Article
Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling.
Cellular and molecular neurobiology - 21 Nov 2024
Guhathakurta Debarpan, Selzam Franziska, Petrušková Aneta, Weiss Eva-Maria, Akdaş Enes Yağız, Montenegro-Venegas Carolina, Zenker Martin, Fejtová Anna
Abstract excerpt
Rasopathies are genetic disorders often associated with developmental delay and intellectual disability. Noonan syndrome (NS) is one of the most common Rasopathies, caused by mutations in PTPN11 in more than 50% of cases. In mammalian neurons, PTPN11 controls the trafficking of postsynaptic glutamate receptors. This process is disrupted in neurons expressing PTPN11 variants associated with Rasopathies and is...
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