Article
Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection.
eLife - 8 Apr 2022
Kilinc Murat, Arora Vineet, Creson Thomas K, Rojas Camilo, Le Aliza A, Lauterborn Julie, Wilkinson Brent, Hartel Nicolas, Graham Nicholas, Reich Adrian, Gou Gemma, Araki Yoichi, Bayés Àlex, Coba Marcelo, Lynch Gary, Miller Courtney A, Rumbaugh Gavin
Abstract excerpt
Loss-of-function variants in SYNGAP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple cellular functions of SynGAP proteins through coding of distinct C-terminal motifs. However, it remains unknown how these different splice sequences function in vivo to...
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