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Volumn 99, Issue 1, 2010, Pages 62-71

Corrigendum to "Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation" [Mol. Genet. Metab. 99 (2010) 62-71] (DOI:10.1016/j.ymgme.2009.08.002);Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation

Author keywords

Hurler syndrome; Mouse; MPS I; W402X mutation; l iduronidase

Indexed keywords

DERMATAN SULFATE; HEPARAN SULFATE; LEVO IDURONIDASE;

EID: 71649101421     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.12.013     Document Type: Erratum
Times cited : (48)

References (53)
  • 1
    • 64449085191 scopus 로고    scopus 로고
    • Pathogenic cascades in lysosomal disease - Why so complex?
    • Walkley S.U. Pathogenic cascades in lysosomal disease - Why so complex?. J. Inherit. Metab. Dis. 32 (2009) 181-189
    • (2009) J. Inherit. Metab. Dis. , vol.32 , pp. 181-189
    • Walkley, S.U.1
  • 3
    • 2942687937 scopus 로고    scopus 로고
    • The cell biology of lysosomal storage disorders
    • Futerman A.H., and Van Meer G. The cell biology of lysosomal storage disorders. Nat. Rev. Mol. Cell Biol. 5 (2004) 554-565
    • (2004) Nat. Rev. Mol. Cell Biol. , vol.5 , pp. 554-565
    • Futerman, A.H.1    Van Meer, G.2
  • 4
    • 62949116803 scopus 로고    scopus 로고
    • Lysosomal disorders: from storage to cellular damage
    • Ballabio A., and Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim. Biophys. Acta 1793 (2009) 684-696
    • (2009) Biochim. Biophys. Acta , vol.1793 , pp. 684-696
    • Ballabio, A.1    Gieselmann, V.2
  • 5
    • 0032790491 scopus 로고    scopus 로고
    • Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats
    • He X., Li C.M., Simonaro C.M., Wan Q., Haskins M.E., Desnick R.J., and Schuchman E.H. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol. Genet. Metab. 67 (1999) 106-112
    • (1999) Mol. Genet. Metab. , vol.67 , pp. 106-112
    • He, X.1    Li, C.M.2    Simonaro, C.M.3    Wan, Q.4    Haskins, M.E.5    Desnick, R.J.6    Schuchman, E.H.7
  • 9
    • 0026595304 scopus 로고
    • Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I
    • Menon K.P., Tieu P.T., and Neufeld E.F. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics 14 (1992) 763-768
    • (1992) Genomics , vol.14 , pp. 763-768
    • Menon, K.P.1    Tieu, P.T.2    Neufeld, E.F.3
  • 12
    • 0041387505 scopus 로고    scopus 로고
    • Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow
    • Zheng Y., Rozengurt N., Ryazantsev S., Kohn D.B., Satake N., and Neufeld E.F. Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. Mol. Genet. Metab. 79 (2003) 233-244
    • (2003) Mol. Genet. Metab. , vol.79 , pp. 233-244
    • Zheng, Y.1    Rozengurt, N.2    Ryazantsev, S.3    Kohn, D.B.4    Satake, N.5    Neufeld, E.F.6
  • 14
    • 34848831191 scopus 로고    scopus 로고
    • Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy
    • Garcia-Rivera M.F., Colvin-Wanshura L.E., Nelson M.S., Nan Z., Khan S.A., Rogers T.B., Maitra I., Low W.C., and Gupta P. Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy. Brain Res. Bull. 74 (2007) 429-438
    • (2007) Brain Res. Bull. , vol.74 , pp. 429-438
    • Garcia-Rivera, M.F.1    Colvin-Wanshura, L.E.2    Nelson, M.S.3    Nan, Z.4    Khan, S.A.5    Rogers, T.B.6    Maitra, I.7    Low, W.C.8    Gupta, P.9
  • 15
    • 3042857400 scopus 로고    scopus 로고
    • Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-l-iduronidase gene
    • Hartung S.D., Frandsen J.L., Pan D., Koniar B.L., Graupman P., Gunther R., Low W.C., Whitley C.B., and McIvor R.S. Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-l-iduronidase gene. Mol. Ther. 9 (2004) 866-875
    • (2004) Mol. Ther. , vol.9 , pp. 866-875
    • Hartung, S.D.1    Frandsen, J.L.2    Pan, D.3    Koniar, B.L.4    Graupman, P.5    Gunther, R.6    Low, W.C.7    Whitley, C.B.8    McIvor, R.S.9
  • 18
    • 3042699515 scopus 로고    scopus 로고
    • Craniofacial abnormalities in a murine knock-out model of mucopolysaccharidosis I H: a computed tomography and anatomic study
    • Graupman P., Pan D., Konair B., Hartung S., McIvor S., Whitley C., Low W., and Lam C.H. Craniofacial abnormalities in a murine knock-out model of mucopolysaccharidosis I H: a computed tomography and anatomic study. J. Craniofac. Surg. 15 (2004) 392-398
    • (2004) J. Craniofac. Surg. , vol.15 , pp. 392-398
    • Graupman, P.1    Pan, D.2    Konair, B.3    Hartung, S.4    McIvor, S.5    Whitley, C.6    Low, W.7    Lam, C.H.8
  • 20
    • 37349103032 scopus 로고    scopus 로고
    • Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome
    • Pan D., Sciascia II A., Vorhees C.V., and Williams M.T. Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome. Brain Res. 1188 (2008) 241-253
    • (2008) Brain Res. , vol.1188 , pp. 241-253
    • Pan, D.1    Sciascia II, A.2    Vorhees, C.V.3    Williams, M.T.4
  • 21
    • 33644861252 scopus 로고    scopus 로고
    • Long-term memory for aversive training is impaired in Idua(-/-) mice, a genetic model of mucopolysaccharidosis type I
    • Reolon G.K., Braga L.M., Camassola M., Luft T., Henriques J.A., Nardi N.B., and Roesler R. Long-term memory for aversive training is impaired in Idua(-/-) mice, a genetic model of mucopolysaccharidosis type I. Brain Res. 1076 (2006) 225-230
    • (2006) Brain Res. , vol.1076 , pp. 225-230
    • Reolon, G.K.1    Braga, L.M.2    Camassola, M.3    Luft, T.4    Henriques, J.A.5    Nardi, N.B.6    Roesler, R.7
  • 22
    • 33644816659 scopus 로고    scopus 로고
    • Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome
    • Braunlin E., Mackey-Bojack S., Panoskaltsis-Mortari A., Berry J.M., McElmurry R.T., Riddle M., Sun L.Y., Clarke L.A., Tolar J., and Blazar B.R. Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome. Pediatr. Res. 59 (2006) 27-32
    • (2006) Pediatr. Res. , vol.59 , pp. 27-32
    • Braunlin, E.1    Mackey-Bojack, S.2    Panoskaltsis-Mortari, A.3    Berry, J.M.4    McElmurry, R.T.5    Riddle, M.6    Sun, L.Y.7    Clarke, L.A.8    Tolar, J.9    Blazar, B.R.10
  • 25
    • 0018405128 scopus 로고
    • A fluorometric assay using 4-methylumbelliferyl alpha-l-iduronide for the estimation of alpha-l-iduronidase activity and the detection of Hurler and Scheie syndromes
    • Hopwood J.J., Muller V., Smithson A., and Baggett N. A fluorometric assay using 4-methylumbelliferyl alpha-l-iduronide for the estimation of alpha-l-iduronidase activity and the detection of Hurler and Scheie syndromes. Clin. Chim. Acta 92 (1979) 257-265
    • (1979) Clin. Chim. Acta , vol.92 , pp. 257-265
    • Hopwood, J.J.1    Muller, V.2    Smithson, A.3    Baggett, N.4
  • 28
    • 0024520993 scopus 로고
    • Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion
    • Whitley C.B., Ridnour M.D., Draper K.A., Dutton C.M., and Neglia J.P. Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin. Chem. 35 (1989) 374-379
    • (1989) Clin. Chem. , vol.35 , pp. 374-379
    • Whitley, C.B.1    Ridnour, M.D.2    Draper, K.A.3    Dutton, C.M.4    Neglia, J.P.5
  • 29
    • 0026872139 scopus 로고
    • Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue
    • de Jong J.G., Wevers R.A., and Liebrand-van Sambeek R. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin. Chem. 38 (1992) 803-807
    • (1992) Clin. Chem. , vol.38 , pp. 803-807
    • de Jong, J.G.1    Wevers, R.A.2    Liebrand-van Sambeek, R.3
  • 31
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak K.J., and Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25 (2001) 402-408
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 32
    • 0028841213 scopus 로고
    • Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications
    • Scott H.S., Bunge S., Gal A., Clarke L.A., Morris C.P., and Hopwood J.J. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum. Mutat. 6 (1995) 288-302
    • (1995) Hum. Mutat. , vol.6 , pp. 288-302
    • Scott, H.S.1    Bunge, S.2    Gal, A.3    Clarke, L.A.4    Morris, C.P.5    Hopwood, J.J.6
  • 33
    • 0027219029 scopus 로고
    • MRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor
    • Peltz S.W., Brown A.H., and Jacobson A. MRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor. Genes Dev. 7 (1993) 1737-1754
    • (1993) Genes Dev. , vol.7 , pp. 1737-1754
    • Peltz, S.W.1    Brown, A.H.2    Jacobson, A.3
  • 34
    • 0028540401 scopus 로고
    • Evidence for degradation of mRNA encoding alpha-l-iduronidase in Hurler fibroblasts with premature termination alleles
    • Menon K.P., and Neufeld E.F. Evidence for degradation of mRNA encoding alpha-l-iduronidase in Hurler fibroblasts with premature termination alleles. Cell. Mol. Biol. (Noisy-le-Grand) 40 (1994) 999-1005
    • (1994) Cell. Mol. Biol. (Noisy-le-Grand) , vol.40 , pp. 999-1005
    • Menon, K.P.1    Neufeld, E.F.2
  • 35
    • 33846258188 scopus 로고    scopus 로고
    • Effect of neonatal administration of a retroviral vector expressing alpha-l-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice
    • Chung S., Ma X., Liu Y., Lee D., Tittiger M., and Ponder K.P. Effect of neonatal administration of a retroviral vector expressing alpha-l-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice. Mol. Genet. Metab. 90 (2007) 181-192
    • (2007) Mol. Genet. Metab. , vol.90 , pp. 181-192
    • Chung, S.1    Ma, X.2    Liu, Y.3    Lee, D.4    Tittiger, M.5    Ponder, K.P.6
  • 36
    • 34247281922 scopus 로고    scopus 로고
    • Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation
    • Ma X., Liu Y., Tittiger M., Hennig A., Kovacs A., Popelka S., Wang B., Herati R., Bigg M., and Ponder K.P. Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation. Mol. Ther. 15 (2007) 889-902
    • (2007) Mol. Ther. , vol.15 , pp. 889-902
    • Ma, X.1    Liu, Y.2    Tittiger, M.3    Hennig, A.4    Kovacs, A.5    Popelka, S.6    Wang, B.7    Herati, R.8    Bigg, M.9    Ponder, K.P.10
  • 38
    • 0141612016 scopus 로고    scopus 로고
    • Targeted gene repair - in the arena
    • Kmiec E.B. Targeted gene repair - in the arena. J. Clin. Invest. 112 (2003) 632-636
    • (2003) J. Clin. Invest. , vol.112 , pp. 632-636
    • Kmiec, E.B.1
  • 39
    • 54849413018 scopus 로고    scopus 로고
    • Introducing sense into nonsense in treatments of human genetic diseases
    • Linde L., and Kerem B. Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet. 24 (2008) 552-563
    • (2008) Trends Genet. , vol.24 , pp. 552-563
    • Linde, L.1    Kerem, B.2
  • 40
    • 28444444209 scopus 로고    scopus 로고
    • Pharmacological suppression of premature stop mutations that cause genetic diseases
    • Keeling K.M., and Bedwell D.M. Pharmacological suppression of premature stop mutations that cause genetic diseases. Curr. Pharmacogenomics 3 (2005) 259-269
    • (2005) Curr. Pharmacogenomics , vol.3 , pp. 259-269
    • Keeling, K.M.1    Bedwell, D.M.2
  • 41
    • 33746241417 scopus 로고    scopus 로고
    • Therapies of nonsense-associated diseases
    • Maquat L.E. (Ed), Landes Bioscience, Georgetown, Texas
    • Keeling K.M., Du M., and Bedwell D.M. Therapies of nonsense-associated diseases. In: Maquat L.E. (Ed). Nonsense-Mediated mRNA Decay (2006), Landes Bioscience, Georgetown, Texas 121-136
    • (2006) Nonsense-Mediated mRNA Decay , pp. 121-136
    • Keeling, K.M.1    Du, M.2    Bedwell, D.M.3
  • 42
    • 0035253591 scopus 로고    scopus 로고
    • Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-l-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
    • Keeling K.M., Brooks D.A., Hopwood J.J., Li P., Thompson J.N., and Bedwell D.M. Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-l-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum. Mol. Genet. 10 (2001) 291-299
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 291-299
    • Keeling, K.M.1    Brooks, D.A.2    Hopwood, J.J.3    Li, P.4    Thompson, J.N.5    Bedwell, D.M.6
  • 43
    • 0035997219 scopus 로고    scopus 로고
    • Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
    • Keeling K.M., and Bedwell D.M. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system. J. Mol. Med. 80 (2002) 367-376
    • (2002) J. Mol. Med. , vol.80 , pp. 367-376
    • Keeling, K.M.1    Bedwell, D.M.2
  • 44
    • 33746632991 scopus 로고    scopus 로고
    • Stop-codon read-through for patients affected by a lysosomal storage disorder
    • Brooks D.A., Muller V.J., and Hopwood J.J. Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol. Med. 12 (2006) 367-373
    • (2006) Trends Mol. Med. , vol.12 , pp. 367-373
    • Brooks, D.A.1    Muller, V.J.2    Hopwood, J.J.3
  • 46
    • 16844384688 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis type I
    • (discussion 57)
    • Miebach E. Enzyme replacement therapy in mucopolysaccharidosis type I. Acta Paediatr. 1 Suppl. 94 (2005) 58-60 (discussion 57)
    • (2005) Acta Paediatr. , vol.1 , Issue.SUPPL. 94 , pp. 58-60
    • Miebach, E.1
  • 47
    • 0020573337 scopus 로고
    • Effect of osmotic blood-brain barrier disruption on gentamicin penetration into the cerebrospinal fluid and brains of normal rabbits
    • Strausbaugh L.J., and Brinker G.S. Effect of osmotic blood-brain barrier disruption on gentamicin penetration into the cerebrospinal fluid and brains of normal rabbits. Antimicrob. Agents Chemother. 24 (1983) 147-150
    • (1983) Antimicrob. Agents Chemother. , vol.24 , pp. 147-150
    • Strausbaugh, L.J.1    Brinker, G.S.2
  • 49
    • 0014218376 scopus 로고
    • Intrathecal gentamicin in treatment of ventriculitis in children
    • Newman R.L., and Holt R.J. Intrathecal gentamicin in treatment of ventriculitis in children. Br. Med. J. 2 (1967) 539-542
    • (1967) Br. Med. J. , vol.2 , pp. 539-542
    • Newman, R.L.1    Holt, R.J.2
  • 50
    • 84963091374 scopus 로고
    • Pharmacologic evaluation of gentamicin in newborn infants
    • McCracken Jr. G.H., Chrane D.F., and Thomas M.L. Pharmacologic evaluation of gentamicin in newborn infants. J. Infect. Dis. 124 Suppl. 124 (1971) 214
    • (1971) J. Infect. Dis. , vol.124 , Issue.SUPPL. 124 , pp. 214
    • McCracken Jr., G.H.1    Chrane, D.F.2    Thomas, M.L.3
  • 51
    • 0026528670 scopus 로고
    • Effectiveness of a gentamicin dosing protocol based on postconceptional age: comparison to published neonatal guidelines
    • Lopez-Samblas A.M., Torres C.L., Wang H., Feuer W.J., and Goldberg R.N. Effectiveness of a gentamicin dosing protocol based on postconceptional age: comparison to published neonatal guidelines. Ann. Pharmacother. 26 (1992) 534-538
    • (1992) Ann. Pharmacother. , vol.26 , pp. 534-538
    • Lopez-Samblas, A.M.1    Torres, C.L.2    Wang, H.3    Feuer, W.J.4    Goldberg, R.N.5
  • 52
    • 0028886736 scopus 로고
    • The effects of age and chemotherapy on gentamicin pharmacokinetics and dosing in pediatric oncology patients
    • Ho K.K., Bryson S.M., Thiessen J.J., Greenberg M.L., Einarson T.R., and Leson C.L. The effects of age and chemotherapy on gentamicin pharmacokinetics and dosing in pediatric oncology patients. Pharmacotherapy 15 (1995) 754-764
    • (1995) Pharmacotherapy , vol.15 , pp. 754-764
    • Ho, K.K.1    Bryson, S.M.2    Thiessen, J.J.3    Greenberg, M.L.4    Einarson, T.R.5    Leson, C.L.6
  • 53
    • 34247197937 scopus 로고    scopus 로고
    • The nonsense-mediated decay RNA surveillance pathway
    • Chang Y.F., Imam J.S., and Wilkinson M.F. The nonsense-mediated decay RNA surveillance pathway. Ann. Rev. Biochem. 76 (2007) 51-74
    • (2007) Ann. Rev. Biochem. , vol.76 , pp. 51-74
    • Chang, Y.F.1    Imam, J.S.2    Wilkinson, M.F.3


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