Brian Joseph
brianjjoseph.bsky.social
Brian Joseph
@brianjjoseph.bsky.social
🧑‍🍼👨‍🔬🏃⌛️
Reposted by Brian Joseph
New issue of Nature - with NINE studies on #brain #development from the BRAIN Initiative Cell Atlas Network (BICAN) 🧠🧪🔬

An amazing set of resources for all scientists working on the brain!

🧠 Immersive feature:
www.nature.com/immersive/d4...

🧠 Perspective:
www.nature.com/articles/s41...
November 5, 2025 at 6:53 PM
Sharing our latest work, an ALS-related KCNQ2 splice variant that yields a dead channel (no K+ permeability), aggregates in neurons and causes intrinsic hyperexcitability.
Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others.
www.nature.com/articles/s41...
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - Nature Neuroscience
TDP-43 dysfunction in ALS/FTD causes faulty splicing of the KCNQ2 ion channel, leading to toxic protein buildup, neuron hyperactivity and a potential new biomarker and treatment target using RNA-based...
www.nature.com
November 4, 2025 at 3:09 AM