Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications Ltd 2022-04-01
Colecção:eLife
Assuntos:
Syngap1
splicing
isoforms
cognition
behavior
seizure
Acesso em linha:https://elifesciences.org/articles/75707
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados