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Volumn 62, Issue 9, 2004, Pages 1509-1517

The effect of genotype on the natural history of eIF2B-related leukodystrophies

(15)  Fogli, A a   Schiffmann, R b   Bertini, E c   Ughetto, S d   Combes, P a   Eymard Pierre, E a   Kaneski, C R b   Pineda, M e   Troncoso, M f   Uziel, G g   Surtees, R h   Pugin, D i   Chaunu, M P j   Rodriguez, D k   Boespflug Tanguy, Odile a,l  

a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANINE NUCLEOTIDE EXCHANGE FACTOR BETA; GUANINE NUCLEOTIDE EXCHANGE FACTOR DELTA; GUANINE NUCLEOTIDE EXCHANGE FACTOR EPSILON; GUANINE NUCLEOTIDE EXCHANGE FACTOR GAMMA; UNCLASSIFIED DRUG;

EID: 2342657880     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000123259.67815.DB     Document Type: Article
Times cited : (146)

References (24)
  • 1
    • 0028351908 scopus 로고
    • Childhood ataxia with diffuse central nervous system hypomyelination
    • Schiffmann R, Moller JR, Trapp BD, et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994;35:331-340.
    • (1994) Ann Neurol , vol.35 , pp. 331-340
    • Schiffmann, R.1    Moller, J.R.2    Trapp, B.D.3
  • 2
    • 0027519635 scopus 로고
    • Diffuse white matter disease in three children: An encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy
    • Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993;24:244-248.
    • (1993) Neuropediatrics , vol.24 , pp. 244-248
    • Hanefeld, F.1    Holzbach, U.2    Kruse, B.3    Wilichowski, E.4    Christen, H.J.5    Frahm, J.6
  • 3
    • 0030975392 scopus 로고    scopus 로고
    • A new leukoencephalopathy with vanishing white matter
    • van der Knaap MS, Barth PG, Gabreels FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-855.
    • (1997) Neurology , vol.48 , pp. 845-855
    • Van Der Knaap, M.S.1    Barth, P.G.2    Gabreels, F.J.3
  • 4
    • 0032912163 scopus 로고    scopus 로고
    • Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: Neuropathological and biochemical study of two cases
    • Rodriguez D, Gelot A, della Gaspera B, et al. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. Acta Neuropathol 1999;97:469-480.
    • (1999) Acta Neuropathol , vol.97 , pp. 469-480
    • Rodriguez, D.1    Gelot, A.2    Della Gaspera, B.3
  • 5
    • 0033770347 scopus 로고    scopus 로고
    • Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome
    • Wong K, Armstrong RC, Gyure KA, et al. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol 2000;100:635-646.
    • (2000) Acta Neuropathol , vol.100 , pp. 635-646
    • Wong, K.1    Armstrong, R.C.2    Gyure, K.A.3
  • 6
    • 18344386777 scopus 로고    scopus 로고
    • Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
    • Leegwater PA, Vermeulen G, Konst AA, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001;29:383-388.
    • (2001) Nat Genet , vol.29 , pp. 383-388
    • Leegwater, P.A.1    Vermeulen, G.2    Konst, A.A.3
  • 7
    • 0036156978 scopus 로고    scopus 로고
    • Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
    • van der Knaap MS, Leegwater PA, Konst AA, et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002;51:264-270.
    • (2002) Ann Neurol , vol.51 , pp. 264-270
    • Van Der Knaap, M.S.1    Leegwater, P.A.2    Konst, A.A.3
  • 8
    • 0023801968 scopus 로고    scopus 로고
    • Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba
    • Black DN, Booth F, Watters GV, et al. Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. Ann Neurol 1998;24:490-496.
    • (1998) Ann Neurol , vol.24 , pp. 490-496
    • Black, D.N.1    Booth, F.2    Watters, G.V.3
  • 9
    • 0036791923 scopus 로고    scopus 로고
    • Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus
    • Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002;52:506-510.
    • (2002) Ann Neurol , vol.52 , pp. 506-510
    • Fogli, A.1    Wong, K.2    Eymard-Pierre, E.3
  • 10
    • 0035943073 scopus 로고    scopus 로고
    • Fatal infantile leukodystrophy, a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27
    • Francalanci P, Eymard-Pierre E, Dionisi-Vici C, et al. Fatal infantile leukodystrophy, a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2001;57:265-270.
    • (2001) Neurology , vol.57 , pp. 265-270
    • Francalanci, P.1    Eymard-Pierre, E.2    Dionisi-Vici, C.3
  • 11
    • 0037168792 scopus 로고    scopus 로고
    • A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF2B5 mutation
    • Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E. A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF2B5 mutation. Neurology 2002;12:1966-1968.
    • (2002) Neurology , vol.12 , pp. 1966-1968
    • Fogli, A.1    Dionisi-Vici, C.2    Deodato, F.3    Bartuli, A.4    Boespflug-Tanguy, O.5    Bertini, E.6
  • 12
    • 0030944598 scopus 로고    scopus 로고
    • Leukodystrophy in individuals with ovarian dysgenesis
    • Schiffmann R, Tedeschi G, Kinkel R, et al. Leukodystrophy in individuals with ovarian dysgenesis. Ann Neurol 1997;41:654-661.
    • (1997) Ann Neurol , vol.41 , pp. 654-661
    • Schiffmann, R.1    Tedeschi, G.2    Kinkel, R.3
  • 13
    • 0038015577 scopus 로고    scopus 로고
    • Ovarian failure related to eukaryotic initiation factor 2B mutations
    • Fogli A, Rodriguez D, Eymard-Pierre E, et al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003;72:1544-1550.
    • (2003) Am J Hum Genet , vol.72 , pp. 1544-1550
    • Fogli, A.1    Rodriguez, D.2    Eymard-Pierre, E.3
  • 15
    • 0037295890 scopus 로고    scopus 로고
    • Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines
    • Peters C, Steward CG, National Marrow Donor Program, International Bone Marrow Transplant Registry, Working Party on Inborn Errors, European Bone Marrow Transplant Group. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003;31:229-239.
    • (2003) Bone Marrow Transplant , vol.31 , pp. 229-239
    • Peters, C.1    Steward, C.G.2
  • 16
    • 0034024628 scopus 로고    scopus 로고
    • Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation
    • Gomez E, Pavitt GD. Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation. Mol Cell Biol 2000;20:3965-3976.
    • (2000) Mol Cell Biol , vol.20 , pp. 3965-3976
    • Gomez, E.1    Pavitt, G.D.2
  • 17
    • 0036087070 scopus 로고    scopus 로고
    • "Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculofacio-skeletal phenotype
    • Boltshauser E, Barth PG, Troost D, Martin E, Stallmach T. "Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculofacio-skeletal phenotype. Neuropediatrics 2002;33:57-62.
    • (2002) Neuropediatrics , vol.33 , pp. 57-62
    • Boltshauser, E.1    Barth, P.G.2    Troost, D.3    Martin, E.4    Stallmach, T.5
  • 18
    • 0242522401 scopus 로고    scopus 로고
    • eIF2B-related disorders: Antenatal onset and involvement of multiple organs
    • van der Knaap MS, Van Berkel CG, Herms J, et al. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003;73:1199-2007.
    • (2003) Am J Hum Genet , vol.73 , pp. 1199-2007
    • Van Der Knaap, M.S.1    Van Berkel, C.G.2    Herms, J.3
  • 19
    • 0030730131 scopus 로고    scopus 로고
    • Eukaryotic initiation factor 2B (eIF2B)
    • Webb BL, Proud CG. Eukaryotic initiation factor 2B (eIF2B). Int J Biochem Cell Biol 1997;29:1127-1131.
    • (1997) Int J Biochem Cell Biol , vol.29 , pp. 1127-1131
    • Webb, B.L.1    Proud, C.G.2
  • 20
    • 0001787261 scopus 로고    scopus 로고
    • Origins and principles of translational control
    • Sonenberg N, Hershey JW, Mathews MB, eds. New York: Cold Spring Harbor Laboratory Press
    • Mathews MB, Sonenberg N, Hershey JW. Origins and principles of translational control. In: Sonenberg N, Hershey JW, Mathews MB, eds. Translational control of gene expression. New York: Cold Spring Harbor Laboratory Press, 2000;1-31.
    • (2000) Translational Control of Gene Expression , pp. 1-31
    • Mathews, M.B.1    Sonenberg, N.2    Hershey, J.W.3
  • 21
    • 0028582139 scopus 로고
    • The guanine nucleotide-exchange factor, eIF-2B
    • Price N, Proud C. The guanine nucleotide-exchange factor, eIF-2B. Biochimie 1994;76:748-760.
    • (1994) Biochimie , vol.76 , pp. 748-760
    • Price, N.1    Proud, C.2
  • 22
    • 0030348078 scopus 로고    scopus 로고
    • Role of translation initiation factor eIF-2B in the regulation of protein synthesis in mammalian cells
    • Kimball SR, Mellor H, Flowers KM, Jefferson LS. Role of translation initiation factor eIF-2B in the regulation of protein synthesis in mammalian cells. Prog Nucleic Acid Res Mol Biol 1996;54:165-196.
    • (1996) Prog Nucleic Acid Res Mol Biol , vol.54 , pp. 165-196
    • Kimball, S.R.1    Mellor, H.2    Flowers, K.M.3    Jefferson, L.S.4
  • 23
    • 0035231288 scopus 로고    scopus 로고
    • Initiation factor eIF2 alpha phosphorylation in stress responses and apoptosis
    • Clemens MJ. Initiation factor eIF2 alpha phosphorylation in stress responses and apoptosis. Prog Mol Subcell Biol 2001;27:57-89.
    • (2001) Prog Mol Subcell Biol , vol.27 , pp. 57-89
    • Clemens, M.J.1
  • 24
    • 0033057848 scopus 로고    scopus 로고
    • Heat-shock proteins, molecular chaperones, and the stress response: Evolutionary and ecological physiology
    • Feder ME, Hofmann GE. Heat-shock proteins, molecular chaperones, and the stress response: evolutionary and ecological physiology. Annu Rev Physiol 1999;61:243-282.
    • (1999) Annu Rev Physiol , vol.61 , pp. 243-282
    • Feder, M.E.1    Hofmann, G.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.