Dissociation of SYNGAP1 enzymatic and structural roles: Intrinsic excitability and seizure susceptibility | PNAS
SYNGAP1 is a key Ras-GAP protein enriched at excitatory synapses, with mutations causing
intellectual disability and epilepsy in humans. Recent stu...
Now published in PNAS! Congrats to my amazing colleagues Julia and Blaise & postdoctoral mentor Rick! www.pnas.org/doi/10.1073/...
Here we've dissociated enzymatic vs structural roles of SYNGAP1 in neuronal physiology and seizure susceptibility. This will inform treatment development for this NDD!
28.04.2025 22:18 β π 0 π 0 π¬ 0 π 0
Congrats to my dear colleagues Julia Brill, Blaise Clarke, and @rhuganir.bsky.social! And thanks to the many people who helped with this research. Lastly, thanks to
@curesyngap1.bsky.social and all Syngapian families who inspired our science.
17.01.2025 21:38 β π 2 π 1 π¬ 1 π 0
Seizures and epilepsy are serious symptoms of #SYNGAP1 syndrome, which arises from LoF mutations in the gene. Our finding has important implications in the treatment of this condition because it shows that the structural role of SYNGAP1 will need to be rescued by therapies.
17.01.2025 21:38 β π 2 π 0 π¬ 1 π 0
This unexpected structural role was discovered when
#YoichiAraki made GAP-deficient* mutant Syngap1 mice & explored LLPS with other molecules. GAP-regulation of intrinsic excitability builds on earlier findings by #GavinRumbaugh & establishes SYNGAP1 as a bifunctional molecule.
17.01.2025 21:38 β π 0 π 0 π¬ 1 π 0
Excited to share our new preprint on #SYNGAP1 that shows how its enzymatic and structural role can be dissociated! The GAP activity is essential in increasing intrinsic excitability but does not contribute to the seizure protection SynGAP is important for: biorxiv.org/content/10.1...
17.01.2025 21:38 β π 13 π 4 π¬ 1 π 0
Preprint of our new manuscript describing the differential enzymatic and structural roles of SYNGAP1. These findings highlight the complex interplay between SYNGAP1 structural and catalytic functions in neuronal physiology and disease.
www.biorxiv.org/content/10.1...
17.01.2025 17:36 β π 64 π 15 π¬ 1 π 2
Director, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai. Shakuhachi student.
RepeatMasker is a tool that annotates transposable elements, satellites and tandem repeats in genomic sequences.
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
Dedicated to helping neuroscientists stay current and build connections. Subscribe to receive the latest news and perspectives on neuroscience: www.thetransmitter.org/newsletters/
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
BME/Neuroscience postdoc at Cornell University working with AD mouse models, multiphoton imaging, and virtual reality!
Stadtman investigator at NIH, NIDDK. Neuromodulation and motivation section. All views/posts are my own.
Cognitive neuroscience at MIT. Open science. π¨π¦
Saxelab.mit.edu
Brains, emotions, memories. Director, Beckman Institute for Advanced Science and Technology at University of Illinois Urbana-Champaign πΆπ·
Assistant Professor at UVA Neuroscience. A glia enthusiast and a humble servant to science. Also a trans and a proud Taiwanese. They/them.
Ass. Prof. at Medical University of Vienna, #NewPI, Astrocyte lover and glia enthusiast, Neuroscientist, loves fantasy books, Mom of 3
Neuroscientist at the Allen Institute for Neural Dynamics
Professor of neuroscience at Boston University
Postdoc in the Ingolia Lab @ UC Berkeley. Interested in the crosstalk between neuronal activity and gene expression. κΉμ μ°.
Neuroscientist at Tel Aviv University
https://www.slutskylab.com/
π¨π¦ Neurobiologist interested in toolmaking, synapses, and circuits.
The Johns Hopkins OneNeuro Initiative is building a university-wide neuroscience community to understand the brain - from molecules to mind.
Ketamine Karen, Dopamine Dame
Here via Tehran/KU/Yale/Pitt
author of KETAMINE https://mitpress.mit.edu/9780262542241/
and a lot of good papers https://scholar.google.com/citations?user=WNB2KvkAAAAJ&hl=en
