Article
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Pediatric neurology - 1 Dec 2023
Scorrano Giovanna, D'Onofrio Gianluca, Accogli Andrea, Severino Mariasavina, Buchert Rebecca, Kotzaeridou Urania, Iapadre Giulia, Farello Giovanni, Iacomino Michele, Dono Fedele, Di Francesco Ludovica, Fiorile Maria Francesca, La Bella Saverio, Corsello Antonio, Calì Elisa, Di Rosa Gabriella, Gitto Eloisa, Verrotti Alberto, Fortuna Sara, Soler Miguel A, Chiarelli Francesco, Oehl-Jaschkowitz Barbara, Haack Tobias B, Zara Federico, Striano Pasquale, Salpietro Vincenzo
Abstract excerpt
BACKGROUND: P-21-activated kinases (PAKs) are protein serine/threonine kinases, part of the RAS/mitogen-activated protein kinase pathway. PAK1 is highly expressed in the central nervous system and crucially involved in neuronal migration and brain developmental processes. Recently, de novo heterozygous missense variants in PAK1 have been identified as an ultrarare cause of pediatric neurodevelopmental disorders....
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