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Volumn 4, Issue 8, 2015, Pages 878-886

Gaucher disease-induced pluripotent stem cells display decreased erythroid potential and aberrant myelopoiesis

Author keywords

Erythropoiesis; Hematopoiesis; Hematopoietic stem cells; Induced pluripotent stem cells; Monocyte; Myeloid cells; Stem progenitor cell

Indexed keywords

CD34 ANTIGEN; CD45 ANTIGEN; GLUCOSYLCERAMIDASE; LEUKOSIALIN;

EID: 84937888128     PISSN: 21576564     EISSN: 21576580     Source Type: Journal    
DOI: 10.5966/sctm.2014-0213     Document Type: Article
Times cited : (23)

References (49)
  • 1
    • 77954225471 scopus 로고    scopus 로고
    • Common and uncommon pathogenic cascades in lysosomal storage diseases
    • 1 Vitner EB, Platt FM, Futerman AH. Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem 2010; 285:20423–20427.
    • (2010) J Biol Chem , vol.285 , pp. 20423-20427
    • Vitner, E.B.1    Platt, F.M.2    Futerman, A.H.3
  • 2
    • 84875312816 scopus 로고    scopus 로고
    • Gaucher disease: A comprehensive review
    • 2 Rosenbloom BE, Weinreb NJ. Gaucher disease: A comprehensive review. Crit Rev Oncog 2013;18:163–175.
    • (2013) Crit Rev Oncog , vol.18 , pp. 163-175
    • Rosenbloom, B.E.1    Weinreb, N.J.2
  • 4
    • 17644422131 scopus 로고    scopus 로고
    • Gaucher disease: Pathological mechanisms and modern management
    • 4 Jmoudiak M, Futerman AH. Gaucher disease: Pathological mechanisms and modern management. Br J Haematol 2005;129:178–188.
    • (2005) Br J Haematol , vol.129 , pp. 178-188
    • Jmoudiak, M.1    Futerman, A.H.2
  • 5
    • 0036242349 scopus 로고    scopus 로고
    • Gaucher disease: Perspectives on a prototype lysosomal disease
    • 5 Zhao H, Grabowski GA. Gaucher disease: Perspectives on a prototype lysosomal disease. Cell Mol Life Sci 2002;59:694–707.
    • (2002) Cell Mol Life Sci , vol.59 , pp. 694-707
    • Zhao, H.1    Grabowski, G.A.2
  • 7
    • 4344593367 scopus 로고    scopus 로고
    • Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activatedmacrophages
    • 7 Boven LA, van Meurs M, Boot RG et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activatedmacrophages. AmJ Clin Pathol 2004;122: 359–369.
    • (2004) Amj Clin Pathol , vol.122 , pp. 359-369
    • Boven, L.A.1    Van Meurs, M.2    Boot, R.G.3
  • 8
    • 79955820033 scopus 로고    scopus 로고
    • Gaucher disease with foamy transformed macrophages and erythrophagocytic activity
    • 8 Machaczka M, Klimkowska M, Regenthal S et al. Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. J Inherit Metab Dis 2011;34:233–235.
    • (2011) J Inherit Metab Dis , vol.34 , pp. 233-235
    • Machaczka, M.1    Klimkowska, M.2    Regenthal, S.3
  • 10
    • 84868089871 scopus 로고    scopus 로고
    • Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
    • 10 Panicker LM, Miller D, Park TS et al. Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease. Proc Natl Acad Sci USA 2012;109:18054–18059.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 18054-18059
    • Panicker, L.M.1    Miller, D.2    Park, T.S.3
  • 11
    • 34548175657 scopus 로고    scopus 로고
    • Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease
    • 11 Hughes D, Cappellini MD, Berger M et al. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol 2007;138: 676–686.
    • (2007) Br J Haematol , vol.138 , pp. 676-686
    • Hughes, D.1    Cappellini, M.D.2    Berger, M.3
  • 12
    • 84899475987 scopus 로고    scopus 로고
    • Gaucher disease: Haematological presentations and complications
    • 12 Thomas AS, Mehta A, Hughes DA. Gaucher disease: Haematological presentations and complications. Br J Haematol 2014;165: 427–440.
    • (2014) Br J Haematol , vol.165 , pp. 427-440
    • Thomas, A.S.1    Mehta, A.2    Hughes, D.A.3
  • 13
    • 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
    • 13 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: 28–37.
    • (2011) Cytometry B Clin Cytom , vol.80 , pp. 28-37
    • Bratosin, D.1    Tissier, J.P.2    Lapillonne, H.3
  • 14
    • 84872576853 scopus 로고    scopus 로고
    • Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease
    • 14 Franco M, Collec E, Connes P et al. Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease. Blood 2013;121:546–555.
    • (2013) Blood , vol.121 , pp. 546-555
    • Franco, M.1    Collec, E.2    Connes, P.3
  • 15
    • 33746095376 scopus 로고    scopus 로고
    • Aggregation of red blood cells in patients with Gaucher disease
    • 15 Adar T, Ben-Ami R, Elstein D et al. Aggregation of red blood cells in patients with Gaucher disease. Br J Haematol 2006;134: 432–437.
    • (2006) Br J Haematol , vol.134 , pp. 432-437
    • Adar, T.1    Ben-Ami, R.2    Elstein, D.3
  • 16
    • 84875303631 scopus 로고    scopus 로고
    • Gaucher disease and myeloma
    • 16 Ayto R, Hughes DA. Gaucher disease and myeloma. Crit Rev Oncog 2013;18:247–268.
    • (2013) Crit Rev Oncog , vol.18 , pp. 247-268
    • Ayto, R.1    Hughes, D.A.2
  • 17
    • 0032805835 scopus 로고    scopus 로고
    • Cytokines in Gaucher’s disease
    • 17 Barak V, Acker M, Nisman B et al. Cytokines in Gaucher’s disease. Eur Cytokine Netw 1999;10:205–210.
    • (1999) Eur Cytokine Netw , vol.10 , pp. 205-210
    • Barak, V.1    Acker, M.2    Nisman, B.3
  • 18
    • 84906248420 scopus 로고    scopus 로고
    • Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development
    • 18 Panicker LM, Miller D, Awad O et al. Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development. STEM CELLS 2014;32:2338–2349.
    • (2014) STEM CELLS , vol.32 , pp. 2338-2349
    • Panicker, L.M.1    Miller, D.2    Awad, O.3
  • 19
    • 36248966518 scopus 로고    scopus 로고
    • OhnukiM et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • 19 Takahashi K, Tanabe K, OhnukiM et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007; 131:861–872.
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2
  • 20
    • 33747195353 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
    • 20 Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 2006;126:663–676.
    • (2006) Cell , vol.126 , pp. 663-676
    • Takahashi, K.1    Yamanaka, S.2
  • 21
    • 84873025749 scopus 로고    scopus 로고
    • Reprogrammed cells for disease modeling and regenerative medicine
    • 21 Cherry AB, Daley GQ. Reprogrammed cells for disease modeling and regenerative medicine. Annu Rev Med 2013;64:277–290.
    • (2013) Annu Rev Med , vol.64 , pp. 277-290
    • Cherry, A.B.1    Daley, G.Q.2
  • 22
    • 84858390754 scopus 로고    scopus 로고
    • Reprogramming cellular identity for regenerative medicine
    • 22 Cherry AB, Daley GQ. Reprogramming cellular identity for regenerative medicine. Cell 2012;148:1110–1122.
    • (2012) Cell , vol.148 , pp. 1110-1122
    • Cherry, A.B.1    Daley, G.Q.2
  • 23
    • 79960072872 scopus 로고    scopus 로고
    • Tinkering with transcription factors uncovers plasticity of somatic cells
    • 23 Azevedo JL, Feldman RA. Tinkering with transcription factors uncovers plasticity of somatic cells. Genes Cancer 2010;1:1089–1099.
    • (2010) Genes Cancer , vol.1 , pp. 1089-1099
    • Azevedo, J.L.1    Feldman, R.A.2
  • 25
    • 0030840571 scopus 로고    scopus 로고
    • A transgenic mouse strain expressing four drugselectable marker genes
    • 25 Tucker KL, Wang Y, Dausman J et al. A transgenic mouse strain expressing four drugselectable marker genes. Nucleic Acids Res 1997;25:3745–3746.
    • (1997) Nucleic Acids Res , vol.25 , pp. 3745-3746
    • Tucker, K.L.1    Wang, Y.2    Dausman, J.3
  • 26
    • 84871659979 scopus 로고    scopus 로고
    • Efficient and simultaneous generation of hematopoietic and vascular progenitors from human induced pluripotent stem cells
    • 26 Park TS, Zimmerlin L, Zambidis ET. Efficient and simultaneous generation of hematopoietic and vascular progenitors from human induced pluripotent stem cells. Cytometry A 2013;83:114–126.
    • (2013) Cytometry A , vol.83 , pp. 114-126
    • Park, T.S.1    Zimmerlin, L.2    Zambidis, E.T.3
  • 27
    • 55749104551 scopus 로고    scopus 로고
    • Expression of angiotensin-converting enzyme (CD143) identifies and regulates primitive hemangioblasts derived from human pluripotent stem cells
    • 27 Zambidis ET, Park TS, Yu W et al. Expression of angiotensin-converting enzyme (CD143) identifies and regulates primitive hemangioblasts derived from human pluripotent stem cells. Blood 2008;112:3601–3614.
    • (2008) Blood , vol.112 , pp. 3601-3614
    • Zambidis, E.T.1    Park, T.S.2    Yu, W.3
  • 28
    • 78649327560 scopus 로고    scopus 로고
    • Characterization of human embryonic stem cell-derived hematopoietic progenitor phenotype
    • 28 Zhou HY, Yang XY, Tao LJ et al. Characterization of human embryonic stem cell-derived hematopoietic progenitor phenotype. In Vitro Cell Dev Biol Anim 2010;46:733–737.
    • (2010) In Vitro Cell Dev Biol Anim , vol.46 , pp. 733-737
    • Zhou, H.Y.1    Yang, X.Y.2    Tao, L.J.3
  • 29
    • 33748699110 scopus 로고    scopus 로고
    • Leukosialin (CD43) defines hematopoietic progenitors inhumanembryonic stem cell differentiation cultures
    • 29 Vodyanik MA, Thomson JA, Slukvin II. Leukosialin (CD43) defines hematopoietic progenitors inhumanembryonic stem cell differentiation cultures. Blood 2006;108:2095–2105.
    • (2006) Blood , vol.108 , pp. 2095-2105
    • Vodyanik, M.A.1    Thomson, J.A.2    Slukvin, I.I.3
  • 31
    • 77956055361 scopus 로고    scopus 로고
    • The majority of the in vitro erythroid expansion potential resides in CD34(2) cellsoutweighing the contribution of CD34(+) cells and significantly increasing the erythroblast yield from peripheral blood samples
    • 31 van den Akker E, Satchwell TJ, Pellegrin S et al. The majority of the in vitro erythroid expansion potential resides in CD34(2) cells, outweighing the contribution of CD34(+) cells and significantly increasing the erythroblast yield from peripheral blood samples. Haematologica 2010;95:1594–1598.
    • (2010) Haematologica , vol.95 , pp. 1594-1598
    • Van Den Akker, E.1    Satchwell, T.J.2    Pellegrin, S.3
  • 32
    • 70350449425 scopus 로고    scopus 로고
    • Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis
    • 32 Chen K, Liu J, Heck S et al. Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis. Proc Natl Acad Sci USA 2009;106:17413–17418.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 17413-17418
    • Chen, K.1    Liu, J.2    Heck, S.3
  • 33
    • 79959945443 scopus 로고    scopus 로고
    • Gaucher disease: Clinical profile and therapeutic developments
    • 33 Cox TM. Gaucher disease: Clinical profile and therapeutic developments. Biologics 2010; 4:299–313.
    • (2010) Biologics , vol.4 , pp. 299-313
    • Cox, T.M.1
  • 34
    • 33846262175 scopus 로고    scopus 로고
    • Therapy for Gaucher disease: Don’t stop thinking about tomorrow
    • 34 Sidransky E, LaMarca ME, Ginns EI. Therapy for Gaucher disease: Don’t stop thinking about tomorrow. Mol Genet Metab 2007;90: 122–125.
    • (2007) Mol Genet Metab , vol.90 , pp. 122-125
    • Sidransky, E.1    Lamarca, M.E.2    Ginns, E.I.3
  • 35
    • 77953530686 scopus 로고    scopus 로고
    • Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease
    • 35 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;150:93–101.
    • (2010) Br J Haematol , vol.150 , pp. 93-101
    • Berger, J.1    Lecourt, S.2    Vanneaux, V.3
  • 36
    • 78751500709 scopus 로고    scopus 로고
    • The pathophysiology of GD—Current understanding and rationale for existing and emerging therapeutic approaches
    • 36 Hughes DA, Pastores GM. The pathophysiology of GD—Current understanding and rationale for existing and emerging therapeutic approaches. Wien Med Wochenschr 2010;160: 594–599.
    • (2010) Wien Med Wochenschr , vol.160 , pp. 594-599
    • Hughes, D.A.1    Pastores, G.M.2
  • 37
    • 33748793666 scopus 로고    scopus 로고
    • Effective cell and gene therapy in a murine model of Gaucher disease
    • 37 Enquist IB, Nilsson E, Ooka A et al. Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci USA 2006; 103:13819–13824.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 13819-13824
    • Enquist, I.B.1    Nilsson, E.2    Ooka, A.3
  • 38
    • 78650614891 scopus 로고    scopus 로고
    • Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
    • 38 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 USA 2010;107:19473–19478.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 19473-19478
    • Mistry, P.K.1    Liu, J.2    Yang, M.3
  • 39
    • 84885139621 scopus 로고    scopus 로고
    • B cell lymphoma and myeloma in murine Gaucher’s disease
    • 39 Pavlova EV, Wang SZ, Archer J et al. B cell lymphoma and myeloma in murine Gaucher’s disease. J Pathol 2013;231:88–97.
    • (2013) J Pathol , vol.231 , pp. 88-97
    • Pavlova, E.V.1    Wang, S.Z.2    Archer, J.3
  • 40
    • 0033916912 scopus 로고    scopus 로고
    • Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation
    • 40 Orvisky E, Sidransky E, McKinney CE et al. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res 2000;48:233–237.
    • (2000) Pediatr Res , vol.48 , pp. 233-237
    • Orvisky, E.1    Sidransky, E.2    McKinney, C.E.3
  • 42
    • 84893487797 scopus 로고    scopus 로고
    • Hematopoietic specification from human pluripotent stem cells: Current advances and challenges toward de novo generation of hematopoietic stem cells
    • 42 Slukvin II. Hematopoietic specification from human pluripotent stem cells: Current advances and challenges toward de novo generation of hematopoietic stem cells. Blood 2013; 122:4035–4046.
    • (2013) Blood , vol.122 , pp. 4035-4046
    • Slukvin, I.I.1
  • 43
    • 68549085529 scopus 로고    scopus 로고
    • Establishment of a normal hematopoietic and leukemia stem cell hierarchy
    • 43 Chao MP, Seita J, Weissman IL. Establishment of a normal hematopoietic and leukemia stem cell hierarchy. Cold Spring Harb Symp Quant Biol 2008;73:439–449.
    • (2008) Cold Spring Harb Symp Quant Biol , vol.73 , pp. 439-449
    • Chao, M.P.1    Seita, J.2    Weissman, I.L.3
  • 44
    • 80051940892 scopus 로고    scopus 로고
    • Role of transcription factors in differentiation and reprogramming of hematopoietic cells
    • 44 Nakajima H. Role of transcription factors in differentiation and reprogramming of hematopoietic cells. Keio J Med 2011;60:47–55.
    • (2011) Keio J Med , vol.60 , pp. 47-55
    • Nakajima, H.1
  • 45
    • 84893089057 scopus 로고    scopus 로고
    • Hematopoietic stem cell developmentnichesand signaling pathways
    • 45 Chotinantakul K, Leeanansaksiri W. Hematopoietic stem cell development, niches, and signaling pathways. Bone Marrow Res 2012;2012:270425.
    • (2012) Bone Marrow Res , vol.2012
    • Chotinantakul, K.1    Leeanansaksiri, W.2
  • 46
    • 32944476769 scopus 로고    scopus 로고
    • Enzyme replacement for lysosomal diseases
    • 46 Brady RO. Enzyme replacement for lysosomal diseases. AnnuRevMed 2006;57:283–296.
    • (2006) Annurevmed , vol.57 , pp. 283-296
    • Brady, R.O.1
  • 47
    • 42949118684 scopus 로고    scopus 로고
    • Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
    • 47 Hruska KS, LaMarca ME, Scott CR et al. Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008;29:567–583.
    • (2008) Hum Mutat , vol.29 , pp. 567-583
    • Hruska, K.S.1    Lamarca, M.E.2    Scott, C.R.3
  • 48
    • 43049091862 scopus 로고    scopus 로고
    • Gaucher disease: Review of the literature
    • 48 Chen M, Wang J. Gaucher disease: Review of the literature. Arch Pathol Lab Med 2008;132:851–853.
    • (2008) Arch Pathol Lab Med , vol.132 , pp. 851-853
    • Chen, M.1    Wang, J.2
  • 49
    • 0033911997 scopus 로고    scopus 로고
    • Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
    • 49 Koprivica V, Stone DL, Park JK et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66:1777–1786.
    • (2000) Am J Hum Genet , vol.66 , pp. 1777-1786
    • Koprivica, V.1    Stone, D.L.2    Park, J.K.3


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