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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Enregistré dans:
Détails bibliographiques
Publié dans:Brain
Auteurs principaux: 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
Langue:Inglês
Publié: Oxford University Press 2019
Sujets:
Original Articles
Accès en ligne: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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