메뉴 건너뛰기




Volumn , Issue , 2007, Pages 529-537

I-cell disease

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84878107467     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-387-70909-3_33     Document Type: Chapter
Times cited : (1)

References (34)
  • 1
    • 0029958044 scopus 로고    scopus 로고
    • Bovine UDP-N-acetylglucosamine: Lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: I. Purification and subunit structure
    • Bao, M., Booth, J. L., Elmendorf, B. J., and Canfield, W. M., 1996, Bovine UDP-N-acetylglucosamine: lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: I. Purification and subunit structure. J. Biol. Chem. 271:31437.
    • (1996) J. Biol. Chem. , vol.271 , pp. 31437
    • Bao, M.1    Booth, J.L.2    Elmendorf, B.J.3    Canfield, W.M.4
  • 2
    • 0034036097 scopus 로고    scopus 로고
    • A family of ADP-ribosylation factor effectors that can alter membrane transport through the trans-Golgi
    • Boman, A. L., Zhang, C., Zhu, X., and Kahn, R. A., 2000, A family of ADP-ribosylation factor effectors that can alter membrane transport through the trans-Golgi, Mol. Biol. Cell. 11:1241.
    • (2000) Mol. Biol. Cell. , vol.11 , pp. 1241
    • Boman, A.L.1    Zhang, C.2    Zhu, X.3    Kahn, R.A.4
  • 4
    • 0021143096 scopus 로고
    • Accumulation of coated vesicles bearing mannose 6-phosphate receptors for lysosomal enzymes in the Golgi region of I-cell fibroblasts
    • Brown, W. J., and Farquhar, M. G., 1984, Accumulation of coated vesicles bearing mannose 6-phosphate receptors for lysosomal enzymes in the Golgi region of I-cell fibroblasts, Proc. Natl. Acad. Sci. U S A. 81:5135.
    • (1984) Proc. Natl. Acad. Sci. U S A , vol.81 , pp. 5135
    • Brown, W.J.1    Farquhar, M.G.2
  • 5
    • 0018955806 scopus 로고
    • Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts
    • D'Azzo, A., Halley, D. J., Hoogeveen, A., and Galjaard, H., 1980, Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts, Am. J. Hum. Genet. 32:519.
    • (1980) Am. J. Hum. Genet. , vol.32 , pp. 519
    • D'Azzo, A.1    Halley, D.J.2    Hoogeveen, A.3    Galjaard, H.4
  • 8
    • 0242468169 scopus 로고    scopus 로고
    • Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: A long-term follow-up report
    • Grewal, S., Shapiro, E., Braunlin, E., Charnas, L., Krivit, W., Orchard, P., and Peters, C., 2003, Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: A long-term follow-up report, Bone Marrow Transplant. 32:957.
    • (2003) Bone Marrow Transplant. , vol.32 , pp. 957
    • Grewal, S.1    Shapiro, E.2    Braunlin, E.3    Charnas, L.4    Krivit, W.5    Orchard, P.6    Peters, C.7
  • 9
    • 0015511150 scopus 로고
    • A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes
    • Hickman, S., and Neufeld, E. F., 1992, A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes, Biochem. Biophys. Res. Commun. 49:992.
    • (1992) Biochem. Biophys. Res. Commun. , vol.49 , pp. 992
    • Hickman, S.1    Neufeld, E.F.2
  • 10
    • 0034599537 scopus 로고    scopus 로고
    • A family of proteins with gamma-adaptin and VHS domains that facilitate trafficking between the trans-Golgi network and the vacuole/lysosome
    • Hirst, J., Lui, W. W., Bright, N. A., Totty, N., Seaman, M. N., and Robinson, M. S., 2000, A family of proteins with gamma-adaptin and VHS domains that facilitate trafficking between the trans-Golgi network and the vacuole/lysosome, J. Cell Biol. 149:67.
    • (2000) J. Cell Biol. , vol.149 , pp. 67
    • Hirst, J.1    Lui, W.W.2    Bright, N.A.3    Totty, N.4    Seaman, M.N.5    Robinson, M.S.6
  • 14
    • 0028125849 scopus 로고
    • Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lyso-somal storage diseases
    • Imaizumi, M., Gushi, K., Kurobane, I., Inoue, S., Suzuki, J., Koizumi, Y., Suzuki, H., Sato, A., Gotoh, Y., Haginoya, K., et al., 1994, Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lyso-somal storage diseases, Acta. Paediatr. Jpn. 36:30.
    • (1994) Acta. Paediatr. Jpn. , vol.36 , pp. 30
    • Imaizumi, M.1    Gushi, K.2    Kurobane, I.3    Inoue, S.4    Suzuki, J.5    Koizumi, Y.6    Suzuki, H.7    Sato, A.8    Gotoh, Y.9    Haginoya, K.10
  • 15
    • 0000820864 scopus 로고    scopus 로고
    • I-cell disease and pseudo-hurler polydystrophy: Disorders of lysosomal phosphorylation and localisation
    • Chapter 79 McGraw-Hill, New York
    • Kornfeld, S., and Sly, W. S., 1999, I-cell disease and pseudo-hurler polydystrophy: disorders of lysosomal phosphorylation and localisation, In Metabolic Basis of Inherited Diseases. Chapter 79 (McGraw-Hill, New York) pp. 2495-2508.
    • (1999) Metabolic Basis of Inherited Diseases , pp. 2495-2508
    • Kornfeld, S.1    Sly, W.S.2
  • 16
    • 0032731195 scopus 로고    scopus 로고
    • Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
    • Kornfeld, R., Bao, M., Brewer, K., Noll, C., and Canfield, W., 1999, Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase, J. Biol. Chem. 274:32778.
    • (1999) J. Biol. Chem. , vol.274 , pp. 32778
    • Kornfeld, R.1    Bao, M.2    Brewer, K.3    Noll, C.4    Canfield, W.5
  • 18
    • 0000314910 scopus 로고
    • Mutant enzymatic and cytological phenotypes in cultured human fibroblasts
    • Leroy, J. G., and De Mars, R. I., 1967, Mutant enzymatic and cytological phenotypes in cultured human fibroblasts, Science. 157:804.
    • (1967) Science. , vol.157 , pp. 804
    • Leroy, J.G.1    De Mars, R.I.2
  • 19
    • 0022572318 scopus 로고
    • Heterogeneity of N-acetyylglucosamine 1-phosphotransferase within mucolipidosis III
    • Little, L. E., Mueller, O. T., Honey, N. K., Shows, T. B., and Miller, A. L., 1986, Heterogeneity of N-acetyylglucosamine 1-phosphotransferase within mucolipidosis III, J. Biol. Chem. 261:733.
    • (1986) J. Biol. Chem. , vol.261 , pp. 733
    • Little, L.E.1    Mueller, O.T.2    Honey, N.K.3    Shows, T.B.4    Miller, A.L.5
  • 20
    • 0014028255 scopus 로고
    • La pseudo-polydystrophie de Hurler
    • Maroteaux, P., and Lamy, M., 1966, La pseudo-polydystrophie de Hurler, Presse Med. 74:2889.
    • (1966) Presse Med. , vol.74 , pp. 2889
    • Maroteaux, P.1    Lamy, M.2
  • 26
    • 0035166947 scopus 로고    scopus 로고
    • Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network
    • Rohrer, J., and Kornfeld, R., 2001, Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network, Mol. Biol. Cell. 12:1623.
    • (2001) Mol. Biol. Cell. , vol.12 , pp. 1623
    • Rohrer, J.1    Kornfeld, R.2
  • 27
    • 0024597761 scopus 로고
    • Lysosomal integral membrane glycoproteins are expressed at high levels in the inclusion bodies of I-cell disease fibroblasts
    • Sandoval, I. V., Chen, J. W., Yuan, L., and August, J. T., 1989, Lysosomal integral membrane glycoproteins are expressed at high levels in the inclusion bodies of I-cell disease fibroblasts, Arch. Biochem. Biophys. 271:157.
    • (1989) Arch. Biochem. Biophys. , vol.271 , pp. 157
    • Sandoval, I.V.1    Chen, J.W.2    Yuan, L.3    August, J.T.4
  • 28
    • 0019953352 scopus 로고
    • Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants
    • Shows, T. B., Mueller, O. T., Honey, N. K., Wright, C. E., and Miller, A. L., 1982, Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants, Am. J. Med. Genet. 12:343.
    • (1982) Am. J. Med. Genet. , vol.12 , pp. 343
    • Shows, T.B.1    Mueller, O.T.2    Honey, N.K.3    Wright, C.E.4    Miller, A.L.5
  • 29
    • 0034018612 scopus 로고    scopus 로고
    • The missing link in lysosomal enzyme targeting
    • Sly, W. S., 2000, The missing link in lysosomal enzyme targeting, J. Clin. Invest. 105:563.
    • (2000) J. Clin. Invest. , vol.105 , pp. 563
    • Sly, W.S.1
  • 30
    • 0014716309 scopus 로고
    • The genetic mucolipidoses: Diagnosis and differential diagnosis
    • Spranger, J. W., and Wiedemann, H. R., 1970, The genetic mucolipidoses: Diagnosis and differential diagnosis, Humangenetik. 9:113.
    • (1970) Humangenetik. , vol.9 , pp. 113
    • Spranger, J.W.1    Wiedemann, H.R.2
  • 31
    • 12944335172 scopus 로고    scopus 로고
    • A splicing mutation in the alpha/beta GlcNAc-1-phospho-transferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy
    • Steet, R. A., Hullin, R., Kudo, M., Martinelli, M., Bosshard, N. U., Schaffner, T., Kornfeld, S., and Steinmann, B., 2005, A splicing mutation in the alpha/beta GlcNAc-1-phospho-transferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy, Am. J. Med. Genet. 132:369.
    • (2005) Am. J. Med. Genet. , vol.132 , pp. 369
    • Steet, R.A.1    Hullin, R.2    Kudo, M.3    Martinelli, M.4    Bosshard, N.U.5    Schaffner, T.6    Kornfeld, S.7    Steinmann, B.8
  • 32
    • 0015697846 scopus 로고
    • Mucolipi-dosis 3 (pseudo-Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells
    • Taylor, H. A., Thomas, G. H., Miller, C. S., Kelly, T. E., and Siggers, D., 1973, Mucolipi-dosis 3 (pseudo-Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells, Clin. Genet. 4:388.
    • (1973) Clin. Genet. , vol.4 , pp. 388
    • Taylor, H.A.1    Thomas, G.H.2    Miller, C.S.3    Kelly, T.E.4    Siggers, D.5
  • 33
    • 0019786595 scopus 로고
    • Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): A catalytically active N-acetylglucos-aminylphosphotransferase that fails to phosphorylate lysosomal enzymes
    • Varki, A. P., Reitman, M. L., and Kornfeld, S., 1981, Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): A catalytically active N-acetylglucos-aminylphosphotransferase that fails to phosphorylate lysosomal enzymes, Proc. Natl. Acad. Sci. U S A. 78:7773.
    • (1981) Proc. Natl. Acad. Sci. U S A , vol.78 , pp. 7773
    • Varki, A.P.1    Reitman, M.L.2    Kornfeld, S.3
  • 34
    • 84920184705 scopus 로고
    • Complementation analysis of the mucolipidoses demonstrates genetic heterogeneity
    • Wright, C. E., Miller, A. L., and Shows, T. B., 1979, Complementation analysis of the mucolipidoses demonstrates genetic heterogeneity, Am. J. Hum. Genet. 31:66A.
    • (1979) Am. J. Hum. Genet. , vol.31 , pp. 66A
    • Wright, C.E.1    Miller, A.L.2    Shows, T.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.