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Type: Journal article
Title: PAK3 mutation in nonsyndromic X-linked mental retardation
Author: Allen, K.
Gleeson, J.
Bagrodia, S.
Partington, M.
MacMillan, J.
Cerione, R.
Mulley, J.
Walsh, C.
Citation: Nature Genetics, 1998; 20(1):25-30
Issue Date: 1998
ISSN: 1061-4036
Statement of
Kristina M. Allen ; Joseph G. Gleeson ; Shubha Bagrodia ; Michael W. Partington ; John C. Macmillan ; Richard A. Cerione ; John C. Mulley ; Christopher A. Walsh
Abstract: 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 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.
Keywords: Brain; COS Cells; X Chromosome; Animals; Humans; Mice; Rats; Protein-Serine-Threonine Kinases; Recombinant Proteins; Fluorescent Antibody Technique, Indirect; Cloning, Molecular; Pedigree; Sequence Analysis, DNA; Base Sequence; Mutation; Molecular Sequence Data; Female; Male; p21-Activated Kinases; Intellectual Disability
RMID: 0030004273
DOI: 10.1038/1675
Appears in Collections:Genetics publications

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