메뉴 건너뛰기




Volumn 32, Issue SUPPL. 1, 2009, Pages

Leukocyte perturbation associated with Fabry disease

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GALACTOSIDASE A, HUMAN; ALPHA-GALACTOSIDASE A, HUMAN; CERAMIDE TRIHEXOSIDE; GLOBOTRIAOSYLCERAMIDE;

EID: 84880992758     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1060-9     Document Type: Article
Times cited : (40)

References (36)
  • 1
    • 0037287614 scopus 로고    scopus 로고
    • Fabry's disease associated with rheumatoid arthritis. Multisystemic crossroads
    • Arias Martinez N, Barbado Hernandez FJ, Perez Martin G, et al (2003) Fabry's disease associated with rheumatoid arthritis. Multisystemic crossroads. An Med Interna 20: 28-30.
    • (2003) An Med Interna , vol.20 , pp. 28-30
    • Arias Martinez, N.1    Barbado Hernandez, F.J.2    Perez Martin, G.3
  • 3
    • 20444441569 scopus 로고    scopus 로고
    • Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: Monocytes from Gaucher disease patients as a model
    • DOI 10.1111/j.1365-2141.2005.05503.x
    • Balreira A, Lacerda L, Miranda CS, et al (2005) Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model. Br J Haematol 129: 667-676. doi:10.1111/j.1365-2141.2005.05503.x. (Pubitemid 40825829)
    • (2005) British Journal of Haematology , vol.129 , Issue.5 , pp. 667-676
    • Balreira, A.1    Lacerda, L.2    Sa, M.C.3    Arosa, F.A.4
  • 4
    • 33646715361 scopus 로고    scopus 로고
    • The Mainz Severity Score Index (MSSI): Development and validation of a system for scoring the signs and symptoms of Fabry disease
    • doi:10.1080/08035320600618825
    • Beck M (2006) The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease. Acta Paediatr Suppl 95: 43-46. doi:10.1080/08035320600618825.
    • (2006) Acta Paediatr Suppl , vol.95 , pp. 43-46
    • Beck, M.1
  • 5
    • 0014216741 scopus 로고
    • Enzymatic defect in Fabry disease
    • Brady RO, Gal AE, Bradley RM, et al (1967) Enzymatic defect in Fabry disease. N Engl J Med 276: 1163-1167.
    • (1967) N Engl J Med , vol.276 , pp. 1163-1167
    • Brady, R.O.1    Gal, A.E.2    Bradley, R.M.3
  • 6
    • 0025906661 scopus 로고
    • B and T lymphocytes are affected in lysosomal disorders - An immunoelectron microscopic study
    • doi:10.1111/j.1365-2990.1991.tb00717.x
    • Bruck W, Goebel HH, Dienes P (1991) B and T lymphocytes are affected in lysosomal disorders - an immunoelectron microscopic study. Neuropathol Appl Neurobiol 17: 219-222. doi:10.1111/j.1365-2990.1991.tb00717.x.
    • (1991) Neuropathol Appl Neurobiol , vol.17 , pp. 219-222
    • Bruck, W.1    Goebel, H.H.2    Dienes, P.3
  • 7
    • 0023371670 scopus 로고
    • Abnormalities of cellular immunity and natural killer cells in Gaucher's disease
    • Burstein Y, Zakuth V, Rechavi G, et al (1987) Abnormalities of cellular immunity and natural killer cells in Gaucher's disease. J Clin Lab Immunol 23: 149-151.
    • (1987) J Clin Lab Immunol , vol.23 , pp. 149-151
    • Burstein, Y.1    Zakuth, V.2    Rechavi, G.3
  • 8
    • 11444259751 scopus 로고    scopus 로고
    • Altered expression of CD1d molecules and lipid accumulation in the human hepatoma cell line HepG2 after iron loading
    • DOI 10.1111/j.1432-1033.2004.04387.x
    • Cabrita M, Pereira C, Rodrigues P, et al (2005) Altered expresión of CD1d molecules and lipid accumulation in the human hematoma cell line HepG2 after iron loading. FEBS J 272: 152-165. doi:10.1111/j.1432-1033.2004.04387.x. (Pubitemid 40083075)
    • (2005) FEBS Journal , vol.272 , Issue.1 , pp. 152-165
    • Cabrita, M.1    Pereira, C.F.2    Rodrigues, P.3    Cardoso, E.M.4    Arosa, F.A.5
  • 9
    • 33747694327 scopus 로고    scopus 로고
    • Gaucher disease and multiple myeloma
    • DOI 10.1080/10428190600565453, PII H20163274423371X
    • Costello R, O'Callaghan T, Sebahoun G (2006) Gaucher disease and multiple myeloma. Leuk Lymphoma 47: 1365-1368. doi:10.1080/10428190600565453. (Pubitemid 44269647)
    • (2006) Leukemia and Lymphoma , vol.47 , Issue.7 , pp. 1365-1368
    • Costello, R.1    O'Callaghan, T.2    Sebahoun, G.3
  • 10
    • 33645781485 scopus 로고    scopus 로고
    • Natural history of Fabry disease in females in the Fabry Outcome Survey
    • doi:10.1136/jmg.2005.036327
    • Deegan PB, Baehner AF, Barba Romero MA, et al (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43: 347-352. doi:10.1136/jmg.2005.036327.
    • (2006) J Med Genet , vol.43 , pp. 347-352
    • Deegan, P.B.1    Baehner, A.F.2    Barba Romero, M.A.3
  • 12
    • 0028169443 scopus 로고
    • An invariant a24-JaQ/Vb11 T cell receptor is expressed in all individualls by clonally expanded CD4-CD8- T cells
    • doi:10.1084/jem.180.3.1171
    • Dellabona P, Padovan E, Casorati G, et al (1994). An invariant a24-JaQ/Vb11 T cell receptor is expressed in all individualls by clonally expanded CD4-CD8- T cells. J Exp Med 180: 1171-1176. doi:10.1084/jem.180.3.1171.
    • (1994) J Exp Med , vol.180 , pp. 1171-1176
    • Dellabona, P.1    Padovan, E.2    Casorati, G.3
  • 14
    • 0021238405 scopus 로고
    • Gaucher's disease and chronic lymphocytic leukemia. Possible pathogenetic link between Gaucher's disease and B-cell proliferations?
    • Fox H, McCarthy P, André-Schwartz J (1984) Gaucher's disease and chronic lymphocytic leukemia. Possible pathogenetic link between Gaucher's disease and B-cell proliferations? Cancer 54: 312-314. doi: 10.1002/1097- 0142(19840715)54:2〈312::AID-CNCR2820540222〉3.0.CO;2-I. (Pubitemid 14076615)
    • (1984) Cancer , vol.54 , Issue.2 , pp. 312-314
    • Fox, H.1    McCarthy, P.2    Andre-Schwartz, J.3
  • 16
    • 0018221387 scopus 로고
    • Characterization of antibodies and globoside
    • doi:10.1016/0161-5890(78)90130-X
    • Hamers MN, Donker-Koopman WE, Coulon-Morelec MJ, et al (1978) Characterization of antibodies and globoside. Immunochemistry 15: 353-358. doi:10.1016/0161-5890(78)90130-X.
    • (1978) Immunochemistry , vol.15 , pp. 353-358
    • Hamers, M.N.1    Donker-Koopman, W.E.2    Coulon-Morelec, M.J.3
  • 17
    • 0028585868 scopus 로고
    • Characterization of T-cell subpopulations and NK-cells in lysosomal disorders by immuno-electron microscopy
    • doi:10.1111/j.1365-2990.1994.tb01015.x
    • Kieseier BC, Goebel HH (1994) Characterization of T-cell subpopulations and NK-cells in lysosomal disorders by immuno-electron microscopy. Neuropathol App Neurobiol 20: 604-608. doi:10.1111/j.1365-2990.1994.tb01015.x.
    • (1994) Neuropathol App Neurobiol , vol.20 , pp. 604-608
    • Kieseier, B.C.1    Goebel, H.H.2
  • 18
    • 0030875430 scopus 로고    scopus 로고
    • The monocyte-macrophage system is affected in lysosomal storage diseases: An immunoelectron microscopic study
    • DOI 10.1007/s004010050719
    • Kieseier BC, Wisniewiski KE, Goebel HH (1997) The monocyte-machrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study. Acta Neuropathol 94: 359-362. doi:10.1007/s004010050719. (Pubitemid 27450116)
    • (1997) Acta Neuropathologica , vol.94 , Issue.4 , pp. 359-362
    • Kieseier, B.C.1    Wisniewski, K.E.2    Goebel, H.H.3
  • 19
    • 0014964372 scopus 로고
    • Fabry disease. Alpha galactosidase deficiency
    • doi:10.1126/science.167.3922.1268
    • Kint JA (1970) Fabry disease. Alpha galactosidase deficiency. Science 167: 1268-1269. doi:10.1126/science.167.3922.1268.
    • (1970) Science , vol.167 , pp. 1268-1269
    • Kint, J.A.1
  • 20
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 38: 750-760. doi:10.1136/jmg.38.11.750. (Pubitemid 33032930)
    • (2001) Journal of Medical Genetics , vol.38 , Issue.11 , pp. 750-760
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 21
    • 0020086226 scopus 로고
    • Gaucher's disease with monoclonal gammopathy. Significance of splenic plasmacytosis
    • Marie JP, Tulliez M, Tricottet-Paczinski V, et al (1982) Gaucher's disease with monoclonal gammopathy. Significance of splenic plasmacytosis. Scand J Haematol 28: 54-58. (Pubitemid 12180442)
    • (1982) Scandinavian Journal of Haematology , vol.28 , Issue.1 , pp. 54-58
    • Marie, J.P.1    Tulliez, M.2    Tricottet-Paczinski, V.3
  • 23
    • 34249977819 scopus 로고    scopus 로고
    • High incidence of autoantibodies in Fabry disease patients
    • DOI 10.1007/s10545-007-0513-2
    • Martinez P, Aggio M, Rozenfeld P (2007) High incidence of autoantibodies in Fabry disease patients. J Inherit Metab Dis 30: 365-369. doi:10.1007/s10545- 007-0513-2. (Pubitemid 46881683)
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , Issue.3 , pp. 365-369
    • Martinez, P.1    Aggio, M.2    Rozenfeld, P.3
  • 24
    • 33645293202 scopus 로고    scopus 로고
    • Dendritic cells in patients with type I Gaucher disease are decreased in number but functionally normal
    • doi:10.1016/j.bcmd.2005.12.029
    • Micheva I, Marinakis T, Repa C (2006) Dendritic cells in patients with type I Gaucher disease are decreased in number but functionally normal. Blood Cells Mol Dis 36: 298-307. doi:10.1016/j.bcmd.2005.12.029.
    • (2006) Blood Cells Mol Dis , vol.36 , pp. 298-307
    • Micheva, I.1    Marinakis, T.2    Repa, C.3
  • 27
    • 0020582130 scopus 로고
    • Kidney involvement in systemic lupus erythematosus and Fabry's disease
    • Rosenmann E, Kobrin I, Cohen T (1983) Kidney involvement in systemic lupus erythematosus and Fabry's disease. Nephron 34: 180-184. doi:10.1159/000183006. (Pubitemid 13096580)
    • (1983) Nephron , vol.34 , Issue.3 , pp. 180-184
    • Rosenmann, E.1    Kobrin, I.2    Cohen, T.3
  • 28
    • 33748530605 scopus 로고    scopus 로고
    • Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of fabry disease patients
    • DOI 10.1111/j.1442-9071.2006.01318.x
    • Rozenfeld PA, Croxatto O, Ebner R, et al (2006) Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients. Clin Exp Ophthalmol 34: 689-694. doi:10.1111/j.1442-9071.2006. 01318.x. (Pubitemid 44363621)
    • (2006) Clinical and Experimental Ophthalmology , vol.34 , Issue.7 , pp. 689-694
    • Rozenfeld, P.A.1    Croxatto, O.2    Ebner, R.3    Fossati, C.A.4
  • 30
    • 53749095321 scopus 로고    scopus 로고
    • Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
    • doi:10.1016/j.ymgme.2008.06.016
    • Shen JS, Meng XL, Moore DF, et al (2008) Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95: 163-168. doi:10.1016/j.ymgme. 2008.06.016.
    • (2008) Mol Genet Metab , vol.95 , pp. 163-168
    • Shen, J.S.1    Meng, X.L.2    Moore, D.F.3
  • 31
    • 0034814719 scopus 로고    scopus 로고
    • Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: A possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses
    • Simonaro CM, Haskins ME, Schuchman EH (2001) Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the muchpolysaccharidoses. Lab Invest 81: 1319-1328. doi:10.1038/labinvest.3780345. (Pubitemid 32911980)
    • (2001) Laboratory Investigation , vol.81 , Issue.9 , pp. 1319-1328
    • Simonaro, C.M.1    Haskins, M.E.2    Schuchman, E.H.3
  • 32
    • 0032547823 scopus 로고    scopus 로고
    • CD1d-restricted recognition of synthetic glycolipid antigens by human natural killer T cells
    • DOI 10.1084/jem.188.8.1529
    • Spada FM, Koezuka Y, Porcelli SA (1998) CD1d-restricted recognition of synthetic glycolipid antigens by human natural killer T cells. J Exp Med 188: 1529-1534. doi:10.1084/jem.188.8.1529. (Pubitemid 28489590)
    • (1998) Journal of Experimental Medicine , vol.188 , Issue.8 , pp. 1529-1534
    • Spada, F.M.1    Koezuka, Y.2    Porcelli, S.A.3
  • 33
    • 1042278901 scopus 로고    scopus 로고
    • New insights into pathways for CD1-mediated antigen presentation
    • DOI 10.1016/j.coi.2003.11.014
    • Sugita M, Cernadas M, Brenner MB (2004) New insights into pathways for CD1-mediated antigen presentation. Curr Opin Immunol 16: 90-95. doi:10.1016/j.coi.2003.11.014. (Pubitemid 38198122)
    • (2004) Current Opinion in Immunology , vol.16 , Issue.1 , pp. 90-95
    • Sugita, M.1    Cernadas, M.2    Brenner, M.B.3
  • 35
    • 11444254013 scopus 로고    scopus 로고
    • Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease
    • DOI 10.1016/j.ymgme.2004.08.017, PII S1096719204002185
    • Wu YP, Mizukami H, Matsuda J, et al (2005) Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease. Mol Genet Metab 84: 9-17. doi:10.1016/j.ymgme.2004.08.017. (Pubitemid 40082600)
    • (2005) Molecular Genetics and Metabolism , vol.84 , Issue.1 , pp. 9-17
    • Wu, Y.-P.1    Mizukami, H.2    Matsuda, J.3    Saito, Y.4    Proia, R.L.5    Suzuki, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.