-
1
-
-
0029958044
-
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
-
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
-
3
-
-
0029681136
-
Spontaneous mucolipidosis in a cat: An animal model of human I-cell disease
-
Bosshard, N. U., Hubler, M., Arnold, S., Briner, J., Spycher, M. A., Sommerlade, H. J., von Figura, K., and Gitzelmann, R., 1996, Spontaneous mucolipidosis in a cat: An animal model of human I-cell disease, Vet. Pathol. 33:1.
-
(1996)
Vet. Pathol.
, vol.33
, pp. 1
-
-
Bosshard, N.U.1
Hubler, M.2
Arnold, S.3
Briner, J.4
Spycher, M.A.5
Sommerlade, H.J.6
Von Figura, K.7
Gitzelmann, R.8
-
4
-
-
0021143096
-
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
-
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
-
6
-
-
0033923370
-
Lysosome-related organelles
-
Dell'Angelica, E. C., Mullins, C., Caplans, S., and Bonifacino, J. S., 2000, Lysosome-related organelles, FASEB J. 14:1265.
-
(2000)
FASEB J.
, vol.14
, pp. 1265
-
-
Dell'Angelica, E.C.1
Mullins, C.2
Caplans, S.3
Bonifacino, J.S.4
-
7
-
-
0032214329
-
I-cell disease-like phenotype in mice deficient in mannose 6-phosphate receptors
-
Dittmer, F., Hafner, A., Ulbrich, E. J., Moritz, J. D., Schmidt, P., Schmahl, W., Pohlmann, R., and von Figura, K., 1998, I-cell disease-like phenotype in mice deficient in mannose 6-phosphate receptors, Transgenic. Res. 7:473.
-
(1998)
Transgenic. Res.
, vol.7
, pp. 473
-
-
Dittmer, F.1
Hafner, A.2
Ulbrich, E.J.3
Moritz, J.D.4
Schmidt, P.5
Schmahl, W.6
Pohlmann, R.7
Von Figura, K.8
-
8
-
-
0242468169
-
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
-
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
-
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
-
11
-
-
0020356047
-
Mucoli-pidosis III is genetically heterogeneous
-
Honey, N. K., Mueller, O. T., Little, L. E., Miller, A. L., and Shows, T. B., 1982, Mucoli-pidosis III is genetically heterogeneous, Proc. Natl. Acad. Sci. U S A. 79:7420.
-
(1982)
Proc. Natl. Acad. Sci. U S A.
, vol.79
, pp. 7420
-
-
Honey, N.K.1
Mueller, O.T.2
Little, L.E.3
Miller, A.L.4
Shows, T.B.5
-
12
-
-
0030225915
-
Mucolipidosis type II in a domestic shorthair cat
-
Hubler, M., Haskins, M. E., Arnold, S., Kaser-Hotz, B., Bosshard, N. U., Briner, J., Spycher, M. A., Gitzelmann, R., Sommerlade, H. J., and von Figura, K., 1996, Mucolipidosis type II in a domestic shorthair cat, J. Small Anim. Pract. 37:435.
-
(1996)
J. Small Anim. Pract.
, vol.37
, pp. 435
-
-
Hubler, M.1
Haskins, M.E.2
Arnold, S.3
Kaser-Hotz, B.4
Bosshard, N.U.5
Briner, J.6
Spycher, M.A.7
Gitzelmann, R.8
Sommerlade, H.J.9
Von Figura, K.10
-
13
-
-
0028537895
-
Diagnosis of I-cell disease
-
Hwu, W. L., Chuang, S. C., Wang, W. C., and Wang, T. R., 1994, Diagnosis of I-cell disease, Zhonghua. Min. Guo. Xiao. Er. Ke. Yi. Xue. Hui. Za. Zhi. 35:508.
-
(1994)
Zhonghua. Min. Guo. Xiao. Er. Ke. Yi. Xue. Hui. Za. Zhi.
, vol.35
, pp. 508
-
-
Hwu, W.L.1
Chuang, S.C.2
Wang, W.C.3
Wang, T.R.4
-
14
-
-
0028125849
-
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
-
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
-
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
-
17
-
-
0022993914
-
Biochemical improvement after treatment by bone marrow transplantation in I-cell disease
-
Kurobane, I., Inoue, S., Gotoh, Y., Kato, S., Tamura, M., Narisawa, K., and Tada, K., 1986, Biochemical improvement after treatment by bone marrow transplantation in I-cell disease, Tohoku J. Exp. Med. 150:63.
-
(1986)
Tohoku J. Exp. Med.
, vol.150
, pp. 63
-
-
Kurobane, I.1
Inoue, S.2
Gotoh, Y.3
Kato, S.4
Tamura, M.5
Narisawa, K.6
Tada, K.7
-
18
-
-
0000314910
-
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
-
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
-
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
-
21
-
-
10744232360
-
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: The first animal model of human I-cell disease
-
Mazrier, H., Van Hoeven, M., Wang, P., Knox, V. W., Aguirre, G. D., Holt, E., Wiemelt, S. P., Sleeper, M. M., Hubler, M., Haskins, M. E., and Giger, U., 2003, Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: The first animal model of human I-cell disease, J. Hered. 94:363.
-
(2003)
J. Hered.
, vol.94
, pp. 363
-
-
Mazrier, H.1
Van Hoeven, M.2
Wang, P.3
Knox, V.W.4
Aguirre, G.D.5
Holt, E.6
Wiemelt, S.P.7
Sleeper, M.M.8
Hubler, M.9
Haskins, M.E.10
Giger, U.11
-
22
-
-
0030797123
-
Diagnosis of lysosomal storage disorders: Evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker
-
Meikle, P. J., Brooks, D. A., Ravenscroft, E. M., Yan, M., Williams, R. E., Jaunzems, A. E., Chataway, T. K., Karageorgos, L. E., Davey, R. C., Boulter, C. D., Carlsson, S. R., and Hopwood, JJ., 1997, Diagnosis of lysosomal storage disorders: Evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker, Clin. Chem. 43:1325.
-
(1997)
Clin. Chem.
, vol.43
, pp. 1325
-
-
Meikle, P.J.1
Brooks, D.A.2
Ravenscroft, E.M.3
Yan, M.4
Williams, R.E.5
Jaunzems, A.E.6
Chataway, T.K.7
Karageorgos, L.E.8
Davey, R.C.9
Boulter, C.D.10
Carlsson, S.R.11
Hopwood, J.J.12
-
23
-
-
2342532417
-
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
-
Raas-Rothschild, A., Bargal, R., Goldman, O., Ben-Asher, E., Groener, J. E., Toutain, A., Stemmer, E., Ben-Neriah, Z., Flusser, H., Beemer, F. A., Penttinen, M., Olender, T., Rein, A. J., Bach, G., and Zeigler, M., 2004, Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III, J. Med. Genet. 41:e52.
-
(2004)
J. Med. Genet.
, vol.41
, pp. e52
-
-
Raas-Rothschild, A.1
Bargal, R.2
Goldman, O.3
Ben-Asher, E.4
Groener, J.E.5
Toutain, A.6
Stemmer, E.7
Ben-Neriah, Z.8
Flusser, H.9
Beemer, F.A.10
Penttinen, M.11
Olender, T.12
Rein, A.J.13
Bach, G.14
Zeigler, M.15
-
24
-
-
19244386351
-
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
-
Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B., Munnich, A., and Canfield, W. M., 2000, Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC), J. Clin. Invest. 105:673.
-
(2000)
J. Clin. Invest.
, vol.105
, pp. 673
-
-
Raas-Rothschild, A.1
Cormier-Daire, V.2
Bao, M.3
Genin, E.4
Salomon, R.5
Brewer, K.6
Zeigler, M.7
Mandel, H.8
Toth, S.9
Roe, B.10
Munnich, A.11
Canfield, W.M.12
-
25
-
-
0036977465
-
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment
-
Robinson, C., Baker, N., Noble, J., King, A., David, G., Sillence, D., Hofman, P., and Cundy, T., 2002, The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment, J. Inherit. Metab. Dis. 25:681.
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 681
-
-
Robinson, C.1
Baker, N.2
Noble, J.3
King, A.4
David, G.5
Sillence, D.6
Hofman, P.7
Cundy, T.8
-
26
-
-
0035166947
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|