This study investigates YWHAG R132C mutations in iPSC-derived cortical neurons, revealing decoupled calcium homeostasis and signaling linked to cytoskeletal instability.

bioRxiv · Apr 3, 2026 · PreprintNeuroscience

Aberrant splicing exonizes C9ORF72 repeat expansion in ALS/FTD

Suzhou Yang, Denethi Wijegunawardana, Udit Sheth, Austin M. Veire, Juliana M. S. Salgado, Tanina Arab, Manasi Agrawal, Jeffrey Zhou, João D. Pereira, Tania F. Gendron, Junjie U. Guo

The paper shows that C9ORF72 repeat expansions cause aberrant splicing, leading to exonization and altered RNA processing in ALS/FTD.

Nature Neuroscience · Aug 11, 2025Peer-reviewedNeuroscience

Comprehensive preclinical evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9ORF72 disease

Mélanie Jambeau, Kevin D. Meyer, Marián Hruška-Plocháň, Ricardos Tabet, Chao-Zong Lee, Ananya Ray-Soni, Corey Aguilar, Kitty Savage, Nibha Mishra, Nicole Cavegn, Petra Borter, Chun-Chia Lin, Karen R. Jansen‐West, Jie Jiang, Fernande Freyermuth, , Clotilde Lagier‐Tourenne

This study evaluates human-derived anti-poly-GA antibodies in cellular and animal models of C9ORF72 disease, showing mixed effects on poly-GA levels and disease progression.

Proceedings of the National Academy of Sciences · Dec 1, 2022Peer-reviewedNeuroscience

A Cultured Sensorimotor Organoid Model Forms Human Neuromuscular Junctions

João D. Pereira, Daniel M. DuBreuil, Anna‐Claire Devlin, Aaron Held, Yechiam Sapir, Eugene Berezovski, James Hawrot, Katherine Dorfman, Vignesh Chander, Brian J. Wainger

The paper develops a cultured sensorimotor organoid model that forms functional neuromuscular junctions and uses it to study ALS subgroups.

bioRxiv · Mar 3, 2021 · PreprintNeuroscience