Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia

Christine Marques, Aaron Held, Katherine Dorfman, Joon Sung, Catherine Song, Amey S. Kavuturu, Corey Aguilar, Tommaso Russo, Derek H. Oakley, Mark W. Albers, Bradley T. Hyman, Leonard Petrucelli, Clotilde Lagier‐Tourenne, Brian J. Wainger

Acta Neuropathologica (2024) DOI: https://doi.org/10.1007/s00401-024-02688-z

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease

Ana Rita Agra Almeida Quadros*, Zhaozhi Li, Xue Wang, I Sandra Ndayambaje, Sandeep Aryal, Nandini Ramesh, Matthew Nolan, Rojashree Jayakumar, Yi Han, Hannah Stillman, Corey Aguilar, Hayden J Wheeler, Theresa Connors, Jone Lopez-Erauskin, Michael W Baughn, Ze'ev Melamed, Melinda S Beccari, Laura Olmedo Martínez, Michael Canori, Chao-Zong Lee, Laura Moran, Isabelle Draper, Alan S Kopin, Derek H Oakley, Dennis W Dickson, Don W Cleveland, Bradley T Hyman, Sudeshna Das, Nilüfer Ertekin-Taner*, Clotilde Lagier-Tourenne*

Acta Neuropathologica (2024) DOI: https://doi.org/10.1007/s00401-023-02655-0

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations

Zinan Zhou, Junho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Ryan Doan, Taehwan Shin, Michael B. Miller, Brian Chhouk, Katherine Morillo, Rebecca C. Yeh, Connor Kenny, Jennifer E. Neil, Chao-Zong Lee, Takuya Ohkubo, John Ravits, Olaf Ansorge, Lyle W. Ostrow, Clotilde Lagier-Tourenne*, Eunjung Alice Lee*, Christopher A. Walsh*

BioRxiv (2023) DOI: https://doi.org/10.1101/2023.11.30.569436

Abberant splicing in Huntington’s disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification

Thai B Nguyen, Ricardo Miramontes, Carlos Chillon-Marinas, Roy Maimon, Sonia Vazquez-Sanchez, Alice L Lau, Nicolette R McClure, Whitney E England, Monika Singha, Jennifer T Stocksdale, Ki-Hong Jang, Sunhee Jung, Jharrayne I McKnight, Leanne N Ho, Richard L M Faull, Joan S Steffan, Jack C Reidling, Cholsoon Jang, Gina Lee, Don W Cleveland, Clotilde Lagier-Tourenne, Robert C Spitale, Leslie M Thompson

BioRxiv (2023) DOI: 10.1101/2023.10.31.565004