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
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
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
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
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