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Volumn 14, Issue 2, 1996, Pages 157-162

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 4 PHOSPHATE KINASE;

EID: 0029840038     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1096-157     Document Type: Article
Times cited : (71)

References (20)
  • 1
    • 0023751357 scopus 로고
    • Mapping of mutation causing Friedreich's ataxia to human chromosome 9
    • Chamberlain, S. et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334, 248-249 (1988).
    • (1988) Nature , vol.334 , pp. 248-249
    • Chamberlain, S.1
  • 2
    • 0028229122 scopus 로고
    • Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval
    • Rodius, F. et al. Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. Am. J. Hum. Genet. 54, 1050-1059 (1994).
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 1050-1059
    • Rodius, F.1
  • 3
    • 0028246681 scopus 로고
    • The Friedreich ataxia region: Characterization of two novel genes and reduction of the critical region to 300kb
    • Duclos, F., Rodius, F., Wrogemann, K., Mandel, J.L. & Koenig, M. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300kb. Hum. Molec. Genet. 3, 909-914 (1994).
    • (1994) Hum. Molec. Genet. , vol.3 , pp. 909-914
    • Duclos, F.1    Rodius, F.2    Wrogemann, K.3    Mandel, J.L.4    Koenig, M.5
  • 4
    • 0028819669 scopus 로고
    • The Friedreich ataxia region spans a 150-kb interval on chromosome 9q13
    • Montermini, L et al. The Friedreich ataxia region spans a 150-kb interval on chromosome 9q13. Am. J. Hum. Genet. 57, 1061-1067 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1061-1067
    • Montermini, L.1
  • 5
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA repeat expansion
    • Campuzano, V. et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA repeat expansion. Science 271, 1423-1427 (1996).
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1
  • 6
    • 0029092343 scopus 로고
    • Friedreich's ataxia: A defect in signal transduction?
    • Carvajal, J.J. et al. Friedreich's ataxia: a defect in signal transduction? Hum. Molec. Genet. 4, 1411-1419 (1995).
    • (1995) Hum. Molec. Genet. , vol.4 , pp. 1411-1419
    • Carvajal, J.J.1
  • 7
    • 0028218165 scopus 로고
    • Genetic interactions among genes involved in the STT4-PKC1 pathway of Saccharomyces cerevisiae
    • Yoshida, S., Ohya, Y., Nakano, A. & Anraku, Y. Genetic interactions among genes involved in the STT4-PKC1 pathway of Saccharomyces cerevisiae. Molec. Gen. Genet. 242, 631-640 (1994).
    • (1994) Molec. Gen. Genet. , vol.242 , pp. 631-640
    • Yoshida, S.1    Ohya, Y.2    Nakano, A.3    Anraku, Y.4
  • 8
    • 0025343605 scopus 로고
    • Molecular cloning of a tissue-specific protein kinase (C gamma) from human testis-representing a third isoform for the catalytic subunit of cAMP-dependent protein kinase
    • Beebe, S.J. et al. Molecular cloning of a tissue-specific protein kinase (C gamma) from human testis-representing a third isoform for the catalytic subunit of cAMP-dependent protein kinase. Molec. Endocrinol. 4, 465-475 (1990).
    • (1990) Molec. Endocrinol. , vol.4 , pp. 465-475
    • Beebe, S.J.1
  • 9
    • 0029057336 scopus 로고
    • A single Ataxia Telangiectasia gene with a product similar to PI-3 kinase
    • Savitsky, K. et al. A single Ataxia Telangiectasia gene with a product similar to PI-3 kinase. Science 268, 1749-1753 (1995).
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1
  • 10
    • 13344250473 scopus 로고    scopus 로고
    • Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor
    • Matsumoto, M. et al. Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Nature 379, 168-171 (1996).
    • (1996) Nature , vol.379 , pp. 168-171
    • Matsumoto, M.1
  • 11
    • 0028812255 scopus 로고
    • The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases
    • Boronenkov, I.V. & Anderson, R.A. The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases. J. Biol. Chem. 270, 2881-2884 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 2881-2884
    • Boronenkov, I.V.1    Anderson, R.A.2
  • 13
    • 0029968296 scopus 로고    scopus 로고
    • Phosphoinositides as regulators in membrane traffic
    • De Camilli, P., Emr, S.D., McPherson, P.S. & Novick, P. Phosphoinositides as regulators in membrane traffic. Science 271, 1533-1539 (1996).
    • (1996) Science , vol.271 , pp. 1533-1539
    • De Camilli, P.1    Emr, S.D.2    McPherson, P.S.3    Novick, P.4
  • 14
    • 0028346383 scopus 로고
    • Type I phosphatidylinositol-4-phosphate 5-kinase isoforms are specifically stimulated by phosphatidic acid
    • Jenkins, G.H., Fisette, P.L. & Anderson, R.A. Type I phosphatidylinositol-4-phosphate 5-kinase isoforms are specifically stimulated by phosphatidic acid. J. Biol. Chem. 269, 11547-11554 (1994).
    • (1994) J. Biol. Chem. , vol.269 , pp. 11547-11554
    • Jenkins, G.H.1    Fisette, P.L.2    Anderson, R.A.3
  • 15
    • 0025163075 scopus 로고
    • The human erythrocyte contains two forms of phosphatidylinositol-4-phosphate 5-kinase which are differentially active toward membranes
    • Bazenet, C.E., Ruano, A.R., Brockman, J.L. & Anderson, R.A. The human erythrocyte contains two forms of phosphatidylinositol-4-phosphate 5-kinase which are differentially active toward membranes. J. Biol.Chem. 265, 18012-18022 (1990).
    • (1990) J. Biol.Chem. , vol.265 , pp. 18012-18022
    • Bazenet, C.E.1    Ruano, A.R.2    Brockman, J.L.3    Anderson, R.A.4
  • 16
    • 0028036684 scopus 로고
    • The small GTP-binding protein Rho regulates a phosphatidylinositol-4-phosphate 5-kinase in mammalian cells
    • Chong, L.D., Traynor, K.A., Bokoch, G.M. & Schwartz, M.A. The small GTP-binding protein Rho regulates a phosphatidylinositol-4-phosphate 5-kinase in mammalian cells. Cell 79, 507-513 (1994).
    • (1994) Cell , vol.79 , pp. 507-513
    • Chong, L.D.1    Traynor, K.A.2    Bokoch, G.M.3    Schwartz, M.A.4
  • 17
    • 0020373763 scopus 로고
    • Studies of cellular hypersensitivity to ionising radiation in Friedreich's ataxia
    • Chamberlain, S. & Lewis, P.D. Studies of cellular hypersensitivity to ionising radiation in Friedreich's ataxia. J. Neurol. Neurosurg. Psych. 45, 1136-1138 (1982).
    • (1982) J. Neurol. Neurosurg. Psych. , vol.45 , pp. 1136-1138
    • Chamberlain, S.1    Lewis, P.D.2
  • 18
    • 0019886868 scopus 로고
    • Defects in newly synthesised DNA in skin fibroblasts from patients with Friedreich's ataxia
    • Chamberlain, S., Cramp, W.A. & Lewis, P.D. Defects in newly synthesised DNA in skin fibroblasts from patients with Friedreich's ataxia. Lancet i, 1165 (1981).
    • (1981) Lancet , vol.1 , pp. 1165
    • Chamberlain, S.1    Cramp, W.A.2    Lewis, P.D.3
  • 19
    • 0025105970 scopus 로고
    • Purification and characterisation of bovine brain type I phosphatidylinositol kinase
    • Morgan, S., Smith, A.D. & Parker, P.J. Purification and characterisation of bovine brain type I phosphatidylinositol kinase. Eur. J. Biochem. 191, 761-767 (1990).
    • (1990) Eur. J. Biochem. , vol.191 , pp. 761-767
    • Morgan, S.1    Smith, A.D.2    Parker, P.J.3
  • 20
    • 0025988995 scopus 로고
    • Identification and quantification of polyphosphoinositides produced in response to platlet-derived growth factor
    • Serunian, L.A., Auger, K.R. & Cantley, L.C. Identification and quantification of polyphosphoinositides produced in response to platlet-derived growth factor. Methods Enzymol. 198, 78-87 (1991).
    • (1991) Methods Enzymol. , vol.198 , pp. 78-87
    • Serunian, L.A.1    Auger, K.R.2    Cantley, L.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.