Associated Papers
Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.
Dobrigna M et al.
Neurobiology of Disease, 2025
RNA variant assessment using transactivation and transdifferentiation.
Nicolas-Martinez EC et al.
American Journal of Human Genetics, 2024
Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.
Scala M et al.
Cells, 2021
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Pascolini G et al.
Journal of Molecular Neuroscience : Mn, 2021
Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities.
Liaci C et al.
International Journal of Molecular Sciences, 2021
The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis.
Castillon C et al.
Human Molecular Genetics, 2020
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
Duarte K et al.
Neurobiology of Disease, 2020
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
Qian Y et al.
Bmc Medical Genetics, 2020
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A et al.
Cold Spring Harbor Molecular Case Studies, 2019
Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
Zamboni V et al.
International Journal of Molecular Sciences, 2018
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
Horvath GA et al.
Journal of Child Neurology, 2018
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Hertecant J et al.
European Journal of Medical Genetics, 2017
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P et al.
Human Molecular Genetics, 2014
The p21-activated kinase PAK3 forms heterodimers with PAK1 in brain implementing trans-regulation of PAK3 activity.
Combeau G et al.
The Journal of Biological Chemistry, 2012
Emerging major synaptic signaling pathways involved in intellectual disability.
Pavlowsky A et al.
Molecular Psychiatry, 2012
PAK in Alzheimer disease, Huntington disease and X-linked mental retardation.
Ma QL et al.
Cellular Logistics, 2012
p21-Activated kinase 3 (PAK3) protein regulates synaptic transmission through its interaction with the Nck2/Grb4 protein adaptor.
Thévenot E et al.
The Journal of Biological Chemistry, 2011
X-linked mental retardation: focus on synaptic function and plasticity.
Humeau Y et al.
Journal of Neurochemistry, 2009
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
Rejeb I et al.
European Journal of Human Genetics : Ejhg, 2008
Rho-linked genes and neurological disorders.
Nadif Kasri N et al.
Pflugers Archiv : European Journal of Physiology, 2008
Diverse roles of Rho family GTPases in neuronal development, survival, and death.
Linseman DA et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
PAK3 related mental disability: further characterization of the phenotype.
Peippo M et al.
American Journal of Medical Genetics. Part A, 2007
The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway.
Kreis P et al.
The Journal of Biological Chemistry, 2007
Dysfunction of amyloid precursor protein signaling in neurons leads to DNA synthesis and apoptosis.
Neve RL et al.
Biochimica Et Biophysica Acta, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP et al.
Human Mutation, 2007
X linked mental retardation: a clinical guide.
Raymond FL
Journal of Medical Genetics, 2006
The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus.
Boda B et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
Gedeon AK et al.
American Journal of Medical Genetics. Part A, 2003
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.
Ahmad W et al.
American Journal of Medical Genetics, 2001
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Bienvenu T et al.
American Journal of Medical Genetics, 2000
Signals from the X: signal transduction and X-linked mental retardation.
Barnes AP et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 0