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Article

PAK3 mutation in nonsyndromic X-linked mental retardation.

Nature genetics - 1 Sept 1998

Allen K M, Gleeson J G, Bagrodia S, Partington M W, MacMillan J C, Cerione R A, Mulley J C, Walsh C A

Abstract excerpt

Nonsyndromic X-linked mental retardation (MRX) syndromes are clinically homogeneous but genetically heterogeneous disorders, whose genetic bases are largely unknown. Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase. PAK proteins are crucial effectors linking Rho GTPases...

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Identifiers

PMID: 9731525
DOI: 10.1038/1675

Genes

PAK3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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PAK3 mutation in nonsyndromic X-linked mental retardation.PMID 9731525Read ↗

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.Semantic proximity Read ↗

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.Semantic proximity Read ↗

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.Semantic proximity Read ↗

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.Semantic proximity Read ↗

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.Semantic proximity Read ↗

Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.Semantic proximity Read ↗

The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway.Semantic proximity Read ↗

PAK in Alzheimer disease, Huntington disease and X-linked mental retardationSemantic proximity Read ↗

PAK3 related mental disability: further characterization of the phenotype.Semantic proximity Read ↗

The p21-activated kinase PAK3 forms heterodimers with PAK1 in brain implementing trans-regulation of PAK3 activity.Semantic proximity Read ↗

The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotypeSemantic proximity Read ↗

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.Semantic proximity Read ↗

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