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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Brain
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
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Original Articles
Online Zugang: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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