
オンライン・アクセス: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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