메뉴 건너뛰기




Volumn 20, Issue 1, 1998, Pages 25-30

PAK3 mutation in nonsyndromic X-linked mental retardation

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GUANOSINE TRIPHOSPHATASE; PAK 3 PROTEIN; PROTEIN P21; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG;

EID: 0031710557     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1675     Document Type: Article
Times cited : (400)

References (36)
  • 1
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • Gleeson, J.G. et al. doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92, 63-72 (1998).
    • (1998) Cell , vol.92 , pp. 63-72
    • Gleeson, J.G.1
  • 2
    • 0031865393 scopus 로고    scopus 로고
    • Mind the GAP, Rho, Rab and GDI
    • Antonarakis, S. & Van Aelst, L. Mind the GAP, Rho, Rab and GDI. Nature Genet. 19, 106-108 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 106-108
    • Antonarakis, S.1    Van Aelst, L.2
  • 3
    • 0030580974 scopus 로고    scopus 로고
    • How many X-linked genes for nonspecific mental retardation (MRX) are there?
    • Gedeon, A., Donnelly, A., Mulley, J., Kerr, B. & Turner, G. How many X-linked genes for nonspecific mental retardation (MRX) are there? Am. J. Med. Genet. 64, 158-162 (1996).
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 158-162
    • Gedeon, A.1    Donnelly, A.2    Mulley, J.3    Kerr, B.4    Turner, G.5
  • 4
    • 17344369362 scopus 로고    scopus 로고
    • Mutations in GDI1 are responsible for X-linked non-specific mental retardation
    • D'Adamo, P. et al. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nature Genet. 19, 134-139 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 134-139
    • D'Adamo, P.1
  • 5
    • 0030137717 scopus 로고    scopus 로고
    • Identification of the gene, FMR2, associated with FRAXE mental retardation
    • Gecz, J., Gedeon, A., Sutherland, G. & Mulley, J. Identification of the gene, FMR2, associated with FRAXE mental retardation. Nature Genet. 13, 105-108 (1996).
    • (1996) Nature Genet. , vol.13 , pp. 105-108
    • Gecz, J.1    Gedeon, A.2    Sutherland, G.3    Mulley, J.4
  • 6
    • 0028961293 scopus 로고
    • Rho, Rac, and Cdc42 GTPases regulate the assembly of multimolecular focal complexes associated with actin stress fibers, lamellipodia, and filopodia
    • Nobes, C. & Hall, A. Rho, Rac, and Cdc42 GTPases regulate the assembly of multimolecular focal complexes associated with actin stress fibers, lamellipodia, and filopodia. Cell 81, 53-62 (1995).
    • (1995) Cell , vol.81 , pp. 53-62
    • Nobes, C.1    Hall, A.2
  • 7
    • 0031913612 scopus 로고    scopus 로고
    • Drosophila Rac1 controls motor axon guidance
    • Kaufmann, N., Wills, Z.P. & Van Vactor, D. Drosophila Rac1 controls motor axon guidance. Development 125, 453-461 (1998).
    • (1998) Development , vol.125 , pp. 453-461
    • Kaufmann, N.1    Wills, Z.P.2    Van Vactor, D.3
  • 8
    • 0028086441 scopus 로고
    • Distinct morphogenetic roles of similar small GTPases: Drosophila Drac1 is involved in axonal outgrowth and myoblast fusion
    • Luo, L., Liao, Y., Jan, L. & Jan, Y. Distinct morphogenetic roles of similar small GTPases: Drosophila Drac1 is involved in axonal outgrowth and myoblast fusion. Genes Dev. 8, 1787-1802 (1994).
    • (1994) Genes Dev. , vol.8 , pp. 1787-1802
    • Luo, L.1    Liao, Y.2    Jan, L.3    Jan, Y.4
  • 9
    • 0031065475 scopus 로고    scopus 로고
    • Rho family small GTP-binding proteins in growth cone signalling
    • Luo, L., Jan, L. & Jan, Y. Rho family small GTP-binding proteins in growth cone signalling. Curr. Opin. Neurobiol. 7, 81-86 (1997).
    • (1997) Curr. Opin. Neurobiol. , vol.7 , pp. 81-86
    • Luo, L.1    Jan, L.2    Jan, Y.3
  • 10
    • 0030866898 scopus 로고    scopus 로고
    • Role of a new rho family member in cell migration and axon guidance in C. elegans
    • Zipkin, I., Kindt, R. & Kenyon, C. Role of a new rho family member in cell migration and axon guidance in C. elegans. Cell 90, 883-694 (1997).
    • (1997) Cell , vol.90 , pp. 883-1694
    • Zipkin, I.1    Kindt, R.2    Kenyon, C.3
  • 11
    • 0030982564 scopus 로고    scopus 로고
    • Regulation of dendritic growth and remodeling by Rho, Rac, and Cdc42
    • Threadgill, R., Bobb, K. & Ghosh, A. Regulation of dendritic growth and remodeling by Rho, Rac, and Cdc42. Neuron 19, 625-634 (1997).
    • (1997) Neuron , vol.19 , pp. 625-634
    • Threadgill, R.1    Bobb, K.2    Ghosh, A.3
  • 12
    • 0030026182 scopus 로고    scopus 로고
    • Differential effects of the Rac GTPase on Purkinje cell axons and dendritic trunks and spines
    • Luo, L. et al. Differential effects of the Rac GTPase on Purkinje cell axons and dendritic trunks and spines. Nature 379, 837-840 (1996).
    • (1996) Nature , vol.379 , pp. 837-840
    • Luo, L.1
  • 13
    • 0032169703 scopus 로고    scopus 로고
    • A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin and PAK3
    • in press
    • Allen, K., Gleeson, J., Shoup, S. & Walsh, C. A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin and PAK3. Genomics, in press.
    • Genomics
    • Allen, K.1    Gleeson, J.2    Shoup, S.3    Walsh, C.4
  • 15
    • 0028862297 scopus 로고
    • Molecular cloning of a new member of the p21-Cdc42/Rac-activated kinase (PAK) family
    • Manser, E. et al. Molecular cloning of a new member of the p21-Cdc42/Rac-activated kinase (PAK) family. J. Biol. Chem. 270, 25070-25078 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 25070-25078
    • Manser, E.1
  • 16
    • 0029684555 scopus 로고    scopus 로고
    • End rescue from YACs using the vectorette
    • Ogilvie, D.J. & James, L.A. End rescue from YACs using the vectorette. Methods Mol. Biol. 54, 131-138 (1996).
    • (1996) Methods Mol. Biol. , vol.54 , pp. 131-138
    • Ogilvie, D.J.1    James, L.A.2
  • 17
    • 0030011779 scopus 로고    scopus 로고
    • Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31)
    • Donnelly, A.J., Partington, M.W., Ryan, A.K. & Mulley, J.C. Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). Am. J. Med. Genet. 64, 113-120 (1996).
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 113-120
    • Donnelly, A.J.1    Partington, M.W.2    Ryan, A.K.3    Mulley, J.C.4
  • 18
    • 0029911521 scopus 로고    scopus 로고
    • Interaction of the Nck adapter protein with p21-activated kinase (PAK1)
    • Bokoch, G.M. et al. Interaction of the Nck adapter protein with p21-activated kinase (PAK1). J. Biol. Chem. 271, 25746-25749 (1996).
    • (1996) J. Biol. Chem. , vol.271 , pp. 25746-25749
    • Bokoch, G.M.1
  • 19
    • 0026345394 scopus 로고
    • Protein kinase catalytic domain sequence database: Identification of conserved features of primary structure and classification of family members
    • Hanks, S.K. & Quinn, A.M. Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members. Methods Enzymol. 200, 38-62 (1991).
    • (1991) Methods Enzymol. , vol.200 , pp. 38-62
    • Hanks, S.K.1    Quinn, A.M.2
  • 20
    • 0031105660 scopus 로고    scopus 로고
    • Human p21-activated kinase (Pak1) regulates actin organization in mammalian cells
    • Sells, M.A. et al. Human p21-activated kinase (Pak1) regulates actin organization in mammalian cells. Curr. Biol. 7, 202-210 (1997).
    • (1997) Curr. Biol. , vol.7 , pp. 202-210
    • Sells, M.A.1
  • 21
    • 0030043924 scopus 로고    scopus 로고
    • Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24
    • Gregg, R.G., Palmer, C., Kirkpatrick, S. & Simantel, A. Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24. Hum. Mol. Genet. 5, 411-414 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 411-414
    • Gregg, R.G.1    Palmer, C.2    Kirkpatrick, S.3    Simantel, A.4
  • 22
    • 0030044978 scopus 로고    scopus 로고
    • Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35)
    • Gu, X.X. et al. Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). J. Med. Genet. 33, 52-55 (1996).
    • (1996) J. Med. Genet. , vol.33 , pp. 52-55
    • Gu, X.X.1
  • 23
    • 0030754979 scopus 로고    scopus 로고
    • Epilepsy and mental retardation limited to females: An X-linked dominant disorder with male sparing
    • Ryan, S.G. et al. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nature Genet. 17, 92-95 (1997).
    • (1997) Nature Genet. , vol.17 , pp. 92-95
    • Ryan, S.G.1
  • 24
    • 0029937013 scopus 로고    scopus 로고
    • X-linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq
    • Illarioshkin, S.N. et al. X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. Ann. Neurol. 40, 75-83 (1996).
    • (1996) Ann. Neurol. , vol.40 , pp. 75-83
    • Illarioshkin, S.N.1
  • 25
    • 0032580161 scopus 로고    scopus 로고
    • Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    • Billuart, P. et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392, 923-926 (1998).
    • (1998) Nature , vol.392 , pp. 923-926
    • Billuart, P.1
  • 26
    • 0028875683 scopus 로고
    • Cdc42 and PAK-mediated signaling leads to Jun kinase and p38 mitogen-activated protein kinase activation
    • Bagrodia, S., Derijard, B., Davis, R.J. & Cerione, R.A. Cdc42 and PAK-mediated signaling leads to Jun kinase and p38 mitogen-activated protein kinase activation. J. Biol. Chem. 270, 27995-27998 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 27995-27998
    • Bagrodia, S.1    Derijard, B.2    Davis, R.J.3    Cerione, R.A.4
  • 27
    • 0032078861 scopus 로고    scopus 로고
    • Rapid actin-based plasticity in dendritic spines
    • Fischer, M., Kaech, S., Knutti, D. & Matus, A. Rapid actin-based plasticity in dendritic spines. Neuron 20, 847-654 (1998).
    • (1998) Neuron , vol.20 , pp. 847-1654
    • Fischer, M.1    Kaech, S.2    Knutti, D.3    Matus, A.4
  • 28
    • 0028820587 scopus 로고
    • Rho family GTPases regulate p38 mitogen-activated protein kinase through the downstream mediator Pak1
    • Zhang, S. et al. Rho family GTPases regulate p38 mitogen-activated protein kinase through the downstream mediator Pak1. J. Biol. Chem. 270, 23934-23936 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 23934-23936
    • Zhang, S.1
  • 29
    • 0030134625 scopus 로고    scopus 로고
    • Human Ste20 homologue hPAK1 links GTPases to the JNK MAP kinase pathway
    • Brown, J. et al. Human Ste20 homologue hPAK1 links GTPases to the JNK MAP kinase pathway. Curr. Biol. 6, 598-605 (1996).
    • (1996) Curr. Biol. , vol.6 , pp. 598-605
    • Brown, J.1
  • 30
    • 0032032006 scopus 로고    scopus 로고
    • Cognitive neuroscience and the study of memory
    • Milner, B., Squire, L.R. & Kandel, E.R. Cognitive neuroscience and the study of memory. Neuron 20, 445-468 (1998).
    • (1998) Neuron , vol.20 , pp. 445-468
    • Milner, B.1    Squire, L.R.2    Kandel, E.R.3
  • 31
    • 0031042174 scopus 로고    scopus 로고
    • A domain containing the Cdc42/Rac interactive binding (CRIB) region of p65PAK inhibits transcriptional activation and cell transformation mediated by the Ras-Rac pathway
    • Osada, S., Izawa, M., Koyama, T., Hirai, S. & Ohno, S. A domain containing the Cdc42/Rac interactive binding (CRIB) region of p65PAK inhibits transcriptional activation and cell transformation mediated by the Ras-Rac pathway. FEBS Lett. 404, 227-233 (1997).
    • (1997) FEBS Lett. , vol.404 , pp. 227-233
    • Osada, S.1    Izawa, M.2    Koyama, T.3    Hirai, S.4    Ohno, S.5
  • 32
    • 0032472918 scopus 로고    scopus 로고
    • Membrane targeting of p21-activated kinase 1 (PAK1) induces neurite outgrowth from PC12 cells
    • Daniels, R.H., Hall, P.S. & Bokoch, G.M. Membrane targeting of p21-activated kinase 1 (PAK1) induces neurite outgrowth from PC12 cells. EMBO J. 17, 754-764 (1998).
    • (1998) EMBO J. , vol.17 , pp. 754-764
    • Daniels, R.H.1    Hall, P.S.2    Bokoch, G.M.3
  • 33
    • 0029830139 scopus 로고    scopus 로고
    • The adaptor protein Nck links receptor tyrosine kinases with the serine- Threonine kinase Pak1
    • Galisteo, M.L., Chernoff, J., Su, Y.C., Skolnik, E.Y. & Schlessinger, J. The adaptor protein Nck links receptor tyrosine kinases with the serine- threonine kinase Pak1. J. Biol. Chem. 271, 20997-21000 (1996).
    • (1996) J. Biol. Chem. , vol.271 , pp. 20997-21000
    • Galisteo, M.L.1    Chernoff, J.2    Su, Y.C.3    Skolnik, E.Y.4    Schlessinger, J.5
  • 34
    • 0031080595 scopus 로고    scopus 로고
    • Activation of Pak by membrane localization mediated by an SH3 domain from the adaptor protein Nck
    • Lu, W., Katz, S., Gupta, R. & Mayer, B. Activation of Pak by membrane localization mediated by an SH3 domain from the adaptor protein Nck. Curr. Biol. 7, 85-94 (1997).
    • (1997) Curr. Biol. , vol.7 , pp. 85-94
    • Lu, W.1    Katz, S.2    Gupta, R.3    Mayer, B.4
  • 35
    • 0031036626 scopus 로고    scopus 로고
    • Expression of constitutively active α-PAK reveals effects of the kinase on actin and focal complexes
    • Manser, E. et al. Expression of constitutively active α-PAK reveals effects of the kinase on actin and focal complexes. Mol. Cell Biol. 17, 1129-1143 (1997).
    • (1997) Mol. Cell Biol. , vol.17 , pp. 1129-1143
    • Manser, E.1
  • 36
    • 0025355933 scopus 로고
    • Immature cortical neurons are uniquely sensitive to glutamate toxicity by inhibition of cystine uptake
    • Murphy, T., Schnaar, R. & Coyle, J. Immature cortical neurons are uniquely sensitive to glutamate toxicity by inhibition of cystine uptake. FASEB J. 4, 1624-1633 (1990).
    • (1990) FASEB J. , vol.4 , pp. 1624-1633
    • Murphy, T.1    Schnaar, R.2    Coyle, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.