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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2019
Teme:
Original Articles
Online dostop: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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