-
1
-
-
79954577494
-
Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes
-
Boonen, M., van Meel, E., Oorschot, V., Klumperman, J. and Kornfeld, S. (2011). Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. Mol. Biol. Cell 22, 1135-1147.
-
(2011)
Mol. Biol. Cell
, vol.22
, pp. 1135-1147
-
-
Boonen, M.1
Van Meel, E.2
Oorschot, V.3
Klumperman, J.4
Kornfeld, S.5
-
2
-
-
74549181146
-
Phenotype and genotype in mucolipidoses II and III alpha/beta: A study of 61 probands
-
Cathey, S. S., Leroy, J. G., Wood, T., Eaves, K., Simensen, R. J., Kudo, M., Stevenson, R. E. and Friez, M. J. (2010). Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J. Med. Genet. 47, 38-48.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 38-48
-
-
Cathey, S.S.1
Leroy, J.G.2
Wood, T.3
Eaves, K.4
Simensen, R.J.5
Kudo, M.6
Stevenson, R.E.7
Friez, M.J.8
-
3
-
-
33750401866
-
Global analysis of hematopoietic and vascular endothelial gene expression by tissue specific microarray profiling in zebrafish
-
DOI 10.1016/j.ydbio.2006.08.020, PII S0012160606010906
-
Covassin, L., Amigo, J. D., Suzuki, K., Teplyuk, V., Straubhaar, J. and Lawson, N. D. (2006). Global analysis of hematopoietic and vascular endothelial gene expression by tissue specific microarray profiling in zebrafish. Dev. Biol. 299, 551-562. (Pubitemid 44637277)
-
(2006)
Developmental Biology
, vol.299
, Issue.2
, pp. 551-562
-
-
Covassin, L.1
Amigo, J.D.2
Suzuki, K.3
Teplyuk, V.4
Straubhaar, J.5
Lawson, N.D.6
-
4
-
-
0035109071
-
Human osteoclast cathepsin K is processed intracellularly prior to attachment and bone resorption
-
Dodds, R. A., James, I. E., Rieman, D., Ahern, R., Hwang, S. M., Connor, J. R., Thompson, S. D., Veber, D. F., Drake, F. H., Holmes, S. et al. (2001). Human osteoclast cathepsin K is processed intracellularly prior to attachment and bone resorption. J. Bone Miner. Res. 16, 478-486. (Pubitemid 32173362)
-
(2001)
Journal of Bone and Mineral Research
, vol.16
, Issue.3
, pp. 478-486
-
-
Dodds, R.A.1
James, I.A.2
Rieman, D.3
Ahern, R.4
Hwang, S.M.5
Connor, J.R.6
Thompson, S.D.7
Veber, D.F.8
Drake, F.H.9
Holmes, S.10
Lark, M.W.11
Gowen, M.12
-
5
-
-
0037062449
-
Neuronal loss and brain atrophy in mice lacking cathepsins B and L
-
DOI 10.1073/pnas.112632299
-
Felbor, U., Kessler, B., Mothes, W., Goebel, H. H., Ploegh, H. L., Bronson, R. T. and Olsen, B. R. (2002). Neuronal loss and brain atrophy in mice lacking cathepsins B and L. Proc. Natl. Acad. Sci. USA 99, 7883-7888. (Pubitemid 34650974)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.12
, pp. 7883-7888
-
-
Felbor, U.1
Kessler, B.2
Mothes, W.3
Goebel, H.H.4
Ploegh, H.L.5
Bronson, R.T.6
Olsen, B.R.7
-
6
-
-
73649091413
-
Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II
-
Flanagan-Steet, H., Sias, C. and Steet, R. (2009). Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II. Am. J. Pathol. 175, 2063-2075.
-
(2009)
Am. J. Pathol.
, vol.175
, pp. 2063-2075
-
-
Flanagan-Steet, H.1
Sias, C.2
Steet, R.3
-
7
-
-
38449099687
-
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions
-
DOI 10.1167/iovs.07-0452
-
Gelfman, C. M., Vogel, P., Issa, T. M., Turner, C. A., Lee, W. S., Kornfeld, S. and Rice, D. S. (2007). Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions. Invest. Ophthalmol. Vis. Sci. 48, 5221-5228. (Pubitemid 351260935)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.11
, pp. 5221-5228
-
-
Gelfman, C.M.1
Vogel, P.2
Issa, T.M.3
Turner, C.A.4
Lee, W.-S.5
Kornfeld, S.6
Rice, D.S.7
-
8
-
-
0037336348
-
Mannose 6-phosphate receptors: New twists in the tale
-
DOI 10.1038/nrm1050
-
Ghosh, P., Dahms, N. M. and Kornfeld, S. (2003). Mannose 6-phosphate receptors: new twists in the tale. Nat. Rev. Mol. Cell. Biol. 4, 202-212. (Pubitemid 36288042)
-
(2003)
Nature Reviews Molecular Cell Biology
, vol.4
, Issue.3
, pp. 202-212
-
-
Ghosh, P.1
Dahms, N.M.2
Kornfeld, S.3
-
9
-
-
30144440623
-
The control of chondrogenesis
-
DOI 10.1002/jcb.20652
-
Goldring, M. B., Tsuchimochi, K. and Ijiri, K. (2006). The control of chondrogenesis. J. Cell Biochem. 97, 33-44. (Pubitemid 43050970)
-
(2006)
Journal of Cellular Biochemistry
, vol.97
, Issue.1
, pp. 33-44
-
-
Goldring, M.B.1
Tsuchimochi, K.2
Ijiri, K.3
-
10
-
-
33947588765
-
Animal models for mucopolysaccharidosis disorders and their clinical relevance
-
Haskins, M. E. (2007). Animal models for mucopolysaccharidosis disorders and their clinical relevance. Acta Paediatr. 96 Suppl., 56-62.
-
(2007)
Acta Paediatr.
, vol.96
, Issue.SUPPL.
, pp. 56-62
-
-
Haskins, M.E.1
-
11
-
-
0030227147
-
Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body
-
Herman, T. E. and McAlister, W. H. (1996). Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body. J. Perinatol. 16, 400- 402.
-
(1996)
J. Perinatol.
, vol.16
, pp. 400-402
-
-
Herman, T.E.1
McAlister, W.H.2
-
12
-
-
33646557000
-
Aspects of extracellular matrix remodeling in development and disease
-
DOI 10.1002/bdrc.20064
-
Holmbeck, K. and Szabova, L. (2006). Aspects of extracellular matrix remodeling in development and disease. Birth Defects Res. C Embryo Today 78, 11-23. (Pubitemid 43726173)
-
(2006)
Birth Defects Research Part C - Embryo Today: Reviews
, vol.78
, Issue.1
, pp. 11-23
-
-
Holmbeck, K.1
Szabova, L.2
-
13
-
-
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, 435-441. (Pubitemid 126457152)
-
(1996)
Journal of Small Animal Practice
, vol.37
, Issue.9
, pp. 435-441
-
-
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
-
14
-
-
0032080113
-
Human cathepsin K cleaves native type I and II collagens at the N-terminal end of the triple helix
-
Kafienah, W., Bromme, D., Buttle, D. J., Croucher, L. J. and Hollander, A. P. (1998). Human cathepsin K cleaves native type I and II collagens at the N-terminal end of the triple helix. Biochem. J. 331, 727-732.
-
(1998)
Biochem. J.
, vol.331
, pp. 727-732
-
-
Kafienah, W.1
Bromme, D.2
Buttle, D.J.3
Croucher, L.J.4
Hollander, A.P.5
-
15
-
-
0029045033
-
Stages of embryonic development of the zebrafish
-
Kimmel, C. B., Ballard, W. W., Kimmel, S. R., Ullmann, B. and Schilling, T. F. (1995). Stages of embryonic development of the zebrafish. Dev. Dyn. 203, 253-310.
-
(1995)
Dev. Dyn.
, vol.203
, pp. 253-310
-
-
Kimmel, C.B.1
Ballard, W.W.2
Kimmel, S.R.3
Ullmann, B.4
Schilling, T.F.5
-
17
-
-
73649118123
-
Mannose phosphorylation in health and disease
-
Kollmann, K., Pohl, S., Marschner, K., Encarnacao, M., Sakwa, I., Tiede, S., Poorthuis, B. J., Lubke, T., Muller-Loennies, S., Storch, S. et al. (2010). Mannose phosphorylation in health and disease. Eur. J. Cell Biol. 89, 117-123.
-
(2010)
Eur. J. Cell Biol.
, vol.89
, pp. 117-123
-
-
Kollmann, K.1
Pohl, S.2
Marschner, K.3
Encarnacao, M.4
Sakwa, I.5
Tiede, S.6
Poorthuis, B.J.7
Lubke, T.8
Muller-Loennies, S.9
Storch, S.10
-
18
-
-
0022572229
-
Trafficking of lysosomal enzymes in normal and disease states
-
Kornfeld, S. (1986). Trafficking of lysosomal enzymes in normal and disease states. J. Clin. Invest. 77, 1-6.
-
(1986)
J. Clin. Invest.
, vol.77
, pp. 1-6
-
-
Kornfeld, S.1
-
19
-
-
0036039827
-
In vivo imaging of embryonic vascular development using transgenic zebrafish
-
DOI 10.1006/dbio.2002.0711
-
Lawson, N. D. and Weinstein, B. M. (2002). In vivo imaging of embryonic vascular development using transgenic zebrafish. Dev. Biol. 248, 307-318. (Pubitemid 35002091)
-
(2002)
Developmental Biology
, vol.248
, Issue.2
, pp. 307-318
-
-
Lawson, N.D.1
Weinstein, B.M.2
-
20
-
-
0142169545
-
Probing cathepsin K activity with a selective substrate spanning its active site
-
DOI 10.1042/BJ20030468
-
Lecaille, F., Weidauer, E., Juliano, M. A., Bromme, D. and Lalmanach, G. (2003). Probing cathepsin K activity with a selective substrate spanning its active site. Biochem. J. 375, 307-312. (Pubitemid 37315438)
-
(2003)
Biochemical Journal
, vol.375
, Issue.2
, pp. 307-312
-
-
Lecaille, F.1
Weidauer, E.2
Juliano, M.A.3
Bromme, D.4
Lalmanach, G.5
-
21
-
-
33745102721
-
Hearts and bones: Shared regulatory mechanisms in heart valve, cartilage, tendon, and bone development
-
DOI 10.1016/j.ydbio.2006.03.027, PII S0012160606002259
-
Lincoln, J., Lange, A. W. and Yutzey, K. E. (2006). Hearts and bones: shared regulatory mechanisms in heart valve, cartilage, tendon, and bone development. Dev. Biol. 294, 292-302. (Pubitemid 43884820)
-
(2006)
Developmental Biology
, vol.294
, Issue.2
, pp. 292-302
-
-
Lincoln, J.1
Lange, A.W.2
Yutzey, K.E.3
-
22
-
-
44649182096
-
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice
-
Ma, X., Tittiger, M., Knutsen, R. H., Kovacs, A., Schaller, L., Mecham, R. P. and Ponder, K. P. (2008). Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. Mol. Genet. Metab. 94, 298-304.
-
(2008)
Mol. Genet. Metab.
, vol.94
, pp. 298-304
-
-
Ma, X.1
Tittiger, M.2
Knutsen, R.H.3
Kovacs, A.4
Schaller, L.5
Mecham, R.P.6
Ponder, K.P.7
-
23
-
-
17944403442
-
Autocatalytic activation of human cathepsin K
-
DOI 10.1074/jbc.272.21.13955
-
McQueney, M. S., Amegadzie, B. Y., D'Alessio, K., Hanning, C. R., McLaughlin, M. M., McNulty, D., Carr, S. A., Ijames, C., Kurdyla, J. and Jones, C. S. (1997). Autocatalytic activation of human cathepsin K. J. Biol. Chem. 272, 13955-13960. (Pubitemid 27224840)
-
(1997)
Journal of Biological Chemistry
, vol.272
, Issue.21
, pp. 13955-13960
-
-
McQueney, M.S.1
Amegadzie, B.Y.2
D'Alessio, K.3
Hanning, C.R.4
McLaughlin, M.M.5
McNulty, D.6
Carr, S.A.7
Ijames, C.8
Kurdyla, J.9
Jones, C.S.10
-
24
-
-
67349168769
-
Mechanism of shortened bones in mucopolysaccharidosis VII
-
Metcalf, J. A., Zhang, Y., Hilton, M. J., Long, F. and Ponder, K. P. (2009). Mechanism of shortened bones in mucopolysaccharidosis VII. Mol. Genet. Metab. 97, 202-211.
-
(2009)
Mol. Genet. Metab.
, vol.97
, pp. 202-211
-
-
Metcalf, J.A.1
Zhang, Y.2
Hilton, M.J.3
Long, F.4
Ponder, K.P.5
-
25
-
-
77649338053
-
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression
-
Metcalf, J. A., Linders, B., Wu, S., Bigg, P., O'Donnell, P., Sleeper, M. M., Whyte, M. P., Haskins, M. and Ponder, K. P. (2010). Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol. Genet. Metab. 99, 396-407.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 396-407
-
-
Metcalf, J.A.1
Linders, B.2
Wu, S.3
Bigg, P.4
O'Donnell, P.5
Sleeper, M.M.6
Whyte, M.P.7
Haskins, M.8
Ponder, K.P.9
-
26
-
-
73649086537
-
A novel functional role of iduronate-2-sulfatase in zebrafish early development
-
Moro, E., Tomanin, R., Friso, A., Modena, N., Tiso, N., Scarpa, M. and Argenton, F. (2010). A novel functional role of iduronate-2-sulfatase in zebrafish early development. Matrix Biol. 29, 43-50.
-
(2010)
Matrix Biol.
, vol.29
, pp. 43-50
-
-
Moro, E.1
Tomanin, R.2
Friso, A.3
Modena, N.4
Tiso, N.5
Scarpa, M.6
Argenton, F.7
-
27
-
-
47749097124
-
Regulation of glycan structures in animal tissues: Transcript profiling of glycan-related genes
-
Nairn, A. V., York, W. S., Harris, K., Hall, E. M., Pierce, J. M. and Moremen, K. W. (2008). Regulation of glycan structures in animal tissues: transcript profiling of glycan-related genes. J. Biol. Chem. 283, 17298-17313.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 17298-17313
-
-
Nairn, A.V.1
York, W.S.2
Harris, K.3
Hall, E.M.4
Pierce, J.M.5
Moremen, K.W.6
-
28
-
-
77956224347
-
Transcript analysis of stem cells
-
Nairn, A. V., dela Rosa, M. and Moremen, K. W. (2010). Transcript analysis of stem cells. Methods Enzymol. 479, 73-91.
-
(2010)
Methods Enzymol.
, vol.479
, pp. 73-91
-
-
Nairn, A.V.1
Dela Rosa, M.2
Moremen, K.W.3
-
29
-
-
0024323967
-
Activation of matrix metalloproteinase 3 (stromelysin) and matrix metalloproteinase 2 ('gelatinase') by human neutrophil elastase and cathepsin G
-
DOI 10.1016/0014-5793(89)80657-X
-
Okada, Y. and Nakanishi, I. (1989). Activation of matrix metalloproteinase 3 (stromelysin) and matrix metalloproteinase 2 (gelatinase) by human neutrophil elastase and cathepsin G. FEBS Lett. 249, 353-356. (Pubitemid 19143491)
-
(1989)
FEBS Letters
, vol.249
, Issue.2
, pp. 353-356
-
-
Okada, Y.1
Nakanishi, I.2
-
30
-
-
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. et al. (2000). Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J. Clin. Invest. 105, 673-681. (Pubitemid 30146514)
-
(2000)
Journal of Clinical Investigation
, vol.105
, Issue.5
, pp. 673-681
-
-
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
-
31
-
-
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. et al. (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
-
-
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
-
32
-
-
77957855881
-
Specialized roles for cysteine cathepsins in health and disease
-
Reiser, J., Adair, B. and Reinheckel, T. (2010). Specialized roles for cysteine cathepsins in health and disease. J. Clin. Invest. 120, 3421-3431.
-
(2010)
J. Clin. Invest.
, vol.120
, pp. 3421-3431
-
-
Reiser, J.1
Adair, B.2
Reinheckel, T.3
-
33
-
-
0019420191
-
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: Glycoprotein N-acetylglucosaminylphosphotransferase activity
-
Reitman, M. L., Varki, A. and Kornfeld, S. (1981). Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-Nacetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J. Clin. Invest. 67, 1574-1579. (Pubitemid 11099375)
-
(1981)
Journal of Clinical Investigation
, vol.67
, Issue.5
, pp. 1574-1579
-
-
Reitman, M.L.1
Varki, A.2
Kornfeld, S.3
-
34
-
-
0035127395
-
Biosynthesis and processing of cathepsin K in cultured human osteoclasts
-
DOI 10.1016/S8756-3282(00)00445-2, PII S8756328200004452
-
Rieman, D. J., McClung, H. A., Dodds, R. A., Hwang, S. M., Holmes, M. W., James, I. E., Drake, F. H. and Gowen, M. (2001). Biosynthesis and processing of cathepsin K in cultured human osteoclasts. Bone 28, 282-289. (Pubitemid 32192952)
-
(2001)
Bone
, vol.28
, Issue.3
, pp. 282-289
-
-
Rieman, D.J.1
McClung, H.A.2
Dodds, R.A.3
Hwang, S.M.4
Holmes, M.W.L.5
James, I.E.6
Drake, F.H.7
Gowen, M.8
-
35
-
-
74849083093
-
Lysosomal enhancement: A CLEAR answer to cellular degradative needs
-
Sardiello, M. and Ballabio, A. (2009). Lysosomal enhancement: a CLEAR answer to cellular degradative needs. Cell Cycle 8, 4021-4022.
-
(2009)
Cell Cycle
, vol.8
, pp. 4021-4022
-
-
Sardiello, M.1
Ballabio, A.2
-
36
-
-
67749122634
-
A gene network regulating lysosomal biogenesis and function
-
Sardiello, M., Palmieri, M., di Ronza, A., Medina, D. L., Valenza, M., Gennarino, V. A., Di Malta, C., Donaudy, F., Embrione, V., Polishchuk, R. S. et al. (2009). A gene network regulating lysosomal biogenesis and function. Science 325, 473-477.
-
(2009)
Science
, vol.325
, pp. 473-477
-
-
Sardiello, M.1
Palmieri, M.2
Di Ronza, A.3
Medina, D.L.4
Valenza, M.5
Gennarino, V.A.6
Di Malta, C.7
Donaudy, F.8
Embrione, V.9
Polishchuk, R.S.10
-
37
-
-
34447509225
-
Selective inhibition of the collagenase activity of cathepsin K
-
DOI 10.1074/jbc.M700242200
-
Selent, J., Kaleta, J., Li, Z., Lalmanach, G. and Bromme, D. (2007). Selective inhibition of the collagenase activity of cathepsin K. J. Biol. Chem. 282, 16492-16501. (Pubitemid 47100365)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.22
, pp. 16492-16501
-
-
Selent, J.1
Kaleta, J.2
Li, Z.3
Lalmanach, G.4
Bromme, D.5
-
38
-
-
17744378748
-
Joint and bone disease in mucopolysaccharidoses VI and VII: Identification of new therapeutic targets and BioMarkers using animal models
-
DOI 10.1203/01.PDR.0000156510.96253.5A
-
Simonaro, C. M., D'Angelo, M., Haskins, M. E. and Schuchman, E. H. (2005). Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr. Res. 57, 701-707. (Pubitemid 40578042)
-
(2005)
Pediatric Research
, vol.57
, Issue.5 I
, pp. 701-707
-
-
Simonaro, C.M.1
D'Angelo, M.2
Haskins, M.E.3
Schuchman, E.H.4
-
39
-
-
38749093729
-
Mechanism of glycosaminoglycan-mediated bone and joint disease: Implications for the mucopolysaccharidoses and other connective tissue diseases
-
DOI 10.2353/ajpath.2008.070564
-
Simonaro, C. M., D'Angelo, M., He, X., Eliyahu, E., Shtraizent, N., Haskins, M. E. and Schuchman, E. H. (2008). Mechanism of glycosaminoglycan- mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am. J. Pathol. 172, 112-122. (Pubitemid 351186373)
-
(2008)
American Journal of Pathology
, vol.172
, Issue.1
, 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
-
40
-
-
37549072689
-
Cell type-specific functions of the lysosomal protease cathepsin L in the heart
-
Spira, D., Stypmann, J., Tobin, D. J., Petermann, I., Mayer, C., Hagemann, S., Vasiljeva, O., Gunther, T., Schule, R., Peters, C. et al. (2007). Cell type-specific functions of the lysosomal protease cathepsin L in the heart. J. Biol. Chem. 282, 37045-37052.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 37045-37052
-
-
Spira, D.1
Stypmann, J.2
Tobin, D.J.3
Petermann, I.4
Mayer, C.5
Hagemann, S.6
Vasiljeva, O.7
Gunther, T.8
Schule, R.9
Peters, C.10
-
41
-
-
0018089285
-
Neonatal presentation of I-cell disease
-
Sprigz, R. A., Doughty, R. A., Spackman, T. J., Murane, M. J., Coates, P. M., Koldovsky, O. and Zackai, E. H. (1978). Neonatal presentation of I-cell disease. J. Pediatr. 93, 954-958. (Pubitemid 9018749)
-
(1978)
Journal of Pediatrics
, vol.93
, Issue.6
, pp. 954-958
-
-
Spritz, R.A.1
Doughty, R.A.2
Spackman, T.J.3
-
42
-
-
22144448236
-
Identification of novel vascular endothelial-specific genes by the microarray analysis of the zebrafish cloche mutants
-
DOI 10.1182/blood-2004-12-4653
-
Sumanas, S., Jorniak, T. and Lin, S. (2005). Identification of novel vascular endothelialspecific genes by the microarray analysis of the zebrafish cloche mutants. Blood 106, 534-541. (Pubitemid 40981248)
-
(2005)
Blood
, vol.106
, Issue.2
, pp. 534-541
-
-
Sumanas, S.1
Jorniak, T.2
Lin, S.3
-
43
-
-
27144550841
-
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase
-
Tiede, S., Storch, S., Lubke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A. and Braulke, T. (2005). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat. Med. 11, 1109-1112.
-
(2005)
Nat. Med.
, vol.11
, pp. 1109-1112
-
-
Tiede, S.1
Storch, S.2
Lubke, T.3
Henrissat, B.4
Bargal, R.5
Raas-Rothschild, A.6
Braulke, T.7
-
44
-
-
79958765396
-
Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesis
-
van Meel, E., Boonen, M., Zhao, H., Oorschot, V., Ross, F. P., Kornfeld, S. and Klumperman, J. (2011). Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesis. Traffic 12, 912-924.
-
(2011)
Traffic
, vol.12
, pp. 912-924
-
-
Van Meel, E.1
Boonen, M.2
Zhao, H.3
Oorschot, V.4
Ross, F.P.5
Kornfeld, S.6
Klumperman, J.7
-
45
-
-
67651043237
-
Comparative pathology of murine mucolipidosis types II and IIIC
-
Vogel, P., Payne, B. J., Read, R., Lee, W. S., Gelfman, C. M. and Kornfeld, S. (2009). Comparative pathology of murine mucolipidosis types II and IIIC. Vet. Pathol. 46, 313-324.
-
(2009)
Vet. Pathol.
, vol.46
, pp. 313-324
-
-
Vogel, P.1
Payne, B.J.2
Read, R.3
Lee, W.S.4
Gelfman, C.M.5
Kornfeld, S.6
-
46
-
-
0035188902
-
Features of mono- and multinucleated bone resorbing cells of the zebrafish Danio rerio and their contribution to skeletal development, remodeling, and growth
-
DOI 10.1002/jmor.1065
-
Witten, P. E., Hansen, A. and Hall, B. K. (2001). Features of mono- and multinucleated bone resorbing cells of the zebrafish Danio rerio and their contribution to skeletal development, remodeling, and growth. J. Morphol. 250, 197-207. (Pubitemid 33087222)
-
(2001)
Journal of Morphology
, vol.250
, Issue.3
, pp. 197-207
-
-
Witten, P.E.1
Hansen, A.2
Hall, B.K.3
-
47
-
-
18944365919
-
The role of cathepsins in osteoporosis and arthritis: Rationale for the design of new therapeutics
-
DOI 10.1016/j.addr.2004.12.013, PII S0169409X05000773, Targeted Drug Delivery for Musculoskeletal Diseases
-
Yasuda, Y., Kaleta, J. and Bromme, D. (2005). The role of cathepsins in osteoporosis and arthritis: rationale for the design of new therapeutics. Adv. Drug Deliv. Rev. 57, 973-993. (Pubitemid 40703885)
-
(2005)
Advanced Drug Delivery Reviews
, vol.57
, Issue.7
, pp. 973-993
-
-
Yasuda, Y.1
Kaleta, J.2
Bromme, D.3
|