메뉴 건너뛰기




Volumn 39, Issue 12, 2014, Pages 2139-2150

Disease stage determines the efficacy of treatment of a paediatric neurodegenerative disease

Author keywords

Lysosomal storage disorder; Mouse; Reversibility; Sanfilippo; Sulphamidase

Indexed keywords

GANGLIOSIDE GM3; GLIAL FIBRILLARY ACIDIC PROTEIN; LYSOSOMAL INTEGRAL MEMBRANE PROTEIN II; MEMBRANE PROTEIN; RECOMBINANT ENZYME; RECOMBINANT N SULFOGLUCOSAMINE SULFOHYDROLASE; UNCLASSIFIED DRUG; HYDROLASE; N-SULFOGLUCOSAMINE SULFOHYDROLASE; RECOMBINANT PROTEIN;

EID: 84902548162     PISSN: 0953816X     EISSN: 14609568     Source Type: Journal    
DOI: 10.1111/ejn.12557     Document Type: Article
Times cited : (17)

References (50)
  • 1
    • 79955153315 scopus 로고    scopus 로고
    • Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: the positive effect of long-term aspirin treatment
    • Arfi, A., Richard, M., Gandolphe, C., Bonnefont-Rousselot, D., Therond, P. & Scherman, D. (2011) Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: the positive effect of long-term aspirin treatment. Mol. Genet. Metab., 103, 18-25.
    • (2011) Mol. Genet. Metab. , vol.103 , pp. 18-25
    • Arfi, A.1    Richard, M.2    Gandolphe, C.3    Bonnefont-Rousselot, D.4    Therond, P.5    Scherman, D.6
  • 12
    • 0347093304 scopus 로고    scopus 로고
    • Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy
    • Dhami, R. & Schuchman, E.H. (2004) Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. J. Biol. Chem., 279, 1526-1532.
    • (2004) J. Biol. Chem. , vol.279 , pp. 1526-1532
    • Dhami, R.1    Schuchman, E.H.2
  • 16
    • 35548941400 scopus 로고    scopus 로고
    • Functional correction of CNS lesions in a MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
    • Fraldi, A., Hemsley, K., Crawley, A., Lombardi, A., Lau, A., Sutherland, L., Auricchio, A., Ballabio, A. & Hopwood, J. (2007) Functional correction of CNS lesions in a MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum. Mol. Genet., 16, 2693-2702.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 2693-2702
    • Fraldi, A.1    Hemsley, K.2    Crawley, A.3    Lombardi, A.4    Lau, A.5    Sutherland, L.6    Auricchio, A.7    Ballabio, A.8    Hopwood, J.9
  • 17
    • 0037336348 scopus 로고    scopus 로고
    • Mannose 6-phosphate receptors: new twists in the tale
    • Ghosh, P., Dahms, N.M. & Kornfeld, S. (2003) Mannose 6-phosphate receptors: new twists in the tale. Nat. Rev. Mol. Cell Biol., 4, 202-212.
    • (2003) Nat. Rev. Mol. Cell Biol. , vol.4 , pp. 202-212
    • Ghosh, P.1    Dahms, N.M.2    Kornfeld, S.3
  • 18
    • 3042647298 scopus 로고    scopus 로고
    • Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice
    • Gliddon, B.L. & Hopwood, J.J. (2004) Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice. Pediatr. Res., 56, 65-72.
    • (2004) Pediatr. Res. , vol.56 , pp. 65-72
    • Gliddon, B.L.1    Hopwood, J.J.2
  • 19
    • 40649102937 scopus 로고    scopus 로고
    • Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII
    • Grubb, J.H., Vogler, C., Levy, B., Galvin, N., Tan, Y. & Sly, W.S. (2008) Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA, 105, 2616-2621.
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 2616-2621
    • Grubb, J.H.1    Vogler, C.2    Levy, B.3    Galvin, N.4    Tan, Y.5    Sly, W.S.6
  • 20
    • 82955233827 scopus 로고    scopus 로고
    • Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality
    • Hemsley, K.M. & Hopwood, J.J. (2011) Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality. J. Inherit. Metab. Dis., 34, 1003-1012.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , pp. 1003-1012
    • Hemsley, K.M.1    Hopwood, J.J.2
  • 21
    • 33846904009 scopus 로고    scopus 로고
    • Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice
    • Hemsley, K.M., King, B. & Hopwood, J.J. (2007) Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. Mol. Genet. Metab., 90, 313-328.
    • (2007) Mol. Genet. Metab. , vol.90 , pp. 313-328
    • Hemsley, K.M.1    King, B.2    Hopwood, J.J.3
  • 22
    • 52949100951 scopus 로고    scopus 로고
    • Effect of high dose, repeated intra-CSF injection of sulphamidase on neuropathology in MPS IIIA mice
    • Hemsley, K.M., Beard, H., King, B.M. & Hopwood, J.J. (2008) Effect of high dose, repeated intra-CSF injection of sulphamidase on neuropathology in MPS IIIA mice. Genes Brain Behav., 7, 740-753.
    • (2008) Genes Brain Behav. , vol.7 , pp. 740-753
    • Hemsley, K.M.1    Beard, H.2    King, B.M.3    Hopwood, J.J.4
  • 26
    • 32044448993 scopus 로고    scopus 로고
    • Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA
    • King, B., Savas, P., Fuller, M., Hopwood, J. & Hemsley, K. (2006) Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA. Mol. Genet. Metab., 87, 107-112.
    • (2006) Mol. Genet. Metab. , vol.87 , pp. 107-112
    • King, B.1    Savas, P.2    Fuller, M.3    Hopwood, J.4    Hemsley, K.5
  • 27
    • 33846022746 scopus 로고    scopus 로고
    • AAV1 mediated co-expression of formylglycine-generating enzyme and arylsulfatase a efficiently corrects sulfatide storage in a mouse model of metachromatic leukodystrophy
    • Kurai, T., Hisayasu, S., Kitagawa, R., Migita, M., Suzuki, H., Hirai, Y. & Shimada, T. (2007) AAV1 mediated co-expression of formylglycine-generating enzyme and arylsulfatase a efficiently corrects sulfatide storage in a mouse model of metachromatic leukodystrophy. Mol. Ther., 15, 38-43.
    • (2007) Mol. Ther. , vol.15 , pp. 38-43
    • Kurai, T.1    Hisayasu, S.2    Kitagawa, R.3    Migita, M.4    Suzuki, H.5    Hirai, Y.6    Shimada, T.7
  • 28
    • 77956428075 scopus 로고    scopus 로고
    • Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice
    • Lau, A.A., Hannouche, H., Rozaklis, T., Hassiotis, S., Hopwood, J.J. & Hemsley, K.M. (2010a) Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice. Exp. Neurol., 225, 445-454.
    • (2010) Exp. Neurol. , vol.225 , pp. 445-454
    • Lau, A.A.1    Hannouche, H.2    Rozaklis, T.3    Hassiotis, S.4    Hopwood, J.J.5    Hemsley, K.M.6
  • 29
    • 77951976097 scopus 로고    scopus 로고
    • SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors
    • Lau, A.A., Hopwood, J.J., Kremer, E.J. & Hemsley, K.M. (2010b) SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors. Mol. Genet. Metab., 100, 168-175.
    • (2010) Mol. Genet. Metab. , vol.100 , pp. 168-175
    • Lau, A.A.1    Hopwood, J.J.2    Kremer, E.J.3    Hemsley, K.M.4
  • 30
    • 26844431562 scopus 로고    scopus 로고
    • Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors
    • Liu, G., Martins, I., Wemmie, J.A., Chiorini, J.A. & Davidson, B.L. (2005) Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors. J. Neurosci., 25, 9321-9327.
    • (2005) J. Neurosci. , vol.25 , pp. 9321-9327
    • Liu, G.1    Martins, I.2    Wemmie, J.A.3    Chiorini, J.A.4    Davidson, B.L.5
  • 31
    • 33846312858 scopus 로고    scopus 로고
    • Adeno-associated virus type 5 reduces learning deficits and restores glutamate receptor subunit levels in MPS VII mice CNS
    • Liu, G., Chen, Y.H., He, X., Martins, I., Heth, J.A., Chiorini, J.A. & Davidson, B.L. (2007) Adeno-associated virus type 5 reduces learning deficits and restores glutamate receptor subunit levels in MPS VII mice CNS. Mol. Ther., 15, 242-247.
    • (2007) Mol. Ther. , vol.15 , pp. 242-247
    • Liu, G.1    Chen, Y.H.2    He, X.3    Martins, I.4    Heth, J.A.5    Chiorini, J.A.6    Davidson, B.L.7
  • 32
    • 79957890647 scopus 로고    scopus 로고
    • Therapeutic potential of intracerebroventricular replacement of modified human beta-hexosaminidase B for GM2 gangliosidosis
    • Matsuoka, K., Tamura, T., Tsuji, D., Dohzono, Y., Kitakaze, K., Ohno, K., Saito, S., Sakuraba, H. & Itoh, K. (2011) Therapeutic potential of intracerebroventricular replacement of modified human beta-hexosaminidase B for GM2 gangliosidosis. Mol. Ther., 19, 1017-1024.
    • (2011) Mol. Ther. , vol.19 , pp. 1017-1024
    • Matsuoka, K.1    Tamura, T.2    Tsuji, D.3    Dohzono, Y.4    Kitakaze, K.5    Ohno, K.6    Saito, S.7    Sakuraba, H.8    Itoh, K.9
  • 34
    • 77953049350 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study
    • McGill, J.J., Inwood, A.C., Coman, D.J., Lipke, M.L., de Lore, D., Swiedler, S.J. & Hopwood, J.J. (2010) Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study. Clin. Genet., 77, 492-498.
    • (2010) Clin. Genet. , vol.77 , pp. 492-498
    • McGill, J.J.1    Inwood, A.C.2    Coman, D.J.3    Lipke, M.L.4    de Lore, D.5    Swiedler, S.J.6    Hopwood, J.J.7
  • 35
    • 9744229206 scopus 로고    scopus 로고
    • Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
    • McGlynn, R., Dobrenis, K. & Walkley, S.U. (2004) Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J. Comp. Neurol., 480, 415-426.
    • (2004) J. Comp. Neurol. , vol.480 , pp. 415-426
    • McGlynn, R.1    Dobrenis, K.2    Walkley, S.U.3
  • 36
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • Meikle, P.J., Hopwood, J.J., Clague, A.E. & Carey, W.F. (1999) Prevalence of lysosomal storage disorders. JAMA, 281, 249-254.
    • (1999) JAMA , vol.281 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3    Carey, W.F.4
  • 37
    • 84863692409 scopus 로고    scopus 로고
    • Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification
    • Meng, Y., Sohar, I., Wang, L., Sleat, D.E. & Lobel, P. (2012) Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. PLoS ONE, 7, e40509.
    • (2012) PLoS ONE , vol.7
    • Meng, Y.1    Sohar, I.2    Wang, L.3    Sleat, D.E.4    Lobel, P.5
  • 42
    • 4043150072 scopus 로고    scopus 로고
    • Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA
    • Savas, P.S., Hemsley, K.M. & Hopwood, J.J. (2004) Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. Mol. Genet. Metab., 82, 273-285.
    • (2004) Mol. Genet. Metab. , vol.82 , pp. 273-285
    • Savas, P.S.1    Hemsley, K.M.2    Hopwood, J.J.3
  • 43
    • 79955792706 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
    • Schulze-Frenking, G., Jones, S.A., Roberts, J., Beck, M. & Wraith, J.E. (2011) Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J. Inherit. Metab. Dis., 34, 203-208.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , pp. 203-208
    • Schulze-Frenking, G.1    Jones, S.A.2    Roberts, J.3    Beck, M.4    Wraith, J.E.5
  • 45
    • 79959813959 scopus 로고    scopus 로고
    • Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy
    • Stroobants, S., Gerlach, D., Matthes, F., Hartmann, D., Fogh, J., Gieselmann, V., D'Hooge, R. & Matzner, U. (2011) Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy. Hum. Mol. Genet., 20, 2760-2769.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2760-2769
    • Stroobants, S.1    Gerlach, D.2    Matthes, F.3    Hartmann, D.4    Fogh, J.5    Gieselmann, V.6    D'Hooge, R.7    Matzner, U.8
  • 49
    • 2942672495 scopus 로고    scopus 로고
    • Secondary accumulation of gangliosides in lysosomal storage disorders
    • Walkley, S.U. (2004) Secondary accumulation of gangliosides in lysosomal storage disorders. Semin. Cell Dev. Biol., 15, 433-444.
    • (2004) Semin. Cell Dev. Biol. , vol.15 , pp. 433-444
    • Walkley, S.U.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.