Key roles of C2/GAP domains in SYNGAP1-related pathophysiology

Mutations in SYNGAP1 are a common genetic cause of intellectual disability (ID) and a risk factor for autism. SYNGAP1 encodes a synaptic GTPase-activating protein (GAP) that has both signaling and scaffolding roles. Most pathogenic variants of SYNGAP1 are predicted to result in haploinsufficiency. H...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Cell reports (Cambridge) 2024-09, Vol.43 (9), p.114733, Article 114733
Hauptverfasser:	Katsanevaki, Danai, Till, Sally M., Buller-Peralta, Ingrid, Nawaz, Mohammad Sarfaraz, Louros, Susana R., Kapgal, Vijayakumar, Tiwari, Shashank, Walsh, Darren, Anstey, Natasha J., Petrović, Nina G., Cormack, Alison, Salazar-Sanchez, Vanesa, Harris, Anjanette, Farnworth-Rowson, William, Sutherland, Andrew, Watson, Thomas C., Dimitrov, Siyan, Jackson, Adam D., Arkell, Daisy, Biswal, Suryanarayan, Dissanayake, Kosala N., Mizen, Lindsay A.M., Perentos, Nikolas, Jones, Matt W., Cousin, Michael A., Booker, Sam A., Osterweil, Emily K., Chattarji, Sumantra, Wyllie, David J.A., Gonzalez-Sulser, Alfredo, Hardt, Oliver, Wood, Emma R., Kind, Peter C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals autism Autistic Disorder - genetics Autistic Disorder - metabolism Disease Models, Animal encephalopathy epilepsy exploration Fear - physiology Haploinsufficiency Heterozygote Humans intellectual disability Intellectual Disability - genetics Intellectual Disability - metabolism learning and memory Male neurodevelopmental disorder Protein Domains ras GTPase-Activating Proteins - genetics ras GTPase-Activating Proteins - metabolism rasopathy Rats Seizures - genetics Seizures - metabolism synaptic plasticity SYNGAP1
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!