TDP-43 represses cryptic exon inclusion in FTD/ALS gene UNC13A
X. Rosa Ma, Mercedes Prudencio, Yuka Mitsuhashi Koike, Sarat C. Vatsavayai, Garam Kım, Fred Harbinski, Adam Briner, Caitlin M. Rodriguez, Caiwei Guo, Tetsuya Akiyama, Hermann Broder Schmidt, Beryl B. Cummings, David W. Wyatt, Katherine Kurylo, Georgiana Miller, , Aaron D. Gitler
This study shows that TDP-43 represses a cryptic exon in UNC13A, and genetic variants associated with FTD/ALS increase cryptic exon inclusion when TDP-43 is dysfunctional.
Nature · Feb 23, 2022Peer-reviewedNeuroscience