TDP-43 pathology triggers SRRM4-dependent cryptic splicing of G3BP1 in ALS/FTD
Hana Fakim, Asmita Ghosh, Emmanuel Amzallag, Yehuda Matan Danino, Valérie Triassi, Anna‐Leigh Brown, Nanu Pal, Jade-Emmanuelle Deshaies, Alicia F. Dubinski, Andréanne Lacombe, Carolane Fauchon, Arash Meghdadi Esfahani, Karen Ling, Frank Rigo, Paymaan Jafar‐Nejad, , Christine Vande Velde
The paper shows that TDP-43 pathology causes a cryptic exon in G3BP1 to be included in neurons, leading to a protein that disrupts stress granule dynamics in ALS/FTD.
bioRxiv · Sep 17, 2025 · PreprintNeuroscience