Tania F. Gendron

TL;DR: The specificity of C9RANT for c9FTD/ALS is a potential biomarker for this most common cause of FTD and ALS and have significant implications for treatment strategies directed at RAN-translated peptides and their aggregation and the RNA structures necessary for their production.

TL;DR: Findings support the idea that the buildup of “toxic” RNA containing the GGGGCC repeat contributes to the death of motor neurons in ALS, and suggest that antisense oligonucleotides targeting this transcript may be a strategy for treating ALS patients with the C9ORF72 repeat expansion.

TL;DR: It is reported that the ectopic expression of a ≈25-kDa TDP-43 fragment corresponding to the C-terminal truncation product of caspase-cleaved T DP-43 leads to the formation of toxic, insoluble, and ubiquitin- and phospho-positive cytoplasmic inclusions within cells.

TL;DR: In this paper, the authors examined whether antisense transcripts resulting from bidirectional transcription of the expanded GGGGCC repeat behave in a similar manner and showed that ectopic expression of (CCCCGG)66 in cultured cells results in foci formation.

TL;DR: Transgenic mice expressing full-length human TDP-43 (hTDP- 43) driven by the mouse prion promoter are generated to provide a tool to analyze the role of wild-type hT DP-43 in the brain and spinal cord and for studying TDP -43-associated neurotoxicity.