메뉴 건너뛰기




Volumn 109, Issue 2, 2013, Pages 183-193

The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade

Author keywords

Glucuronidase; Dog; Dysostosis multiplex; Gene therapy; Mucopolysaccharidosis; Retroviral vector

Indexed keywords

BETA GLUCURONIDASE; RETROVIRUS VECTOR;

EID: 84878515331     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.03.013     Document Type: Article
Times cited : (23)

References (60)
  • 1
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
    • Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease 2001, 3421. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3421
    • Neufeld, E.F.1    Muenzer, J.2
  • 2
    • 52949116848 scopus 로고    scopus 로고
    • The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
    • Moore D., Connock M.J., Wraith E., Lavery C. The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J. Rare Dis. Sep 16 2008, 3:24.
    • (2008) Orphanet J. Rare Dis. , vol.3 , pp. 24
    • Moore, D.1    Connock, M.J.2    Wraith, E.3    Lavery, C.4
  • 3
    • 77953467194 scopus 로고    scopus 로고
    • Orthopedic management of mucopolysaccharide disease
    • White K.K., Harmatz P. Orthopedic management of mucopolysaccharide disease. J. Pediatr. Rehabil. Med. 2010, 3:47-56.
    • (2010) J. Pediatr. Rehabil. Med. , vol.3 , pp. 47-56
    • White, K.K.1    Harmatz, P.2
  • 4
    • 84855590904 scopus 로고    scopus 로고
    • Orthopaedic aspects of mucopolysaccharidoses
    • White K.K. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl. 5):v26-v33.
    • (2011) Rheumatology (Oxford) , vol.50 , Issue.SUPPL. 5
    • White, K.K.1
  • 8
    • 0347419495 scopus 로고    scopus 로고
    • Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation
    • Weisstein J.S., Delgado E., Steinbach L.S., Hart K., Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J. Pediatr. Orthop. 2004, 24:97-101.
    • (2004) J. Pediatr. Orthop. , vol.24 , pp. 97-101
    • Weisstein, J.S.1    Delgado, E.2    Steinbach, L.S.3    Hart, K.4    Packman, S.5
  • 9
    • 33947615114 scopus 로고    scopus 로고
    • International Morquio A Registry: clinical manifestation and natural course of Morquio A disease
    • Montano A.M., Tomatsu S., Gottesman G.S., Smith M., Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J. Inherit. Metab. Dis. 2007, 30:165-174.
    • (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 165-174
    • Montano, A.M.1    Tomatsu, S.2    Gottesman, G.S.3    Smith, M.4    Orii, T.5
  • 12
    • 79958827078 scopus 로고    scopus 로고
    • Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III)
    • White K.K., Karol L.A., White D.R., Hale S. Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III). J. Pediatr. Orthop. 2011, 31:594-598.
    • (2011) J. Pediatr. Orthop. , vol.31 , pp. 594-598
    • White, K.K.1    Karol, L.A.2    White, D.R.3    Hale, S.4
  • 13
    • 67349262798 scopus 로고    scopus 로고
    • Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry
    • Arn P., Wraith J.E., Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J. Pediatr. 2009, 154(859-864):e853.
    • (2009) J. Pediatr. , vol.154 , Issue.859-864
    • Arn, P.1    Wraith, J.E.2    Underhill, L.3
  • 14
    • 0015582263 scopus 로고
    • Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis
    • Sly W.S., Quinton B.A., McAlister W.H., Rimoin D.L. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J. Pediatr. 1973, 82:249-257.
    • (1973) J. Pediatr. , vol.82 , pp. 249-257
    • Sly, W.S.1    Quinton, B.A.2    McAlister, W.H.3    Rimoin, D.L.4
  • 16
    • 0028186727 scopus 로고
    • Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency
    • Vogler C., Levy B., Kyle J.W., Sly W.S., Williamson J., Whyte M.P. Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency. Mod. Pathol. 1994, 7:132-137.
    • (1994) Mod. Pathol. , vol.7 , pp. 132-137
    • Vogler, C.1    Levy, B.2    Kyle, J.W.3    Sly, W.S.4    Williamson, J.5    Whyte, M.P.6
  • 17
    • 0026641461 scopus 로고
    • Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia
    • de Kremer R.D., Givogri I., Argarana C.E., Hliba E., Conci R., Boldini C.D., Capra A.P. Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia. Am. J. Med. Genet. 1992, 44:145-152.
    • (1992) Am. J. Med. Genet. , vol.44 , pp. 145-152
    • de Kremer, R.D.1    Givogri, I.2    Argarana, C.E.3    Hliba, E.4    Conci, R.5    Boldini, C.D.6    Capra, A.P.7
  • 19
    • 84878502390 scopus 로고    scopus 로고
    • Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII
    • Rowan D.J., Tomatsu S., Grubb J.H., Montaño A.M., Sly W.S. Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. J. Inherit. Metab. Dis. 2013, 36:235-246.
    • (2013) J. Inherit. Metab. Dis. , vol.36 , pp. 235-246
    • Rowan, D.J.1    Tomatsu, S.2    Grubb, J.H.3    Montaño, A.M.4    Sly, W.S.5
  • 20
    • 0026472771 scopus 로고
    • Stress fracture of the femoral neck in a young adult with Maroteaux-Lamy syndrome
    • Guiral J., Sanchez J.M., Gonzalez M.A. Stress fracture of the femoral neck in a young adult with Maroteaux-Lamy syndrome. Acta Orthop. Belg. 1992, 58:91-92.
    • (1992) Acta Orthop. Belg. , vol.58 , pp. 91-92
    • Guiral, J.1    Sanchez, J.M.2    Gonzalez, M.A.3
  • 21
    • 84856061977 scopus 로고    scopus 로고
    • Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report
    • Baz A.B., Akalin S., Arik H., Ergün A. Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report. Acta Orthop. Traumatol. Turc. 2011, 45:466-469.
    • (2011) Acta Orthop. Traumatol. Turc. , vol.45 , pp. 466-469
    • Baz, A.B.1    Akalin, S.2    Arik, H.3    Ergün, A.4
  • 23
    • 77954651674 scopus 로고    scopus 로고
    • Cartilage and chondrocyte pathology in the mucopolysaccharidoses: the role of glycosaminoglycan-mediated inflammation
    • Simonaro C.M. Cartilage and chondrocyte pathology in the mucopolysaccharidoses: the role of glycosaminoglycan-mediated inflammation. J. Pediatr. Rehabil. Med. 2010, 3:85-88.
    • (2010) J. Pediatr. Rehabil. Med. , vol.3 , pp. 85-88
    • Simonaro, C.M.1
  • 24
    • 17744378748 scopus 로고    scopus 로고
    • Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models
    • Simonaro C.M., D'Angelo M., Haskins M.E., Schuchman E.H. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr. Res. 2005, 57:701-707.
    • (2005) Pediatr. Res. , vol.57 , pp. 701-707
    • Simonaro, C.M.1    D'Angelo, M.2    Haskins, M.E.3    Schuchman, E.H.4
  • 26
    • 38749093729 scopus 로고    scopus 로고
    • Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases
    • Simonaro C.M., D'Angelo M., He X., Eliyahu E., Shtraizent N., Haskins M.E., Schuchman E.H. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am. J. Pathol. 2008, 172:112-122.
    • (2008) Am. J. Pathol. , vol.172 , pp. 112-122
    • Simonaro, C.M.1    D'Angelo, M.2    He, X.3    Eliyahu, E.4    Shtraizent, N.5    Haskins, M.E.6    Schuchman, E.H.7
  • 27
    • 0037094084 scopus 로고    scopus 로고
    • Receptor-mediated monitoring of tissue well-being via detection of soluble heparan sulfate by Toll-like receptor 4
    • Johnson G.B., Brunn G.J., Kodaira Y., Platt J.L. Receptor-mediated monitoring of tissue well-being via detection of soluble heparan sulfate by Toll-like receptor 4. J. Immunol. 2002, 168:5233-5239.
    • (2002) J. Immunol. , vol.168 , pp. 5233-5239
    • Johnson, G.B.1    Brunn, G.J.2    Kodaira, Y.3    Platt, J.L.4
  • 28
    • 84874666015 scopus 로고    scopus 로고
    • Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
    • Lai A., Simonaro C.M., Schuchman E.H., Ge Y., Laudier D.M., Iatridis J.C. Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). J. Orthop. Res. 2013, 31:621-631.
    • (2013) J. Orthop. Res. , vol.31 , pp. 621-631
    • Lai, A.1    Simonaro, C.M.2    Schuchman, E.H.3    Ge, Y.4    Laudier, D.M.5    Iatridis, J.C.6
  • 30
    • 76249093889 scopus 로고    scopus 로고
    • Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses
    • Simonaro C.M., Ge Y., Eliyahu E., He X., Jepsen K.J., Schuchman E.H. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:222-227.
    • (2010) Proc. Natl. Acad. Sci. U. S. A. , vol.107 , pp. 222-227
    • Simonaro, C.M.1    Ge, Y.2    Eliyahu, E.3    He, X.4    Jepsen, K.J.5    Schuchman, E.H.6
  • 31
    • 77949801547 scopus 로고    scopus 로고
    • Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII
    • Smith L.J., Martin J.T., Szczesny S.E., Ponder K.P., Haskins M.E., Elliott D.M. Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII. J. Orthop. Res. 2010, 28:616-622.
    • (2010) J. Orthop. Res. , vol.28 , pp. 616-622
    • Smith, L.J.1    Martin, J.T.2    Szczesny, S.E.3    Ponder, K.P.4    Haskins, M.E.5    Elliott, D.M.6
  • 33
    • 77950586398 scopus 로고    scopus 로고
    • Therapy for lysosomal storage disorders
    • Beck M. Therapy for lysosomal storage disorders. IUBMB Life 2010, 62:33-40.
    • (2010) IUBMB Life , vol.62 , pp. 33-40
    • Beck, M.1
  • 36
    • 77954629992 scopus 로고    scopus 로고
    • Musculoskeletal health in Hunter disease (MPS II): ERT improves functional outcomes
    • White K.K., Hale S., Goldberg M.J. Musculoskeletal health in Hunter disease (MPS II): ERT improves functional outcomes. J. Pediatr. Rehabil. Med. 2010, 3:101-107.
    • (2010) J. Pediatr. Rehabil. Med. , vol.3 , pp. 101-107
    • White, K.K.1    Hale, S.2    Goldberg, M.J.3
  • 38
    • 82255179466 scopus 로고    scopus 로고
    • Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI
    • Furujo M., Kubo T., Kosuga M., Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol. Genet. Metab. 2011, 104:597-602.
    • (2011) Mol. Genet. Metab. , vol.104 , pp. 597-602
    • Furujo, M.1    Kubo, T.2    Kosuga, M.3    Okuyama, T.4
  • 41
    • 0036168867 scopus 로고    scopus 로고
    • Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs
    • Xu L., Haskins M.E., Melniczek J.R., Gao C., Weil M.A., O'Malley T.M., O'Donnell P.A., Mazrier H., Ellinwood N.M., Zweigle J., Wolfe J.H., Ponder K.P. Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs. Mol. Ther. 2002, 5:141-153.
    • (2002) Mol. Ther. , vol.5 , pp. 141-153
    • Xu, L.1    Haskins, M.E.2    Melniczek, J.R.3    Gao, C.4    Weil, M.A.5    O'Malley, T.M.6    O'Donnell, P.A.7    Mazrier, H.8    Ellinwood, N.M.9    Zweigle, J.10    Wolfe, J.H.11    Ponder, K.P.12
  • 43
    • 53749102830 scopus 로고    scopus 로고
    • Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy
    • Herati R.S., Knox V.W., O'Donnell P., D'Angelo M., Haskins M.E., Ponder K.P. Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol. Genet. Metab. 2008, 95:142-151.
    • (2008) Mol. Genet. Metab. , vol.95 , pp. 142-151
    • Herati, R.S.1    Knox, V.W.2    O'Donnell, P.3    D'Angelo, M.4    Haskins, M.E.5    Ponder, K.P.6
  • 44
    • 1942521291 scopus 로고    scopus 로고
    • Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs
    • Mango R.L., Xu L., Sands M.S., Vogler C., Seiler G., Schwarz T., Haskins M.E., Ponder K.P. Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. Mol. Genet. Metab. 2004, 82:4-19.
    • (2004) Mol. Genet. Metab. , vol.82 , pp. 4-19
    • Mango, R.L.1    Xu, L.2    Sands, M.S.3    Vogler, C.4    Seiler, G.5    Schwarz, T.6    Haskins, M.E.7    Ponder, K.P.8
  • 50
    • 0032950958 scopus 로고    scopus 로고
    • Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII
    • Ray J., Scarpino V., Laing C., Haskins M.E. Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII. J. Hered. 1999, 90:119-123.
    • (1999) J. Hered. , vol.90 , pp. 119-123
    • Ray, J.1    Scarpino, V.2    Laing, C.3    Haskins, M.E.4
  • 52
    • 79959691939 scopus 로고    scopus 로고
    • Serum cysteine proteases and their inhibitors in rheumatoid arthritis: relation to disease activity and radiographic progression
    • Jorgensen I., Kos J., Krasovec M., Troelsen L., Klarlund M., Jensen T.W., Hansen M.S., Jacobsen S. Serum cysteine proteases and their inhibitors in rheumatoid arthritis: relation to disease activity and radiographic progression. Clin. Rheumatol. 2011, 30:633-638.
    • (2011) Clin. Rheumatol. , vol.30 , pp. 633-638
    • Jorgensen, I.1    Kos, J.2    Krasovec, M.3    Troelsen, L.4    Klarlund, M.5    Jensen, T.W.6    Hansen, M.S.7    Jacobsen, S.8
  • 53
    • 80051940065 scopus 로고    scopus 로고
    • Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI
    • Eliyahu E., Wolfson T., Ge Y., Jepsen H.J., Schuchman E.H., Simonaro C.M. Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. PLoS One 2011, 6:e22447.
    • (2011) PLoS One , vol.6
    • Eliyahu, E.1    Wolfson, T.2    Ge, Y.3    Jepsen, H.J.4    Schuchman, E.H.5    Simonaro, C.M.6
  • 54
    • 0032211766 scopus 로고    scopus 로고
    • Cathepsin B: an alternative protease for the generation of an aggrecan 'metalloproteinase' cleavage neoepitope
    • Mort J.S., Magny M.C., Lee E.R. Cathepsin B: an alternative protease for the generation of an aggrecan 'metalloproteinase' cleavage neoepitope. Biochem. J. 1998, 335:491-494.
    • (1998) Biochem. J. , vol.335 , pp. 491-494
    • Mort, J.S.1    Magny, M.C.2    Lee, E.R.3
  • 55
    • 0026701977 scopus 로고
    • The interglobular domain of cartilage aggrecan is cleaved by PUMP, gelatinases, and cathepsin B
    • Fosang A.J., Neame P.J., Last K., Hardingham T.E., Murphy G., Hamilton J.A. The interglobular domain of cartilage aggrecan is cleaved by PUMP, gelatinases, and cathepsin B. J. Biol. Chem. 1992, 267:19470-19474.
    • (1992) J. Biol. Chem. , vol.267 , pp. 19470-19474
    • Fosang, A.J.1    Neame, P.J.2    Last, K.3    Hardingham, T.E.4    Murphy, G.5    Hamilton, J.A.6
  • 57
    • 0037344452 scopus 로고    scopus 로고
    • Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII
    • Kamata Y., Tanabe A., Kanaji A., Kosuga M., Fukuhara Y., Li X.K., Suzuki S., Yamada M., Azuma N., Okuyama T. Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. Gene Ther. 2003, 10:406-414.
    • (2003) Gene Ther. , vol.10 , pp. 406-414
    • Kamata, Y.1    Tanabe, A.2    Kanaji, A.3    Kosuga, M.4    Fukuhara, Y.5    Li, X.K.6    Suzuki, S.7    Yamada, M.8    Azuma, N.9    Okuyama, T.10
  • 58
    • 0034824239 scopus 로고    scopus 로고
    • Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer
    • Daly T.M., Ohlemiller K.K., Roberts M.S., Vogler C.A., Sands M.S. Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer. Gene Ther. 2001, 8:1291-1298.
    • (2001) Gene Ther. , vol.8 , pp. 1291-1298
    • Daly, T.M.1    Ohlemiller, K.K.2    Roberts, M.S.3    Vogler, C.A.4    Sands, M.S.5
  • 60
    • 84255196304 scopus 로고    scopus 로고
    • Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity
    • Wu C., Dunbar C.E. Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity. Front. Med. 2011, 5:356-371.
    • (2011) Front. Med. , vol.5 , pp. 356-371
    • Wu, C.1    Dunbar, C.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.