A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children-Reference-Cited by-同舟云学术

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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

Published:2023-12 Issue: Volume:149 Page:84-92
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Scorrano Giovanna,D'Onofrio Gianluca^ORCID,Accogli Andrea,Severino Mariasavina^ORCID,Buchert Rebecca^ORCID,Kotzaeridou Urania,Iapadre Giulia,Farello Giovanni^ORCID,Iacomino Michele,Dono Fedele,Di Francesco Ludovica,Fiorile Maria Francesca,La Bella Saverio^ORCID,Corsello Antonio^ORCID,Calì Elisa,Di Rosa Gabriella,Gitto Eloisa,Verrotti Alberto,Fortuna Sara^ORCID,Soler Miguel A.^ORCID,Chiarelli Francesco,Oehl-Jaschkowitz Barbara,Haack Tobias B.,Zara Federico,Striano Pasquale,Salpietro Vincenzo

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference37 articles.

1. De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures;Horn;Brain,2019

2. p21-activated kinases 1 and 3 control brain size through coordinating neuronal complexity and synaptic properties;Huang;Mol Cell Biol,2011

3. Activating mutations in PAK1, encoding p21-activated kinase 1, cause a neurodevelopmental disorder;Harms;Am J Hum Genet,2018

4. A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly;Ohori;J Hum Genet,2020

5. Regulation of hippocampal long-term potentiation by p21-activated protein kinase 1 (PAK1);Asrar;Neuropharmacology,2009

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