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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885686/
https://www.ncbi.nlm.nih.gov/pubmed/31605140
http://dx.doi.org/10.1093/brain/awz313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885686/
https://www.ncbi.nlm.nih.gov/pubmed/31605140
http://dx.doi.org/10.1093/brain/awz313

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