PAK3 mutation in nonsyndromic X-linked mental retardation

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dc.contributor.authorAllen, K.
dc.contributor.authorGleeson, J.
dc.contributor.authorBagrodia, S.
dc.contributor.authorPartington, M.
dc.contributor.authorMacMillan, J.
dc.contributor.authorCerione, R.
dc.contributor.authorMulley, J.
dc.contributor.authorWalsh, C.
dc.date.issued1998
dc.description.abstractNonsyndromic 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 to cytoskeletal reorganization and to nuclear signalling. The mutation produces premature termination, disrupting kinase function. MRI analysis showed no gross defects in brain development. Immunofluorescence analysis showed that PAK3 protein is highly expressed in postmitotic neurons of the developing and postnatal cerebral cortex and hippocampus. Signal transduction through Rho GTPases and PAK3 may be critical for human cognitive function.
dc.description.statementofresponsibilityKristina M. Allen ; Joseph G. Gleeson ; Shubha Bagrodia ; Michael W. Partington ; John C. Macmillan ; Richard A. Cerione ; John C. Mulley ; Christopher A. Walsh
dc.identifier.citationNature Genetics, 1998; 20(1):25-30
dc.identifier.doi10.1038/1675
dc.identifier.issn1061-4036
dc.identifier.issn1546-1718
dc.identifier.urihttp://hdl.handle.net/2440/11492
dc.language.isoen
dc.publisherSpringer Science and Business Media LLC
dc.source.urihttps://doi.org/10.1038/1675
dc.subjectBrain
dc.subjectCOS Cells
dc.subjectX Chromosome
dc.subjectAnimals
dc.subjectHumans
dc.subjectMice
dc.subjectRats
dc.subjectRecombinant Proteins
dc.subjectFluorescent Antibody Technique, Indirect
dc.subjectCloning, Molecular
dc.subjectPedigree
dc.subjectSequence Analysis, DNA
dc.subjectBase Sequence
dc.subjectMutation
dc.subjectMolecular Sequence Data
dc.subjectFemale
dc.subjectMale
dc.subjectp21-Activated Kinases
dc.subjectIntellectual Disability
dc.subjectProtein Serine-Threonine Kinases
dc.titlePAK3 mutation in nonsyndromic X-linked mental retardation
dc.typeJournal article
pubs.publication-statusPublished

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