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Article

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

1 Oct 2019

Abstract excerpt

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 feature that is observed in >95% of ALS and tau-negative frontotemporal dementia (FTD) cases. TDP-43 is a...

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PMID: 31605140
DOI: 10.1093/brain/awz313

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