메뉴 건너뛰기




Volumn 266, Issue 3, 1999, Pages 1011-1020

Analysis of lissencephaly-causing LIS1 mutations

Author keywords

LIS1; Lissencephaly; Neuronal migration; Protein folding; WD repeats

Indexed keywords

AGYRIA; ARTICLE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; GENE DELETION; GENE MUTATION; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING;

EID: 0033572772     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1327.1999.00942.x     Document Type: Article
Times cited : (31)

References (46)
  • 1
    • 0028940096 scopus 로고
    • A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
    • 1. D'Arcangelo, G., Miao, G.G., Chen, S.C., Soares, H.D., Morgan, J.I. & Curran, T. (1995) A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature (London) 374, 719-723.
    • (1995) Nature (London) , vol.374 , pp. 719-723
    • D'Arcangelo, G.1    Miao, G.G.2    Chen, S.C.3    Soares, H.D.4    Morgan, J.I.5    Curran, T.6
  • 6
    • 0031018336 scopus 로고    scopus 로고
    • Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality
    • 6. Chae, T., Kwon, Y.T., Bronson, R., Dikkes, P., Li, E. & Tsai, L.-H. (1997) Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality. Neuron 18, 29-42.
    • (1997) Neuron , vol.18 , pp. 29-42
    • Chae, T.1    Kwon, Y.T.2    Bronson, R.3    Dikkes, P.4    Li, E.5    Tsai, L.-H.6
  • 9
    • 0027486966 scopus 로고
    • Lissencephaly: A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
    • 9. Dobyns, W.B., Reiner, O., Carrozzo, R. & Ledbetter, D.H. (1993) Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. J. Am. Med Assoc. 270, 2838-2842.
    • (1993) J. Am. Med Assoc. , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3    Ledbetter, D.H.4
  • 10
    • 0031040866 scopus 로고    scopus 로고
    • Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
    • 10. Lo Nigro, C.L., Chong, C.S., Smith, A.C., Dobyns, W.B., Carrozzo, R. & Ledbetter, D.H. (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum. Mol. Genet. 6, 157-164.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 157-164
    • Lo Nigro, C.L.1    Chong, C.S.2    Smith, A.C.3    Dobyns, W.B.4    Carrozzo, R.5    Ledbetter, D.H.6
  • 11
    • 0032057722 scopus 로고    scopus 로고
    • Abnormal cortical development: Towards elucidation of the LIS1 gene product function
    • 11. Reiner, O. & Sapir, T. (1998) Abnormal cortical development: towards elucidation of the LIS1 gene product function. Int. J. Mol. Med. 1, 849-853.
    • (1998) Int. J. Mol. Med. , vol.1 , pp. 849-853
    • Reiner, O.1    Sapir, T.2
  • 14
    • 0028076764 scopus 로고
    • The ancient regulalory-protein family of WD-repeat proteins
    • 14. Neer, E.J., Schmidt, C.J., Nambudripad, R. & Smith, T.F. (1994) The ancient regulalory-protein family of WD-repeat proteins. Nature (London) 371, 297-300.
    • (1994) Nature (London) , vol.371 , pp. 297-300
    • Neer, E.J.1    Schmidt, C.J.2    Nambudripad, R.3    Smith, T.F.4
  • 15
    • 4243134624 scopus 로고
    • Repetitive segmental structure of the transducin β subunit: Homology with the CDC4 gene and identification of related mRNAs
    • 15. Fong, H.K.W., Hurley, J.B., Hopkins, R.S., Miake-Lye, R., Johnson, M.S., Doolittle, R.F. & Simon, M.I. (1986) Repetitive segmental structure of the transducin β subunit: homology with the CDC4 gene and identification of related mRNAs. Proc. Natl Acad. Sci. USA. 83, 2162-2166.
    • (1986) Proc. Natl Acad. Sci. USA , vol.83 , pp. 2162-2166
    • Fong, H.K.W.1    Hurley, J.B.2    Hopkins, R.S.3    Miake-Lye, R.4    Johnson, M.S.5    Doolittle, R.F.6    Simon, M.I.7
  • 16
    • 0029854139 scopus 로고    scopus 로고
    • Folding of proteins with WD-repeats: Comparison of six members of the WD-repeat super-family to the G protein β subunit
    • 16. Garcia-Higuera, I., Fenoglio, J., Li, Y., Lewis, C., Panchenko, M.P., Reiner, O., Smith, T.F. & Neer, E.J. (1996) Folding of proteins with WD-repeats: comparison of six members of the WD-repeat super-family to the G protein β subunit. Biochemistry 35, 13985-13994.
    • (1996) Biochemistry , vol.35 , pp. 13985-13994
    • Garcia-Higuera, I.1    Fenoglio, J.2    Li, Y.3    Lewis, C.4    Panchenko, M.P.5    Reiner, O.6    Smith, T.F.7    Neer, E.J.8
  • 19
    • 0030069667 scopus 로고    scopus 로고
    • G protein heterodimers: New structures propel new questions
    • 19. Neer, E.J. & Smith, T.F. (1996) G protein heterodimers: new structures propel new questions. Cell 84, 175-178.
    • (1996) Cell , vol.84 , pp. 175-178
    • Neer, E.J.1    Smith, T.F.2
  • 20
    • 0028023599 scopus 로고
    • Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor
    • 20. Hattori, M., Adachi, H., Tsujimoto, M., Arai, N. & Inoue, K. (1994) Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature (London) 370, 216-218.
    • (1994) Nature (London) , vol.370 , pp. 216-218
    • Hattori, M.1    Adachi, H.2    Tsujimoto, M.3    Arai, N.4    Inoue, K.5
  • 21
    • 0022555858 scopus 로고
    • Platelet activating factor: A biologically active phosphoglyceride
    • 21. Hanahan, D.J. (1986) Platelet activating factor: a biologically active phosphoglyceride. Annu. Rev. Biochem. 55, 483-509.
    • (1986) Annu. Rev. Biochem. , vol.55 , pp. 483-509
    • Hanahan, D.J.1
  • 22
    • 0024395471 scopus 로고
    • Platelet-activating factor: A paracrine factor in preimplantation stages of reproduction?
    • 22. Harper, M.J. (1989) Platelet-activating factor: a paracrine factor in preimplantation stages of reproduction? Biol. Reprod. 40, 907-913.
    • (1989) Biol. Reprod. , vol.40 , pp. 907-913
    • Harper, M.J.1
  • 23
    • 0027169561 scopus 로고
    • Platelet-activating factor: Receptors and signal transduction
    • 23. Chao, W. & Olson, M.S. (1993) Platelet-activating factor: receptors and signal transduction. Biochem. J. 292, 617-629.
    • (1993) Biochem. J. , vol.292 , pp. 617-629
    • Chao, W.1    Olson, M.S.2
  • 24
    • 0025823829 scopus 로고
    • Platelet activating factor (PAF). A review of its effects, antagonists and possible future clinical implications (Part I)
    • 24. Koltai, M., Hosford, D., Guinot, P., Esanu, A. & Braquet, P. (1991) Platelet activating factor (PAF). A review of its effects, antagonists and possible future clinical implications (Part I). Drugs 42, 9-29.
    • (1991) Drugs , vol.42 , pp. 9-29
    • Koltai, M.1    Hosford, D.2    Guinot, P.3    Esanu, A.4    Braquet, P.5
  • 25
    • 0024295774 scopus 로고
    • Neuroregulatory and neuropathological actions of the ether-phospholipid platelet-activating factor
    • 25. Kornecki, E. & Ehrlich, Y.H. (1988) Neuroregulatory and neuropathological actions of the ether-phospholipid platelet-activating factor. Science 240, 1792-1794.
    • (1988) Science , vol.240 , pp. 1792-1794
    • Kornecki, E.1    Ehrlich, Y.H.2
  • 27
    • 0028144638 scopus 로고
    • Platelet-activating factor: A putative neuromodulator and mediator in the pathophysiology of brain injury
    • 27. Yue, T.L. & Feuerstein, G.Z. (1994) Platelet-activating factor: a putative neuromodulator and mediator in the pathophysiology of brain injury. Crit. Rev. Neurobiol. 8, 11-24.
    • (1994) Crit. Rev. Neurobiol. , vol.8 , pp. 11-24
    • Yue, T.L.1    Feuerstein, G.Z.2
  • 28
    • 0027164501 scopus 로고
    • Purification and characterization of bovine brain platelet-activating factor acetylhydrolase
    • 28. Hattori, M., Aral, H. & Inoue, K. (1993) Purification and characterization of bovine brain platelet-activating factor acetylhydrolase. J. Biol. Chem. 268, 18748-18753.
    • (1993) J. Biol. Chem. , vol.268 , pp. 18748-18753
    • Hattori, M.1    Aral, H.2    Inoue, K.3
  • 29
    • 0030695246 scopus 로고    scopus 로고
    • Reduction of microtubule catastrophe events by LIS1. Platelet-activating factor acetylhydrolase subunit
    • 29. Sapir, T., Elbaum, M. & Reiner, O. (1997) Reduction of microtubule catastrophe events by LIS1. platelet-activating factor acetylhydrolase subunit. EMBO J. 16, 6977-6984.
    • (1997) EMBO J. , vol.16 , pp. 6977-6984
    • Sapir, T.1    Elbaum, M.2    Reiner, O.3
  • 33
    • 0014949207 scopus 로고
    • Cleavage of structural protein during assembly of the head of bacteriophage T4
    • 33. Laemmli, U.K. (1970) Cleavage of structural protein during assembly of the head of bacteriophage T4. Nature (London) 227, 680-685.
    • (1970) Nature (London) , vol.227 , pp. 680-685
    • Laemmli, U.K.1
  • 35
    • 0021104775 scopus 로고
    • Molecular dynamics of native protein, I: Computer simulation of trajectories
    • 35. Levitt, M. (1983) Molecular dynamics of native protein, I: Computer simulation of trajectories. J. Mol. Biol. 168, 595-620.
    • (1983) J. Mol. Biol. , vol.168 , pp. 595-620
    • Levitt, M.1
  • 37
    • 0026551323 scopus 로고
    • Biospecific interaction analysis using surface plasmon resonance detection applied to kinetic, binding site and concentration analysis
    • 37. Fagerstam, L.G., Frostell-Karlsson, A., Karlsson, R., Persson, B. & Ronnberg, I. (1992) Biospecific interaction analysis using surface plasmon resonance detection applied to kinetic, binding site and concentration analysis. J. Chromatogr. 597, 397-410.
    • (1992) J. Chromatogr. , vol.597 , pp. 397-410
    • Fagerstam, L.G.1    Frostell-Karlsson, A.2    Karlsson, R.3    Persson, B.4    Ronnberg, I.5
  • 38
    • 0000293376 scopus 로고
    • Real time biospecific interaction analysis. The integration of surface plasmon resonance detection, general biospecific interface chemistry, and microfluidics into one analytical system
    • Turner, A., ed. JAI Press, London
    • 38. Jonsson, U. & Malmqvist, M. (1992) Real time biospecific interaction analysis. the integration of surface plasmon resonance detection, general biospecific interface chemistry, and microfluidics into one analytical system. In Advances in Biosensors (Turner, A., ed.), pp. 291-336. JAI Press, London.
    • (1992) Advances in Biosensors , pp. 291-336
    • Jonsson, U.1    Malmqvist, M.2
  • 39
    • 0027916175 scopus 로고
    • Biospecific interaction analysis using biosensor technology
    • 39. Malmqvist, M. (1993) Biospecific interaction analysis using biosensor technology. Nature (London) 361, 186-187.
    • (1993) Nature (London) , vol.361 , pp. 186-187
    • Malmqvist, M.1
  • 40
    • 0029644480 scopus 로고
    • BIAcore: A microchip-based system for analyzing the formation of macromolecular complexes
    • 40. Raghvan, M. & Bjorkman, P.J. (1995) BIAcore: a microchip-based system for analyzing the formation of macromolecular complexes. Structure 15, 331-333.
    • (1995) Structure , vol.15 , pp. 331-333
    • Raghvan, M.1    Bjorkman, P.J.2
  • 41
    • 0028158628 scopus 로고
    • PHD, an automatic mail server for protein secondary structure prediction
    • 41. Rost, B., Sander, C. & Schneider, R. (1994) PHD, an automatic mail server for protein secondary structure prediction. Comput. Appl. Biosci. 10, 53-60.
    • (1994) Comput. Appl. Biosci. , vol.10 , pp. 53-60
    • Rost, B.1    Sander, C.2    Schneider, R.3
  • 44
    • 0028951861 scopus 로고
    • NudF, a nuclear migration gene in Aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration
    • 44. Xiang, X., Osmani, A.H., Osmani, S.A., Xin, M. & Morris, N.R. (1995) NudF, a nuclear migration gene in Aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration. Mol. Biol. Cell. 6, 297-310.
    • (1995) Mol. Biol. Cell. , vol.6 , pp. 297-310
    • Xiang, X.1    Osmani, A.H.2    Osmani, S.A.3    Xin, M.4    Morris, N.R.5
  • 46
    • 0031964392 scopus 로고    scopus 로고
    • G proteins propel surprise
    • 46. Iiri, T. & Bourne, H.R. (1998) G proteins propel surprise. Nat. Genet. 18, 8-10.
    • (1998) Nat. Genet. , vol.18 , pp. 8-10
    • Iiri, T.1    Bourne, H.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.