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Volumn 121, Issue 3, 2013, Pages 546-555

Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; HEMOGLOBIN; IMMUNOGLOBULIN; LAMININ; LAMININ RECEPTOR;

EID: 84872576853     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-07-442467     Document Type: Article
Times cited : (37)

References (45)
  • 1
    • 0031436478 scopus 로고    scopus 로고
    • Gaucher's disease: Clinical features and natural history
    • DOI 10.1016/S0950-3536(97)80033-9
    • Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Baillieres Clin Haematol. 1997;10(4):657-689. (Pubitemid 28022202)
    • (1997) Bailliere's Clinical Haematology , vol.10 , Issue.4 , pp. 657-689
    • Cox, T.M.1    Schofield, J.P.2
  • 2
    • 53049096591 scopus 로고    scopus 로고
    • Phenotype, diagnosis, and treatment of Gaucher's disease
    • Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008;372(9645): 1263-1271.
    • (2008) Lancet , vol.372 , Issue.9645 , pp. 1263-1271
    • Grabowski, G.A.1
  • 3
  • 5
    • 78651236390 scopus 로고    scopus 로고
    • Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy
    • Deegan PB, Pavlova E, Tindall J, et al. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore). 2011;90(1):52-60.
    • (2011) Medicine (Baltimore) , vol.90 , Issue.1 , pp. 52-60
    • Deegan, P.B.1    Pavlova, E.2    Tindall, J.3
  • 8
    • 82955235006 scopus 로고    scopus 로고
    • Miscellaneous noninflammatory musculoskeletal conditions. Gaucher disease and bone
    • Mikosch P. Miscellaneous noninflammatory musculoskeletal conditions. Gaucher disease and bone. Best Pract Res Clin Rheumatol. 2011; 25(5):665-681.
    • (2011) Best Pract Res Clin Rheumatol , vol.25 , Issue.5 , pp. 665-681
    • Mikosch, P.1
  • 10
    • 84855857674 scopus 로고    scopus 로고
    • Bone marrow microenvironment in an in vitro model of Gaucher disease: Consequences of glucocerebrosidase deficiency
    • Lecourt S, Vanneaux V, Cras A, et al. Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiency. Stem Cells Dev. 2012; 21(2):239-248.
    • (2012) Stem Cells Dev. , vol.21 , Issue.2 , pp. 239-248
    • Lecourt, S.1    Vanneaux, V.2    Cras, A.3
  • 11
    • 78650614891 scopus 로고    scopus 로고
    • Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
    • Mistry PK, Liu J, Yang M, et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010;107(45):19473-19478.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.45 , pp. 19473-19478
    • Mistry, P.K.1    Liu, J.2    Yang, M.3
  • 12
    • 77953530686 scopus 로고    scopus 로고
    • Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease
    • Berger J, Lecourt S, Vanneaux V, et al. Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease. Br J Haematol. 2010; 150(1):93-101.
    • (2010) Br J Haematol , vol.150 , Issue.1 , pp. 93-101
    • Berger, J.1    Lecourt, S.2    Vanneaux, V.3
  • 13
    • 33644592963 scopus 로고    scopus 로고
    • Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease
    • Erikson A, Forsberg H, Nilsson M, Astrom M, Mansson JE. Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr. 2006;95(3):312-317.
    • (2006) Acta Paediatr , vol.95 , Issue.3 , pp. 312-317
    • Erikson, A.1    Forsberg, H.2    Nilsson, M.3    Astrom, M.4    Mansson, J.E.5
  • 14
    • 0020353159 scopus 로고
    • Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between type I and type III
    • Nilsson O, Hakansson G, Dreborg S, Groth CG, Svennerholm L. Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III. Clin Genet. 1982;22(5):274-279. (Pubitemid 13209531)
    • (1982) Clinical Genetics , vol.22 , Issue.5 , pp. 274-279
    • Nilsson, O.1    Hakansson, G.2    Dreborg, S.3
  • 17
    • 78650830555 scopus 로고    scopus 로고
    • A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis
    • Bratosin D, Tissier JP, Lapillonne H, et al. A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis. Cytometry B Clin Cytom. 2011;80(1):28-37.
    • (2011) Cytometry B Clin Cytom , vol.80 , Issue.1 , pp. 28-37
    • Bratosin, D.1    Tissier, J.P.2    Lapillonne, H.3
  • 19
    • 77956055361 scopus 로고    scopus 로고
    • The majority of the in vitro erythroid expansion potential resides in CD34(-) cells, outweighing the contribution of CD34(+) cells and significantly increasing the erythroblast yield from peripheral blood samples
    • van den Akker E, Satchwell TJ, Pellegrin S, Daniels G, Toye AM. The majority of the in vitro erythroid expansion potential resides in CD34(-) cells, outweighing the contribution of CD34(+) cells and significantly increasing the erythroblast yield from peripheral blood samples. Haematologica. 2010;95(9):1594-1598.
    • (2010) Haematologica , vol.95 , Issue.9 , pp. 1594-1598
    • Van Den Akker, E.1    Satchwell, T.J.2    Pellegrin, S.3    Daniels, G.4    Toye, A.M.5
  • 20
    • 0030954288 scopus 로고    scopus 로고
    • Detection and isolation of gene-corrected cells in Gaucher disease via a fluorescence-activated cell sorter assay for lysosomal glucocerebrosidase activity
    • Lorincz M, Herzenberg LA, Diwu Z, Barranger JA, Kerr WG. Detection and isolation of gene-corrected cells in Gaucher disease via a fluorescenceactivated cell sorter assay for lysosomal glucocerebrosidase activity. Blood. 1997;89(9):3412-3420. (Pubitemid 27229829)
    • (1997) Blood , vol.89 , Issue.9 , pp. 3412-3420
    • Lorincz, M.1    Herzenberg, L.A.2    Diwu, Z.3    Barranger, J.A.4    Kerr, W.G.5
  • 23
    • 77957204379 scopus 로고    scopus 로고
    • Decreased sickle red blood cell adhesion to laminin by hydroxyurea is associated with inhibition of Lu/ BCAM protein phosphorylation
    • Bartolucci P, Chaar V, Picot J, et al. Decreased sickle red blood cell adhesion to laminin by hydroxyurea is associated with inhibition of Lu/ BCAM protein phosphorylation. Blood. 2010; 116(12):2152-2159.
    • (2010) Blood , vol.116 , Issue.12 , pp. 2152-2159
    • Bartolucci, P.1    Chaar, V.2    Picot, J.3
  • 24
    • 67649803358 scopus 로고    scopus 로고
    • New guidelines for hemorheological laboratory techniques
    • Baskurt OK, Boynard M, Cokelet GC, et al. New guidelines for hemorheological laboratory techniques. Clin Hemorheol Microcirc. 2009;42(2):75-97.
    • (2009) Clin Hemorheol Microcirc , vol.42 , Issue.2 , pp. 75-97
    • Baskurt, O.K.1    Boynard, M.2    Cokelet, G.C.3
  • 25
    • 65549137580 scopus 로고    scopus 로고
    • Effects of storage duration and temperature of human blood on red cell deformability and aggregation
    • Uyuklu M, Cengiz M, Ulker P, et al. Effects of storage duration and temperature of human blood on red cell deformability and aggregation. Clin Hemorheol Microcirc. 2009;41(4):269-278.
    • (2009) Clin Hemorheol Microcirc , vol.41 , Issue.4 , pp. 269-278
    • Uyuklu, M.1    Cengiz, M.2    Ulker, P.3
  • 26
    • 0035663596 scopus 로고    scopus 로고
    • The Laser-assisted Optical Rotational Cell Analyzer (LORCA) as red blood cell aggregometer
    • Hardeman MR, Dobbe JG, Ince C. The laserassisted optical rotational cell analyzer (LORCA) as red blood cell aggregometer. Clin Hemorheol Microcirc. 2001;25(1):1-11. (Pubitemid 34014671)
    • (2001) Clinical Hemorheology and Microcirculation , vol.25 , Issue.1 , pp. 1-11
    • Hardeman, M.R.1    Dobbe, J.G.G.2    Ince, C.3
  • 27
    • 49949152147 scopus 로고    scopus 로고
    • Erythroid adhesion molecules in sickle cell disease: Effect of hydroxyurea
    • Cartron JP, Elion J. Erythroid adhesion molecules in sickle cell disease: effect of hydroxyurea. Transfus Clin Biol. 2008;15(1-2):39-50.
    • (2008) Transfus Clin Biol , vol.15 , Issue.1-2 , pp. 39-50
    • Cartron, J.P.1    Elion, J.2
  • 29
    • 0026558199 scopus 로고
    • Lateral mobility of integral proteins in red blood cell tethers
    • Berk DA, Hochmuth RM. Lateral mobility of integral proteins in red blood cell tethers. Biophys J. 1992;61(1):9-18.
    • (1992) Biophys J , vol.61 , Issue.1 , pp. 9-18
    • Berk, D.A.1    Hochmuth, R.M.2
  • 30
    • 0023974608 scopus 로고
    • Gaucher disease
    • Beutler E. Gaucher disease. Blood Rev. 1988; 2(1):59-70.
    • (1988) Blood Rev , vol.2 , Issue.1 , pp. 59-70
    • Beutler, E.1
  • 31
    • 0019861804 scopus 로고
    • Viscoelasticity and thixotropy of human blood
    • Stoltz JF, Lucius M. Viscoelasticity and thixotropy of human blood. Biorheology. 1981;18(3-6):453-473. (Pubitemid 11015408)
    • (1981) Biorheology , vol.18 , Issue.3-6 , pp. 453-473
    • Stoltz, J.F.1    Lucius, M.2
  • 32
    • 57149090298 scopus 로고    scopus 로고
    • RBCs aggregation: More important than RBCs adhesion to endothelial cells as a determinant of in vivo blood flow in health and disease
    • Baskurt OK, Meiselman HJ. RBCs aggregation: more important than RBCs adhesion to endothelial cells as a determinant of in vivo blood flow in health and disease. Microcirculation. 2008;15(7): 585-590.
    • (2008) Microcirculation , vol.15 , Issue.7 , pp. 585-590
    • Baskurt, O.K.1    Meiselman, H.J.2
  • 33
    • 10244278094 scopus 로고    scopus 로고
    • Sickle cell vasoocclusion: Heterotypic, multicellular aggregations driven by leukocyte adhesion
    • DOI 10.1080/10739680490278556
    • Frenette PS. Sickle cell vasoocclusion: heterotypic, multicellular aggregations driven by leukocyte adhesion. Microcirculation. 2004;11(2):167-177. (Pubitemid 39619077)
    • (2004) Microcirculation , vol.11 , Issue.2 , pp. 167-177
    • Frenette, P.S.1
  • 34
    • 69549107429 scopus 로고    scopus 로고
    • Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine, and new research directions
    • Kato GJ, Hebbel RP, Steinberg MH, Gladwin MT. Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine, and new research directions. Am J Hematol. 2009;84(9):618-625.
    • (2009) Am J Hematol , vol.84 , Issue.9 , pp. 618-625
    • Kato, G.J.1    Hebbel, R.P.2    Steinberg, M.H.3    Gladwin, M.T.4
  • 35
    • 0023677603 scopus 로고
    • Rheologic impairment of sickle RBCs induced by repetitive cycles of deoxygenation-reoxygenation
    • Nash GB, Johnson CS, Meiselman HJ. Rheologic impairment of sickle RBCs induced by repetitive cycles of deoxygenation-reoxygenation. Blood. 1988;72(2):539-545.
    • (1988) Blood , vol.72 , Issue.2 , pp. 539-545
    • Nash, G.B.1    Johnson, C.S.2    Meiselman, H.J.3
  • 37
    • 10244279286 scopus 로고    scopus 로고
    • In vivo studies of sickle red blood cells
    • DOI 10.1080/10739680490278457
    • Kaul DK, Fabry ME. In vivo studies of sickle red blood cells. Microcirculation. 2004;11(2):153-165. (Pubitemid 39619076)
    • (2004) Microcirculation , vol.11 , Issue.2 , pp. 153-165
    • Kaul, D.K.1    Fabry, M.E.2
  • 38
    • 20044374216 scopus 로고    scopus 로고
    • Bone involvement in sickle cell disease
    • DOI 10.1111/j.1365-2141.2005.05476.x
    • Almeida A, Roberts I. Bone involvement in sickle cell disease. Br J Haematol. 2005;129(4):482-490. (Pubitemid 40769897)
    • (2005) British Journal of Haematology , vol.129 , Issue.4 , pp. 482-490
    • Almeida, A.1    Roberts, I.2
  • 41
    • 0024796873 scopus 로고
    • Effects of D-threo-PDMP, an inhibitor of glucosylceramide synthetase, on expression of cell surface glycolipid antigen and binding to adhesive proteins by B16 melanoma cells
    • DOI 10.1002/jcp.1041410316
    • Inokuchi J, Momosaki K, Shimeno H, Nagamatsu A, Radin NS. Effects of D-threo-PDMP, an inhibitor of glucosylceramide synthetase, on expression of cell surface glycolipid antigen and binding to adhesive proteins by B16 melanoma cells. J Cell Physiol. 1989;141(3):573-583. (Pubitemid 20014305)
    • (1989) Journal of Cellular Physiology , vol.141 , Issue.3 , pp. 573-583
    • Inokuchi, J.-I.1    Momosaki, K.2    Shimeno, H.3    Nagamatsu, A.4    Radin, N.S.5
  • 42
    • 39049171422 scopus 로고    scopus 로고
    • Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention
    • Groener JE, Poorthuis BJ, Kuiper S, Hollak CE, Aerts JM. Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention. Biochim Biophys Acta. 2008;1781(1-2):72-78.
    • (2008) Biochim Biophys Acta , vol.1781 , Issue.1-2 , pp. 72-78
    • Groener, J.E.1    Poorthuis, B.J.2    Kuiper, S.3    Hollak, C.E.4    Aerts, J.M.5
  • 45
    • 0034284271 scopus 로고    scopus 로고
    • Pathologic gene expression in Gaucher disease: Up-regulation of cysteine proteinases including osteoclastic cathepsin K
    • Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood. 2000;96(5):1969-1978. (Pubitemid 30662113)
    • (2000) Blood , vol.96 , Issue.5 , pp. 1969-1978
    • Moran, M.T.1    Schofield, J.P.2    Hayman, A.R.3    Shi, G.-P.4    Young, E.5    Cox, T.M.6


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