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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Detalhes bibliográficos
Publicado no:Brain
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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Original Articles
Acesso em linha: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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