Dana Clay-Falcone

TL;DR: It is shown that ataxin 2 (ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models.

TL;DR: It is proposed that aggregation-prone RNA-binding proteins might contribute very broadly to ALS pathogenesis and the genes identified in the yeast functional screen, coupled with prion-like domain prediction analysis, now provide a powerful resource to facilitate ALS disease gene discovery.

TL;DR: These studies highlight a potential role for EWSR1 in ALS, provide a collection of functional assays to be used to assess roles of additional RNA-binding proteins in disease and support an emerging concept that a class of aggregation-prone RNA- binding proteins might contribute broadly to ALS and related neurodegenerative diseases.

TL;DR: Findings implicate the FTLD-TDP risk gene TMEM106B in the development of cognitive impairment in ALS and protective alleles at TMEM 106B were significantly associated with preserved cognition in ALS patients.

TL;DR: It is indicated that CAG repeat expansions in ATXN2 associated with ALS are uniformly interrupted repeats and that the nature of the repeat sequence and haplotype, as well as length of polyQ repeat, may play a role in the neurological effect conferred by expansions in ataxia type 2.