-
1
-
-
77954225471
-
Common and uncommon pathogenic cascades in lysosomal storage diseases
-
1:CAS:528:DC%2BC3cXnvFSisLo%3D 20430897
-
Vitner, E. B., Platt, F. M., and Futerman, A. H. (2010) Common and uncommon pathogenic cascades in lysosomal storage diseases, J. Biol. Chem., 285, 20423-20427.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 20423-20427
-
-
Vitner, E.B.1
Platt, F.M.2
Futerman, A.H.3
-
2
-
-
44649182096
-
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis i mice
-
1:CAS:528:DC%2BD1cXnt1eisbg%3D 18479957
-
Ma, X., Tittiger, M., Kuntsen, R. H., Kovacs, A., Schaller, L., Mechan, 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
Kuntsen, R.H.3
Kovacs, A.4
Schaller, L.5
Mechan, R.P.6
Ponder, K.P.7
-
3
-
-
69249227502
-
Lysosomal biogenesis and lysosomal membrane proteins: Traffic meets function
-
1:CAS:528:DC%2BD1MXpsleqsrc%3D
-
Saftig, P., and Klumperman, J. (2009) Lysosomal biogenesis and lysosomal membrane proteins: traffic meets function, Nature Rev. Mol. Cell Biol., 10, 623-635.
-
(2009)
Nature Rev. Mol. Cell Biol.
, vol.10
, pp. 623-635
-
-
Saftig, P.1
Klumperman, J.2
-
4
-
-
84870730914
-
Autophagic lysosomal reformation
-
1:CAS:528:DC%2BC38XhsV2qtbfO 22999865
-
Chen, Y., and Yu, L. (2013) Autophagic lysosomal reformation, Exp. Cell Res., 319, 142-146.
-
(2013)
Exp. Cell Res.
, vol.319
, pp. 142-146
-
-
Chen, Y.1
Yu, L.2
-
5
-
-
62949241063
-
Molecular and cellular basis of lysosomal transmembrane protein dysfunction
-
1:CAS:528:DC%2BD1MXjslOlsb0%3D 19146888
-
Ruivo, R., Anne, C., Sagne, C., and Gasnier, B. (2009) Molecular and cellular basis of lysosomal transmembrane protein dysfunction, Biochim. Biophys. Acta, 1793, 636-649.
-
(2009)
Biochim. Biophys. Acta
, vol.1793
, pp. 636-649
-
-
Ruivo, R.1
Anne, C.2
Sagne, C.3
Gasnier, B.4
-
6
-
-
0024441817
-
The biogenesis of lysosomes
-
1:CAS:528:DyaK3cXhslyjsQ%3D%3D 2557062
-
Kornfeld, S., and Mellman, I. (1989) The biogenesis of lysosomes, Ann. Rev. Cell Biol., 5, 483-526.
-
(1989)
Ann. Rev. Cell Biol.
, vol.5
, pp. 483-526
-
-
Kornfeld, S.1
Mellman, I.2
-
7
-
-
0037336348
-
Mannose 6-phosphate receptors: New twists in the tale
-
1:CAS:528:DC%2BD3sXhsFajsL0%3D 12612639
-
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.
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 202-212
-
-
Ghosh, P.1
Dahms, N.M.2
Kornfeld, S.3
-
8
-
-
34548482956
-
The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/Clathrin-containing transport carriers and lysosomal enzyme sorting
-
Mardones, G., Burgos, P. V., Brooks, D. A., Parkinson-Lawrence, E., Mattera, R., and Bonkfacino, J. C. (2007) The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/Clathrin-containing transport carriers and lysosomal enzyme sorting, Mol. Biol. Cell, 18, 1486-1501.
-
(2007)
Mol. Biol. Cell
, vol.18
, pp. 1486-1501
-
-
Mardones, G.1
Burgos, P.V.2
Brooks, D.A.3
Parkinson-Lawrence, E.4
Mattera, R.5
Bonkfacino, J.C.6
-
9
-
-
79961100778
-
Lysosomal storage disorders: Molecular basis and laboratory testing
-
1:CAS:528:DC%2BC3MXnvFenurs%3D
-
Filocamo, M., and Morrone, A. (2011) Lysosomal storage disorders: molecular basis and laboratory testing, Hum. Genom., 5, 156-169.
-
(2011)
Hum. Genom.
, vol.5
, pp. 156-169
-
-
Filocamo, M.1
Morrone, A.2
-
10
-
-
0037413688
-
Cathepsin A regulates chaperone-mediated autophagy through cleavage of lysosomal receptor
-
1:CAS:528:DC%2BD3sXovFaktg%3D%3D 12505983
-
Cuervo, A. N., Mann, L., Bonten, E. J., d'Azzo, A., and Dice, J. F. (2003) Cathepsin A regulates chaperone-mediated autophagy through cleavage of lysosomal receptor, EMBO J., 22, 47-59.
-
(2003)
EMBO J.
, vol.22
, pp. 47-59
-
-
Cuervo, A.N.1
Mann, L.2
Bonten, E.J.3
D'Azzo, A.4
Dice, J.F.5
-
11
-
-
84855485547
-
Equilibrative nucleoside transporter 3 deficiency perturbs lysosomal function and macrophage homeostasis
-
1:CAS:528:DC%2BC38Xns1Gg 22174130
-
Hsu, C-L., Lin, W., Seshasayee, D., Chen, Y-H., Ding, X., Lin, Z., Suto, E., Huang, Z., Lee, W. P., Park, H., Xu, M., Sun, M., Rangell, L., Lutman, J. L., Ulufatu, S., Stefanich, E., Chalouni, C., Sagolla, M., Diehl, L., Fiedler, P., Dean, B., Balazs, M., and Martin, F. (2012) Equilibrative nucleoside transporter 3 deficiency perturbs lysosomal function and macrophage homeostasis, Science, 335, 89-92.
-
(2012)
Science
, vol.335
, pp. 89-92
-
-
Hsu, C.-L.1
Lin, W.2
Seshasayee, D.3
Chen, Y.-H.4
Ding, X.5
Lin, Z.6
Suto, E.7
Huang, Z.8
Lee, W.P.9
Park, H.10
Xu, M.11
Sun, M.12
Rangell, L.13
Lutman, J.L.14
Ulufatu, S.15
Stefanich, E.16
Chalouni, C.17
Sagolla, M.18
Diehl, L.19
Fiedler, P.20
Dean, B.21
Balazs, M.22
Martin, F.23
more..
-
12
-
-
84886675222
-
Electron microscopy as a useful tool in the diagnosis of lysosomal storage diseases
-
J. W Stirling A. Curry B. Eyden (eds)
-
Alroy, J., Pfannl, R., and Ucc, A. A. (2013) Electron microscopy as a useful tool in the diagnosis of lysosomal storage diseases, in Diagnostic Electron Microscopy: A Practical Guide to Interpretation and Technique (Stirling, J. W., Curry, A., and Eyden, B., eds.) John Wiley & Sons Ltd, pp. 237-267.
-
(2013)
Diagnostic Electron Microscopy: A Practical Guide to Interpretation and Technique
, pp. 237-267
-
-
Alroy, J.1
Pfannl, R.2
Ucc, A.A.3
-
13
-
-
0026572112
-
Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
-
1:CAS:528:DyaK38XkvVOku70%3D 1348043
-
Leinekugel, P., Michel, S., Conzelmann, E., and Sandhoff, K. (1992) Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease, Hum. Genet., 88, 513-523.
-
(1992)
Hum. Genet.
, vol.88
, pp. 513-523
-
-
Leinekugel, P.1
Michel, S.2
Conzelmann, E.3
Sandhoff, K.4
-
14
-
-
0000857916
-
-
8th Edn. The Metabolic and Molecular Bases of Inherited Disease
-
Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D. (eds.) (2001) Lysosomal disorders, in The Metabolic and Molecular Bases of Inherited Disease, 8th Edn., Vol. III, McGraw-Hill, pp. 3371-3894.
-
(2001)
Lysosomal Disorders
, pp. 3371-3894
-
-
Scriver, C.R.1
Beaudet, A.L.2
Sly, W.S.3
Valle, D.4
-
16
-
-
0001359393
-
Multiple forms of human glycosidases and their role in glycoconjugates degradation
-
1:CAS:528:DyaL3sXhvFGnsL0%3D
-
Wiederschain, G. Ya. (1982) Multiple forms of human glycosidases and their role in glycoconjugates degradation, Adv. Clin. Enzymol., 2, 150-157.
-
(1982)
Adv. Clin. Enzymol.
, vol.2
, pp. 150-157
-
-
Wiederschain, G.Y.1
-
17
-
-
84880304245
-
Glycobiology: Progress, problems, and perspectives
-
Wiederschain, G. Ya. (2013) Glycobiology: progress, problems, and perspectives, Biochemistry (Moscow), 178, 679-696.
-
(2013)
Biochemistry (Moscow)
, vol.178
, pp. 679-696
-
-
Wiederschain, G.Y.1
-
18
-
-
0023205026
-
Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases
-
1:STN:280:DyaL1c7gtFensQ%3D%3D
-
Castagnaro, M., Alroy, J., Ucci, A. A., and Glew, R. H. (1987) Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases, Virchows Arch., 54, 16-26.
-
(1987)
Virchows Arch.
, vol.54
, pp. 16-26
-
-
Castagnaro, M.1
Alroy, J.2
Ucci, A.A.3
Glew, R.H.4
-
19
-
-
80755129000
-
Secondary alterations of sphingolipid metabolism in lysosomal storage diseases
-
1:CAS:528:DC%2BC3MXhtVCqtA%3D%3D 21207141
-
Prinetti, A., Prioni, S., Chiricozzi, E., Schuchman, E. H., Chigorno, V., and Somino, S. (2011) Secondary alterations of sphingolipid metabolism in lysosomal storage diseases, Neurochem. Res., 36, 1654-1668.
-
(2011)
Neurochem. Res.
, vol.36
, pp. 1654-1668
-
-
Prinetti, A.1
Prioni, S.2
Chiricozzi, E.3
Schuchman, E.H.4
Chigorno, V.5
Somino, S.6
-
21
-
-
34248517981
-
-
CRC, Taylor and Francis Group Boca Raton, FL, USA
-
Futerman, A. H., and Zimran, A. (eds.) (2007) Gaucher Disease, CRC, Taylor and Francis Group, Boca Raton, FL, USA.
-
(2007)
Gaucher Disease
-
-
Futerman, A.H.1
Zimran, A.2
-
22
-
-
79955079541
-
Genetic disorders of glycan degradation
-
A. Varki R. D Cummings J. D Esko H. Freeze Stanley C. R Bertozzi G. W Hart M. E Etzler (eds) 2nd Edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor New York
-
Freeze, H. (2009) Genetic disorders of glycan degradation, in Essentials of Glycobiology (Varki, A., Cummings, R. D., Esko, J. D., Freeze, H., Stanley, P., Bertozzi, C. R., Hart, G. W., and Etzler, M. E., eds.) 2nd Edn., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, pp. 567-583.
-
(2009)
Essentials of Glycobiology
, pp. 567-583
-
-
Freeze, H.1
-
24
-
-
0032850202
-
Abnormalities of developing white matter in lysosomal storage diseases
-
Folkreth, R. (1999) Abnormalities of developing white matter in lysosomal storage diseases, J. Neuropathol. Exp. Neurol., 58, 887-902.
-
(1999)
J. Neuropathol. Exp. Neurol.
, vol.58
, pp. 887-902
-
-
Folkreth, R.1
-
25
-
-
79955678922
-
Brain white matter abnormalities in pediatric Gaucher type i and type III using diffusion tensor imaging
-
21318351
-
Davies, E. H., Seubarine, K. K., Banks, T., Clark, C. A., and Vellodi, A. (2011) Brain white matter abnormalities in pediatric Gaucher type I and type III using diffusion tensor imaging, J. Inherit. Metab. Dis., 34, 549-553.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 549-553
-
-
Davies, E.H.1
Seubarine, K.K.2
Banks, T.3
Clark, C.A.4
Vellodi, A.5
-
26
-
-
0026757605
-
Dysmyelogenesis in animal model GM1 gangliosidosis: Radiological, morphological and biochemical studies
-
1:STN:280:DyaK3s%2FgtVSmtQ%3D%3D 1388413
-
Kaye, M. E., Alroy, J., Raghavan, S. S., Schwarting, G. A., Adelman, L. S., Runge, V., Gelblum, D., Thalhammer, J. G., and Zuniga, G. (1992) Dysmyelogenesis in animal model GM1 gangliosidosis: radiological, morphological and biochemical studies, Pediatr. Neurol., 8, 255-261.
-
(1992)
Pediatr. Neurol.
, vol.8
, pp. 255-261
-
-
Kaye, M.E.1
Alroy, J.2
Raghavan, S.S.3
Schwarting, G.A.4
Adelman, L.S.5
Runge, V.6
Gelblum, D.7
Thalhammer, J.G.8
Zuniga, G.9
-
27
-
-
0029050665
-
White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease) correlation of MRI findings with pathologic ultrastructural abnormalities
-
1:STN:280:DyaK2MvgslCqsg%3D%3D 7677013
-
Kroll, R. A., Pagel, M. A., Roman-Goldstein, S., Barkovich, A. J., D'Agostino, A. N., and Neuwelt, E. A. (1995) White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease) correlation of MRI findings with pathologic ultrastructural abnormalities, Am. J. Neuroradiol., 16, 1219-1226.
-
(1995)
Am. J. Neuroradiol.
, vol.16
, pp. 1219-1226
-
-
Kroll, R.A.1
Pagel, M.A.2
Roman-Goldstein, S.3
Barkovich, A.J.4
D'Agostino, A.N.5
Neuwelt, E.A.6
-
28
-
-
45149096272
-
Severe hypomyelination as the leading neuroradiological sign in patients with fucosidosis
-
1:CAS:528:DC%2BD1cXosFGlsb4%3D 18504684
-
Prietsch, V., Arnold, S., Kraegeloh-Mann, I., Kuehr, J., and Santar, R. (2008) Severe hypomyelination as the leading neuroradiological sign in patients with fucosidosis, Neuropediatrics, 39, 51-54.
-
(2008)
Neuropediatrics
, vol.39
, pp. 51-54
-
-
Prietsch, V.1
Arnold, S.2
Kraegeloh-Mann, I.3
Kuehr, J.4
Santar, R.5
-
29
-
-
31144458112
-
Novel form of intermediate Salla disease: Clinical and neuroimaging features
-
16417876
-
Morse, R. P., Kleta, R., Alroy, A., and Gahl, W. A. (2005) Novel form of intermediate Salla disease: clinical and neuroimaging features, J. Child Neurol., 20, 814-816.
-
(2005)
J. Child Neurol.
, vol.20
, pp. 814-816
-
-
Morse, R.P.1
Kleta, R.2
Alroy, A.3
Gahl, W.A.4
-
30
-
-
74249110167
-
Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage
-
19427638
-
Bava, S., Theilmann, R. J., Sach, M., May, S. J., Frank, L. R., Hesselink, J. R., Vu, D., and Trauner, D. A. (2010) Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage, Cortex, 46, 206-216.
-
(2010)
Cortex
, vol.46
, pp. 206-216
-
-
Bava, S.1
Theilmann, R.J.2
Sach, M.3
May, S.J.4
Frank, L.R.5
Hesselink, J.R.6
Vu, D.7
Trauner, D.A.8
-
31
-
-
0034718598
-
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation
-
1:CAS:528:DC%2BD3cXnt1ahsb4%3D 11005868
-
Wada, R., Tifft, C. J., and Proia, R. L. (2000) Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation, PNAS, 97, 10954-10959.
-
(2000)
PNAS
, vol.97
, pp. 10954-10959
-
-
Wada, R.1
Tifft, C.J.2
Proia, R.L.3
-
32
-
-
0037378110
-
Central nervous system inflammation is hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
-
Jeyakumar, M., Thomas, R., Elliot-Smith, E., Smith, D. A., van der Spoel, A. C., d'Azzo, A., Hugh Perry, V., Butters, T. D., Dwek, R. A., and Platt, F. M. (2003) Central nervous system inflammation is hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis, Brain, 1126, 974-987.
-
(2003)
Brain
, vol.1126
, pp. 974-987
-
-
Jeyakumar, M.1
Thomas, R.2
Elliot-Smith, E.3
Smith, D.A.4
Van Der Spoel, A.C.5
D'Azzo, A.6
Hugh Perry, V.7
Butters, T.D.8
Dwek, R.A.9
Platt, F.M.10
-
33
-
-
0002054185
-
Galactosylceramide lipidosis globoid cell leukodystrophy (Krabbe disease)
-
C. R Scriver (eds) et al. 8th Edn. McGraw-Hill NY
-
Wenger, D. A., Suzuki, K., Suzuki, Y., and Suzuki, K. (2001) Galactosylceramide lipidosis globoid cell leukodystrophy (Krabbe disease), in The Metabolic & Molecular Basis of Inherited Metabolic Disease, 8th Edn. (Scriver, C. R., et al., eds.) McGraw-Hill, NY, pp. 3669-3594.
-
(2001)
The Metabolic & Molecular Basis of Inherited Metabolic Disease
, pp. 3669-3594
-
-
Wenger, D.A.1
Suzuki, K.2
Suzuki, Y.3
Suzuki, K.4
-
34
-
-
66049163058
-
Psychosine accumulates in membrane microdomains in the brain of Krabbe patients, disrupting the raft architecture
-
1:CAS:528:DC%2BD1MXmt1Cmtbw%3D 19439584
-
White, A. B., Givorgi, M. I., Lopez-Rosas, A., Can, H., van Breema, R., Thinakaran, G., and Bongarzone, E. R. (2009) Psychosine accumulates in membrane microdomains in the brain of Krabbe patients, disrupting the raft architecture, J. Neurosci., 29, 6068-6077.
-
(2009)
J. Neurosci.
, vol.29
, pp. 6068-6077
-
-
White, A.B.1
Givorgi, M.I.2
Lopez-Rosas, A.3
Can, H.4
Van Breema, R.5
Thinakaran, G.6
Bongarzone, E.R.7
-
35
-
-
0034658080
-
Inhibition of cytokinesis by lipid metabolic psychosine
-
1:CAS:528:DC%2BD3cXjtlKns7g%3D 10811833
-
Kanazawa, T., Nakamura, S., Momi, M., Yameji, T., Takemastsu, H., Yano, H., Sabe, H., Yamamoto, A., Kawasaki, T., and Kozutsumi, Y. (2000) Inhibition of cytokinesis by lipid metabolic psychosine, J. Cell Biol., 149, 943-950.
-
(2000)
J. Cell Biol.
, vol.149
, pp. 943-950
-
-
Kanazawa, T.1
Nakamura, S.2
Momi, M.3
Yameji, T.4
Takemastsu, H.5
Yano, H.6
Sabe, H.7
Yamamoto, A.8
Kawasaki, T.9
Kozutsumi, Y.10
-
36
-
-
43549092043
-
The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes implication for Krabbe disease
-
1:CAS:528:DC%2BD1cXntVCkt7Y%3D 18248608
-
Giri, S., Khan, M., Nath, N., Singh, I., and Singh, A. K. (2008) The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes implication for Krabbe disease, J. Neurochem., 105, 1820-1833.
-
(2008)
J. Neurochem.
, vol.105
, pp. 1820-1833
-
-
Giri, S.1
Khan, M.2
Nath, N.3
Singh, I.4
Singh, A.K.5
-
37
-
-
0036241563
-
Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated nitric oxide synthase via AP-1 and C/EBP. Implications of Krabbe disease
-
1:CAS:528:DC%2BD38XjsVChurs%3D 11978730
-
Giri, S., Jatana, M., Rattan, R., Won, J. S., Singh, I., and Singh, A. K. (2002) Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated nitric oxide synthase via AP-1 and C/EBP. Implications of Krabbe disease, FASEB J., 16, 661-672.
-
(2002)
FASEB J.
, vol.16
, pp. 661-672
-
-
Giri, S.1
Jatana, M.2
Rattan, R.3
Won, J.S.4
Singh, I.5
Singh, A.K.6
-
38
-
-
84883149909
-
MMP-3 mediated psychosine-induced globoid cell formation: Implications for leukodystrophy pathology
-
23404611
-
Ijichi, K., Brown, G. D., Moore, C. S., Lee, J-P., Winokur, P. N., Pagarigan, R., Snyder, E. Y., Bongarzone, E. R., and Crocker, S. J. (2013) MMP-3 mediated psychosine-induced globoid cell formation: implications for leukodystrophy pathology, Glia, 61, 765-777.
-
(2013)
Glia
, vol.61
, pp. 765-777
-
-
Ijichi, K.1
Brown, G.D.2
Moore, C.S.3
Lee, J.-P.4
Winokur, P.N.5
Pagarigan, R.6
Snyder, E.Y.7
Bongarzone, E.R.8
Crocker, S.J.9
-
39
-
-
21844461354
-
Peroxisomal participation in psychosine-mediated toxicity implications for Krabbe's disease
-
1:CAS:528:DC%2BD2MXkvF2nu7g%3D 15898099
-
Khan, M., Haq, E., Giri, S., Singh, I., and Singh, A. K. (2005) Peroxisomal participation in psychosine-mediated toxicity implications for Krabbe's disease, J. Neurosci. Res., 80, 845-854.
-
(2005)
J. Neurosci. Res.
, vol.80
, pp. 845-854
-
-
Khan, M.1
Haq, E.2
Giri, S.3
Singh, I.4
Singh, A.K.5
-
40
-
-
41949112547
-
Peripheral neuropathy in the twicher mouse accumulation of extracellular matrix in endoneurium and aberrant expression of ion channels
-
1:CAS:528:DC%2BD1cXksVKlsbw%3D 18172657
-
Kagitani-Shimono, K., Mohri, I., Yagi, T., Tanika, M., and Suzuki, K. (2008) Peripheral neuropathy in the twicher mouse accumulation of extracellular matrix in endoneurium and aberrant expression of ion channels, Acta Neuropathol., 115, 577-587.
-
(2008)
Acta Neuropathol.
, vol.115
, pp. 577-587
-
-
Kagitani-Shimono, K.1
Mohri, I.2
Yagi, T.3
Tanika, M.4
Suzuki, K.5
-
41
-
-
67349093250
-
Critical role of iron in the pathogenesis of the murine gangliosidoses
-
1:CAS:528:DC%2BD1MXmtVeks78%3D 19449457
-
Jeyakumar, M., Williams, I., Smith, D. A., Cox, T. M., and Platt, F. M. (2009) Critical role of iron in the pathogenesis of the murine gangliosidoses, Neurobiol. Dis., 34, 406-416.
-
(2009)
Neurobiol. Dis.
, vol.34
, pp. 406-416
-
-
Jeyakumar, M.1
Williams, I.2
Smith, D.A.3
Cox, T.M.4
Platt, F.M.5
-
42
-
-
51449114507
-
Lipid composition of microdomains is altered in a cell model of Gaucher disease
-
1:CAS:528:DC%2BD1cXovVCrsb4%3D 18427156
-
Hein, L. K., Duplock, S., Hopwood, J. J., and Fuller, M. (2008) Lipid composition of microdomains is altered in a cell model of Gaucher disease, J. Lipid Res., 49, 1725-1734.
-
(2008)
J. Lipid Res.
, vol.49
, pp. 1725-1734
-
-
Hein, L.K.1
Duplock, S.2
Hopwood, J.J.3
Fuller, M.4
-
43
-
-
0031863974
-
Decreased membrane fluidity and unsaturated fatty acids in Niemann-Pick disease type C fibroblasts
-
1:CAS:528:DyaK1cXjs1ahsb4%3D 9630707
-
Koike, T., Ishida, G., Taniguchi, M., Higaki, K., Ayaki, Y., Saito, M., Sakakihara, Y., Iwamori, M., and Ohno, K. (1998) Decreased membrane fluidity and unsaturated fatty acids in Niemann-Pick disease type C fibroblasts, Biochim. Biophys. Acta, 1406, 327-335.
-
(1998)
Biochim. Biophys. Acta
, vol.1406
, pp. 327-335
-
-
Koike, T.1
Ishida, G.2
Taniguchi, M.3
Higaki, K.4
Ayaki, Y.5
Saito, M.6
Sakakihara, Y.7
Iwamori, M.8
Ohno, K.9
-
44
-
-
0036703779
-
Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in Niemann-Pick C murine model
-
1:CAS:528:DC%2BD38XlvFKnsb0%3D 12151531
-
Bu, B., Li, J., Davies, P., and Vincent, I. (2002) Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in Niemann-Pick C murine model, J. Neurosci., 22, 6515-6525.
-
(2002)
J. Neurosci.
, vol.22
, pp. 6515-6525
-
-
Bu, B.1
Li, J.2
Davies, P.3
Vincent, I.4
-
45
-
-
33644523740
-
Alteration of glutamate and GABA transporters in the hippocampus of Niemann-Pick disease type C mouse using proteomic analysis
-
1:CAS:528:DC%2BD28XitlGnsrc%3D 16429462
-
Byun, K., Kim, J., Hutchison, B., Yang, S. R., Kang, K. S., Cho, M., Hwang, K., Michikawa, M., Jeon, Y. W., Paik, Y. K., and Lee, B. (2006) Alteration of glutamate and GABA transporters in the hippocampus of Niemann-Pick disease type C mouse using proteomic analysis, Proteomics, 6, 1230-1236.
-
(2006)
Proteomics
, vol.6
, pp. 1230-1236
-
-
Byun, K.1
Kim, J.2
Hutchison, B.3
Yang, S.R.4
Kang, K.S.5
Cho, M.6
Hwang, K.7
Michikawa, M.8
Jeon, Y.W.9
Paik, Y.K.10
Lee, B.11
-
46
-
-
3142774112
-
Niemann-Pick C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone
-
1:CAS:528:DC%2BD2cXlt1Gjtr4%3D 15208706
-
Griffin, L. D., Gong, W., Verot, L., and Mellon, S. H. (2004) Niemann-Pick C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone, Nature Med., 10, 704-711.
-
(2004)
Nature Med.
, vol.10
, pp. 704-711
-
-
Griffin, L.D.1
Gong, W.2
Verot, L.3
Mellon, S.H.4
-
47
-
-
15744378799
-
Altered cholesterol metabolism in Niemann-Pick C1 mouse brain affects mitochondrial function
-
1:CAS:528:DC%2BD2MXisVyjtLk%3D 15644330
-
Yu, W., Gong, J-S., Ko, M., Garver, W. S., Yanagisawa, K., and Michikawa, M. (2005) Altered cholesterol metabolism in Niemann-Pick C1 mouse brain affects mitochondrial function, J. Biol. Chem., 280, 11731-11739.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 11731-11739
-
-
Yu, W.1
Gong, J.-S.2
Ko, M.3
Garver, W.S.4
Yanagisawa, K.5
Michikawa, M.6
-
48
-
-
16844373434
-
Molecular, anatomical and biochemical events associated with neurodegeneration in mice with Niemann-Pick C disease
-
1:CAS:528:DC%2BD2MXjvVWmsL0%3D 15835268
-
Li, H., Repa, J. J., Valasek, M. A., Beltroy, E. P., Turley, S. D., German, D. C., and Dietschy, J. M. (2005) Molecular, anatomical and biochemical events associated with neurodegeneration in mice with Niemann-Pick C disease, J. Neuropathol. Exp. Neurol., 64, 323-333.
-
(2005)
J. Neuropathol. Exp. Neurol.
, vol.64
, pp. 323-333
-
-
Li, H.1
Repa, J.J.2
Valasek, M.A.3
Beltroy, E.P.4
Turley, S.D.5
German, D.C.6
Dietschy, J.M.7
-
49
-
-
78149282263
-
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders
-
1:CAS:528:DC%2BC3cXht1SlurvF 20871593
-
Fraldi, A., Annunziata, F., Lombardi, A., Kasier, H.-L., Medina, D. L., Spampanat, C., Fedele, A. O., Polischuk, R., Sorrentino, N. C., Simons, K., and Ballabio, A. (2010) Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders, EMBO J., 29, 3607-3620.
-
(2010)
EMBO J.
, vol.29
, pp. 3607-3620
-
-
Fraldi, A.1
Annunziata, F.2
Lombardi, A.3
Kasier, H.-L.4
Medina, D.L.5
Spampanat, C.6
Fedele, A.O.7
Polischuk, R.8
Sorrentino, N.C.9
Simons, K.10
Ballabio, A.11
-
50
-
-
33748754053
-
Monocytes differentiation up-regulates the expression of lysosomal sialidase, Neu I, and triggers its targeting to plasma membrane via major histocompatibility complex class II positive compartments
-
1:CAS:528:DC%2BD28XptlKmtb4%3D 16835219
-
Liang, F., Seyrantepe, V., Landry, K., Ahmad, R., Ahmad, A., Stamatos, N. M., and Pshezhetsky, A. V. (2006) Monocytes differentiation up-regulates the expression of lysosomal sialidase, Neu I, and triggers its targeting to plasma membrane via major histocompatibility complex class II positive compartments, J. Biol. Chem., 281, 27526-27538.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 27526-27538
-
-
Liang, F.1
Seyrantepe, V.2
Landry, K.3
Ahmad, R.4
Ahmad, A.5
Stamatos, N.M.6
Pshezhetsky, A.V.7
-
51
-
-
84880279999
-
Desialylation of surface receptors as a new dimension in cell signaling
-
1:CAS:528:DC%2BC3sXhtFSgsr7M
-
Pshezhetsky, A. V., and Ashmarina, L. I. (2013) Desialylation of surface receptors as a new dimension in cell signaling, Biochemistry (Moscow), 78, 736-745.
-
(2013)
Biochemistry (Moscow)
, vol.78
, pp. 736-745
-
-
Pshezhetsky, A.V.1
Ashmarina, L.I.2
-
52
-
-
46049114060
-
Neuraminidase i is a negative regulator of lysosomal exocytosis
-
1:CAS:528:DC%2BD1cXovVSgurs%3D
-
Yogalingam, G., Bonten, E. J., van de Vlekker, D., Hu, H., Moshiach, S., Connell, S. A., and d'Azzo, A. (2008) Neuraminidase I is a negative regulator of lysosomal exocytosis, Devel. Cell, 15, 74-86.
-
(2008)
Devel. Cell
, vol.15
, pp. 74-86
-
-
Yogalingam, G.1
Bonten, E.J.2
Van De Vlekker, D.3
Hu, H.4
Moshiach, S.5
Connell, S.A.6
D'Azzo, A.7
-
53
-
-
84867745839
-
Exocytosis is impaired in mucopolysaccharidosis III mouse chromaffin cells
-
1:CAS:528:DC%2BC38Xhs12mtbbM 23022219
-
Keating, D. J., Winter, M. A., Hemsley, K. M., Mackenzie, K. D., Teo, E. H., Hopwood, J. J., Brook, D. A., and Parkinson-Lawrence, E. J. (2012) Exocytosis is impaired in mucopolysaccharidosis III mouse chromaffin cells, Neuroscience, 227, 110-118.
-
(2012)
Neuroscience
, vol.227
, pp. 110-118
-
-
Keating, D.J.1
Winter, M.A.2
Hemsley, K.M.3
Mackenzie, K.D.4
Teo, E.H.5
Hopwood, J.J.6
Brook, D.A.7
Parkinson-Lawrence, E.J.8
-
54
-
-
14944345910
-
Delay of myelin formation in arylsufatase A-deficient mice
-
Yaghootfan, A., Gieselmann, V., and Eckhardt, M. (2005) Delay of myelin formation in arylsufatase A-deficient mice, Eur. J. Neurosci., 21, 711-720.
-
(2005)
Eur. J. Neurosci.
, vol.21
, pp. 711-720
-
-
Yaghootfan, A.1
Gieselmann, V.2
Eckhardt, M.3
-
55
-
-
78649999667
-
Brain N-acetylaspartate level correlate with motor function in metachromatic leukodystrophy
-
Dali, C. I., Hanson, L. G., Barton, N. W., Fogh, J., Nair, N., and Lund, A. M. (2010) Brain N-acetylaspartate level correlate with motor function in metachromatic leukodystrophy, Neurology, 75, 1896-1903.
-
(2010)
Neurology
, vol.75
, pp. 1896-1903
-
-
Dali, C.I.1
Hanson, L.G.2
Barton, N.W.3
Fogh, J.4
Nair, N.5
Lund, A.M.6
-
56
-
-
34548426172
-
Increase sulfatide synthesis in myelin-forming cells of arylsulfatase A deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy
-
Ramakirshnan, H., Hedayati, K. K., Lullmann-Rauch, R., Wessing, C., Fewou, S. N., Maier, H., Goebel, H. H., Gieselmann, V., and Eckhardt, M. (2007) Increase sulfatide synthesis in myelin-forming cells of arylsulfatase A deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy, J. Neurosci., 27, 9482-9490.
-
(2007)
J. Neurosci.
, vol.27
, pp. 9482-9490
-
-
Ramakirshnan, H.1
Hedayati, K.K.2
Lullmann-Rauch, R.3
Wessing, C.4
Fewou, S.N.5
Maier, H.6
Goebel, H.H.7
Gieselmann, V.8
Eckhardt, M.9
-
57
-
-
84871240040
-
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy
-
22993277
-
Groeschel, S., Dali, C., Clas, P., Bohringer, J., Duno, M., Krarup, C., Kehrer, C., Wilke, M., and Krageloh-Mann, I. (2012) Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy, Neurology, 79, 1662-1670.
-
(2012)
Neurology
, vol.79
, pp. 1662-1670
-
-
Groeschel, S.1
Dali, C.2
Clas, P.3
Bohringer, J.4
Duno, M.5
Krarup, C.6
Kehrer, C.7
Wilke, M.8
Krageloh-Mann, I.9
-
58
-
-
0028218020
-
The role of oligodendrocytes and myelin on axon maturation in the developing rat retinofugal pathways
-
1:STN:280:DyaK2c3jvVegsg%3D%3D 7514208
-
Colello, R. J., Pott, U., and Schwab, M. E. (1994) The role of oligodendrocytes and myelin on axon maturation in the developing rat retinofugal pathways, J. Neurosci., 14, 2594-2605.
-
(1994)
J. Neurosci.
, vol.14
, pp. 2594-2605
-
-
Colello, R.J.1
Pott, U.2
Schwab, M.E.3
-
59
-
-
0033198039
-
The role of oligodendrocytes and myelin on axonal developing rat retinofugate pathway
-
1:CAS:528:DyaK1MXlslWnurc%3D 10460234
-
Brady, S. T., Stang, E., Kirkpatrick, L. L., et al. (1999) The role of oligodendrocytes and myelin on axonal developing rat retinofugate pathway, J. Neurosci., 19, 7278-7288.
-
(1999)
J. Neurosci.
, vol.19
, pp. 7278-7288
-
-
Brady, S.T.1
Stang, E.2
Kirkpatrick, L.L.3
-
60
-
-
79953188349
-
Lipid metabolism in myelinated glial cells: Lesson from human inherited disorders and mouse models
-
1:CAS:528:DC%2BC3MXisFKkurg%3D 21062955
-
Chrast, R., Saher, G., Nave, R.-A., and Verheijen, M. G. H. (2011) Lipid metabolism in myelinated glial cells: lesson from human inherited disorders and mouse models, J. Lipid Res., 52, 419-434.
-
(2011)
J. Lipid Res.
, vol.52
, pp. 419-434
-
-
Chrast, R.1
Saher, G.2
Nave, R.-A.3
Verheijen, M.G.H.4
-
61
-
-
0032818732
-
Toward understanding the neuronal pathogenesis of aspartylgucosaminuria: Expression of aspartylglucosaminidase in brain during development
-
1:CAS:528:DyaK1MXltVCgtbY%3D 10444340
-
Uusitalo, A., Tenhunen, K., Heinonen, O., Hiltonen, J. O., Saarma, M., Haltia, M., Jalanko, A., and Peltonen, L. (1999) Toward understanding the neuronal pathogenesis of aspartylgucosaminuria: expression of aspartylglucosaminidase in brain during development, Mol. Genet. Metab., 67, 294-307.
-
(1999)
Mol. Genet. Metab.
, vol.67
, pp. 294-307
-
-
Uusitalo, A.1
Tenhunen, K.2
Heinonen, O.3
Hiltonen, J.O.4
Saarma, M.5
Haltia, M.6
Jalanko, A.7
Peltonen, L.8
-
62
-
-
0025057873
-
Development of glial and myelin abnormalities in optic nerve and corpus callosum
-
1:STN:280:DyaK3c7osFyquw%3D%3D 2138133
-
Lovell, K. L. (1990) Development of glial and myelin abnormalities in optic nerve and corpus callosum, Glia, 3, 26-32.
-
(1990)
Glia
, vol.3
, pp. 26-32
-
-
Lovell, K.L.1
-
63
-
-
0025864370
-
Neuropathology of bovine β-mannosidosis
-
1:STN:280:DyaK3MznsVWltA%3D%3D 1895144
-
Patterson, J. S., Jones, M. Z., Lovell, K. L., and Abbitt, B. (1991) Neuropathology of bovine β-mannosidosis, J. Neuropathol. Exp. Neurol., 50, 538-546.
-
(1991)
J. Neuropathol. Exp. Neurol.
, vol.50
, pp. 538-546
-
-
Patterson, J.S.1
Jones, M.Z.2
Lovell, K.L.3
Abbitt, B.4
-
64
-
-
0025273218
-
Caprine β-mannosidosis. Abnormal thyroid structure and function in lysosomal storage disease
-
1:STN:280:DyaK3czisFKqtw%3D%3D 2374396
-
Boyer, P. J., Jones, M. Z., Nachreiner, R. F., Refsal, K. R., Common, R. S., Kelley, J., and Lovell, K. L. (1990) Caprine β-mannosidosis. Abnormal thyroid structure and function in lysosomal storage disease, Lab. Invest., 63, 100-106.
-
(1990)
Lab. Invest.
, vol.63
, pp. 100-106
-
-
Boyer, P.J.1
Jones, M.Z.2
Nachreiner, R.F.3
Refsal, K.R.4
Common, R.S.5
Kelley, J.6
Lovell, K.L.7
-
65
-
-
45149096272
-
Severe hypomyelination as the leading neuroradiological sign in patients with fucosidosis
-
1:CAS:528:DC%2BD1cXosFGlsb4%3D 18504684
-
Prietsch, V., Arnold, S., Kraegeloh-Mann, I., Kuehr, J., and Santar, R. (2008) Severe hypomyelination as the leading neuroradiological sign in patients with fucosidosis, Neuropediatrics, 39, 51-54.
-
(2008)
Neuropediatrics
, vol.39
, pp. 51-54
-
-
Prietsch, V.1
Arnold, S.2
Kraegeloh-Mann, I.3
Kuehr, J.4
Santar, R.5
-
66
-
-
79151470664
-
Investigation of cerebrocortical and cerebellar pathology in canine fucosidosis and comparison to aged brain
-
21056668
-
Kondagari, G. S., Yang, J., and Taylor, R. M. (2011) Investigation of cerebrocortical and cerebellar pathology in canine fucosidosis and comparison to aged brain, Neurobiol. Dis., 41, 605-613.
-
(2011)
Neurobiol. Dis.
, vol.41
, pp. 605-613
-
-
Kondagari, G.S.1
Yang, J.2
Taylor, R.M.3
-
67
-
-
84871720426
-
Membrane-bound α-synuclein interacts with α- glucocerebrosidase and inhibits enzyme activity
-
1:CAS:528:DC%2BC38XhvVKqu77N 23266198
-
Yap, T. L., Velayati, A., Sidransky, E., and Lee, J. C. (2013) Membrane-bound α-synuclein interacts with α-glucocerebrosidase and inhibits enzyme activity, Mol. Genet. Metab., 108, 56-64.
-
(2013)
Mol. Genet. Metab.
, vol.108
, pp. 56-64
-
-
Yap, T.L.1
Velayati, A.2
Sidransky, E.3
Lee, J.C.4
-
68
-
-
77956537090
-
Interaction between parkin and mutant glucocerebrosidase variants: A possible link between Parkinson disease and Gaucher disease
-
1:CAS:528:DC%2BC3cXhtFCrsrvE 20643691
-
Ron, I., Rapaport, D., and Horowitz, M. (2010) Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease, Hum. Mol. Genet., 19, 3771-3781.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3771-3781
-
-
Ron, I.1
Rapaport, D.2
Horowitz, M.3
-
69
-
-
79960009804
-
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
-
1:CAS:528:DC%2BC3MXoslCksrk%3D 21700325
-
Mazzulli, J. R., Xu, Y-H., Sun, Y., Knight, A. L., McLean, P. J., Caldwell, G. A., Sidransky, E., Grabowski, G. A., and Krainc, D. (2011) Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies, Cell, 146, 37-52.
-
(2011)
Cell
, vol.146
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.-H.2
Sun, Y.3
Knight, A.L.4
McLean, P.J.5
Caldwell, G.A.6
Sidransky, E.7
Grabowski, G.A.8
Krainc, D.9
-
70
-
-
0024541436
-
Functions of sphingolipids and sphingolipid breakdown products in cellular regulation
-
1:CAS:528:DyaL1MXhtFaitLk%3D 2643164
-
Hannun, Y. A., and Bell, R. M. (1989) Functions of sphingolipids and sphingolipid breakdown products in cellular regulation, Science, 243, 500-507.
-
(1989)
Science
, vol.243
, pp. 500-507
-
-
Hannun, Y.A.1
Bell, R.M.2
-
71
-
-
0030448021
-
Functions of ceramide in coordinating cellular response to stress
-
1:CAS:528:DyaK28XnsFGisrc%3D 8943189
-
Hannun, Y. A. (1996) Functions of ceramide in coordinating cellular response to stress, Science, 274, 1855-1859.
-
(1996)
Science
, vol.274
, pp. 1855-1859
-
-
Hannun, Y.A.1
-
72
-
-
0033057414
-
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III, and VI
-
1:CAS:528:DyaK1MXivFOrsrY%3D 10328965
-
Alroy, J., Haskins, M., and Birk, D. E. (1999) Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III, and VI, Exp. Eye Res., 68, 523-530.
-
(1999)
Exp. Eye Res.
, vol.68
, pp. 523-530
-
-
Alroy, J.1
Haskins, M.2
Birk, D.E.3
-
73
-
-
0016260423
-
Basal lamina scaffold anatomy and significance for maintenance of orderly tissue structure
-
Varcko, R. (1974) Basal lamina scaffold anatomy and significance for maintenance of orderly tissue structure, Am. J. Pathol., 77, 314-344.
-
(1974)
Am. J. Pathol.
, vol.77
, pp. 314-344
-
-
Varcko, R.1
-
74
-
-
0016372642
-
Manifestation of diabetes mellitus: Their possible relationship to underlying cell defect
-
Varcko, R., and Benditt, E. P. (1974) Manifestation of diabetes mellitus: their possible relationship to underlying cell defect, Am. J. Pathol., 75, 204-223.
-
(1974)
Am. J. Pathol.
, vol.75
, pp. 204-223
-
-
Varcko, R.1
Benditt, E.P.2
-
75
-
-
16844371912
-
Vascular complications of Fabry disease: Enzyme replacement and other therapies
-
1:STN:280:DC%2BD2M3lsFSisA%3D%3D
-
Hughes, D. A., and Meta, A. B. (2005) Vascular complications of Fabry disease: enzyme replacement and other therapies, Acta Paediatr., 94(Suppl. 447), 28-33.
-
(2005)
Acta Paediatr.
, vol.94
, Issue.SUPPL. 447
, pp. 28-33
-
-
Hughes, D.A.1
Meta, A.B.2
-
76
-
-
84869456811
-
Possible role of transforming growth factor-β1 and vascular growth factor in Fabry disease nephropathy
-
1:CAS:528:DC%2BC38XhvFShs73F 23007467
-
Lee, M. H., Choi, E. N., Jeon, Y. J., and Jung, S-C. (2012) Possible role of transforming growth factor-β1 and vascular growth factor in Fabry disease nephropathy, Int. J. Mol. Med., 30, 1275-1280.
-
(2012)
Int. J. Mol. Med.
, vol.30
, pp. 1275-1280
-
-
Lee, M.H.1
Choi, E.N.2
Jeon, Y.J.3
Jung, S.-C.4
-
77
-
-
0036626870
-
Endothelial nitric oxidase synthase gene polymorphisms in Fabry disease
-
1:STN:280:DC%2BD38zns1Whuw%3D%3D 12121349
-
Heltianu, C., Costache, G., Azibi, K., Azibi, K., Poenaru, L., and Simiionescu, M. (2002) Endothelial nitric oxidase synthase gene polymorphisms in Fabry disease, Clin. Genet., 61, 423-429.
-
(2002)
Clin. Genet.
, vol.61
, pp. 423-429
-
-
Heltianu, C.1
Costache, G.2
Azibi, K.3
Azibi, K.4
Poenaru, L.5
Simiionescu, M.6
-
78
-
-
69849097516
-
Decreased nitricoxide bioavailability in a mouse model of Fabry disease
-
1:CAS:528:DC%2BD1MXhtFKqu7rO 19628671
-
Shu, L., Park, J. L., Byun, J., Pennathur, S., Kollmeyer, J., and Shayman, J. A. (2009) Decreased nitricoxide bioavailability in a mouse model of Fabry disease, J. Am. Soc. Nephrol., 20, 1975-1985.
-
(2009)
J. Am. Soc. Nephrol.
, vol.20
, pp. 1975-1985
-
-
Shu, L.1
Park, J.L.2
Byun, J.3
Pennathur, S.4
Kollmeyer, J.5
Shayman, J.A.6
-
79
-
-
0033950217
-
Profile of endothelial and leukocytes activation in Fabry patients
-
1:CAS:528:DC%2BD3cXhtV2mtrc%3D 10665494
-
Degraba, T., Azhar, S., Dignat-George, F., Brown, E., Boutiere, B., Altarescu, G., Mccarro, R., and Schiffmann, R. (2000) Profile of endothelial and leukocytes activation in Fabry patients, Ann. Neurol., 47, 229-233.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 229-233
-
-
Degraba, T.1
Azhar, S.2
Dignat-George, F.3
Brown, E.4
Boutiere, B.5
Altarescu, G.6
McCarro, R.7
Schiffmann, R.8
-
80
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
1:CAS:528:DC%2BD1cXjtVSjurY%3D 18287059
-
Aerts, J. M., Groener, J. E., Donker-Koopman, W. E., Strijland, A., Ottenhoff, R., van Romen, C., Mirzaian, M., Wijburg, A. F., Linthorst, G. E., Vedder, A. C., Rombach, S. M., Cox-Brinkman, J., Somerharju, P., Boot, R. G., Hollak, C. E., Brady, R. O., and Poorhuis, B. J. (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease, Proc. Natl. Acad. Sci. USA, 105, 2812-2817.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Donker-Koopman, W.E.3
Strijland, A.4
Ottenhoff, R.5
Van Romen, C.6
Mirzaian, M.7
Wijburg, A.F.8
Linthorst, G.E.9
Vedder, A.C.10
Rombach, S.M.11
Cox-Brinkman, J.12
Somerharju, P.13
Boot, R.G.14
Hollak, C.E.15
Brady, R.O.16
Poorhuis, B.J.17
-
81
-
-
50649111889
-
Galactotriaosylceramide leads to K(Ca)3,1 channel dysfunction: A new insight to endothelial dysfunction in Fabry disease
-
1:CAS:528:DC%2BD1cXhtFCqtr7L 18565198
-
Park, J. L., Whitesall, S. E., D'Alecy, L. G., Shu, L., and Shayman, J. A. (2008) Galactotriaosylceramide leads to K(Ca)3,1 channel dysfunction: a new insight to endothelial dysfunction in Fabry disease, Clin. Exp. Pharmacol. Physiol., 35, 1156-1163.
-
(2008)
Clin. Exp. Pharmacol. Physiol.
, vol.35
, pp. 1156-1163
-
-
Park, J.L.1
Whitesall, S.E.2
D'Alecy, L.G.3
Shu, L.4
Shayman, J.A.5
-
82
-
-
78751509194
-
Galactotriaosylceramide leads to K(Ca)3,1 channel dysfunction: A new insight to endothelial dysfunction in Fabry disease
-
1:CAS:528:DC%2BC3MXnsVWjsQ%3D%3D 20971723
-
Park, S., Kim, J. A., Joo, K. Y., Choi, S., Choi, E. N., Shin, J. A., Han, K. H., Jung, S. C., and Suh, S. H. (2011) Galactotriaosylceramide leads to K(Ca)3,1 channel dysfunction: a new insight to endothelial dysfunction in Fabry disease, Cardiovasc. Res., 89, 290-299.
-
(2011)
Cardiovasc. Res.
, vol.89
, pp. 290-299
-
-
Park, S.1
Kim, J.A.2
Joo, K.Y.3
Choi, S.4
Choi, E.N.5
Shin, J.A.6
Han, K.H.7
Jung, S.C.8
Suh, S.H.9
-
83
-
-
1942503219
-
Fabry disease: Reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts
-
1:CAS:528:DC%2BD2cXjtl2mu7g%3D 15110329
-
Lucke, T., Hoppner, W., Schmidt, E., Illsinger, S., and Das, A. M. (2004) Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts, Mol. Genet. Metab., 82, 93-97.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 93-97
-
-
Lucke, T.1
Hoppner, W.2
Schmidt, E.3
Illsinger, S.4
Das, A.M.5
-
84
-
-
50149103246
-
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
-
Vylet, P., Hulkova, H., Zivna, M., Berna, L., Novak, P., Elleder, M., and Kmoch, S. (2008) Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy, J. Inherit. Metab. Dis., 31, 508-517.
-
(2008)
J. Inherit. Metab. Dis.
, vol.31
, pp. 508-517
-
-
Vylet, P.1
Hulkova, H.2
Zivna, M.3
Berna, L.4
Novak, P.5
Elleder, M.6
Kmoch, S.7
-
85
-
-
51749110203
-
Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease
-
1:CAS:528:DC%2BD1cXhtFamsLbL 18278558
-
Teitcher, M., Weinerman, S., Whybra, C., Beck, M., Sharon, N., Elstein, D., and Altarscu, G. (2008) Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease, Genetica, 134, 377-383.
-
(2008)
Genetica
, vol.134
, pp. 377-383
-
-
Teitcher, M.1
Weinerman, S.2
Whybra, C.3
Beck, M.4
Sharon, N.5
Elstein, D.6
Altarscu, G.7
-
86
-
-
0037413688
-
Cathepsin A regulates chaperone-mediated autophagy through cleavage of lysosomal receptor
-
1:CAS:528:DC%2BD3sXovFaktg%3D%3D 12505983
-
Cuervo, A. N., Mann, L., Bonten, E. J., d'Azzo, A., and Dice, J. F. (2003) Cathepsin A regulates chaperone-mediated autophagy through cleavage of lysosomal receptor, EMBO J., 22, 47-59.
-
(2003)
EMBO J.
, vol.22
, pp. 47-59
-
-
Cuervo, A.N.1
Mann, L.2
Bonten, E.J.3
D'Azzo, A.4
Dice, J.F.5
-
87
-
-
46049114060
-
Neuraminidase i is a negative regulator of lysosomal exocytosis
-
1:CAS:528:DC%2BD1cXovVSgurs%3D
-
Yogalingam, G., Bonten, E. J., van de Vlekker, D., Hu, H., Moshiach, S., Connell, S. A., and d'Azzo, A. (2008) Neuraminidase I is a negative regulator of lysosomal exocytosis, Devel. Cell, 15, 74-86.
-
(2008)
Devel. Cell
, vol.15
, pp. 74-86
-
-
Yogalingam, G.1
Bonten, E.J.2
Van De Vlekker, D.3
Hu, H.4
Moshiach, S.5
Connell, S.A.6
D'Azzo, A.7
-
88
-
-
84869404265
-
Effect of cathepsins deficiency in intracellular junction proteins, luminal mucus layers, and extra-cellular matrix constituents in mouse colon
-
1:CAS:528:DC%2BC3sXns1Wrsg%3D%3D 23152408
-
Arampatzidou, M., Schutte, A., Hansson, G. C., Saftig, P., and Brix, K. (2012) Effect of cathepsins deficiency in intracellular junction proteins, luminal mucus layers, and extra-cellular matrix constituents in mouse colon, Biol. Chem., 393, 1391-1403.
-
(2012)
Biol. Chem.
, vol.393
, pp. 1391-1403
-
-
Arampatzidou, M.1
Schutte, A.2
Hansson, G.C.3
Saftig, P.4
Brix, K.5
-
89
-
-
38149018555
-
Immune system regularities in lysosomal disorders
-
1:CAS:528:DC%2BD1cXislGjtrs%3D 17924126
-
Castaneda, J. A., Lim, M. J., Cooper, J. D., and Pierce, D. A. (2008) Immune system regularities in lysosomal disorders, Acta Neuropathol., 115, 159-174.
-
(2008)
Acta Neuropathol.
, vol.115
, pp. 159-174
-
-
Castaneda, J.A.1
Lim, M.J.2
Cooper, J.D.3
Pierce, D.A.4
-
90
-
-
0033840811
-
Immunodeficiency in alpha-mannosidosis: A matched case-control study on immunoglobulin, complement factors, receptor density, phagocytosis and intracellular killing in leukocytes
-
1:CAS:528:DC%2BD3cXlsVWqs78%3D 11014473
-
Malm, D., Halvorsen, D. S., Tranebjaerg, L., and Sjursen, H. (2000) Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulin, complement factors, receptor density, phagocytosis and intracellular killing in leukocytes, Eur. J. Pediatr., 159, 699-703.
-
(2000)
Eur. J. Pediatr.
, vol.159
, pp. 699-703
-
-
Malm, D.1
Halvorsen, D.S.2
Tranebjaerg, L.3
Sjursen, H.4
-
91
-
-
20444441569
-
Evidence for link between phospholipid metabolism and expression of CD1d and MHC-class II: Monocytes from Gaucher disease patients as a model
-
1:CAS:528:DC%2BD2MXlslClu70%3D 15916690
-
Balreira, A., Lacerda, L., Sa Miranda, C., and Arosa, F. A. (2005) Evidence for link between phospholipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model, Br. J. Haematol., 129, 667-676.
-
(2005)
Br. J. Haematol.
, vol.129
, pp. 667-676
-
-
Balreira, A.1
Lacerda, L.2
Sa Miranda, C.3
Arosa, F.A.4
-
92
-
-
14144255733
-
Lysosomal storage disorders
-
Vellodi, A. (2004) Lysosomal storage disorders, Br. J. Hematol., 124, 413-431.
-
(2004)
Br. J. Hematol.
, vol.124
, pp. 413-431
-
-
Vellodi, A.1
-
93
-
-
68649108116
-
Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages
-
Kacher, Y., and Futerman, A. H. (2008) Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages, Blood Cell Mol. Dis., 43, 134-137.
-
(2008)
Blood Cell Mol. Dis.
, vol.43
, pp. 134-137
-
-
Kacher, Y.1
Futerman, A.H.2
-
94
-
-
42549170751
-
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: Data from an adult cohort of 63 patients and review of the literature
-
1:CAS:528:DC%2BD1cXkvFSjtr8%3D 18274746
-
De Fost, M., Out, T. A., de Wilde, F. A., Tjin, E. P., Pals, S. T., van Oers, M. H. J., Boot, R. G., Aerts, J. F. M., Maas, M., von Dahl, S., and Hollak, C. E. (2008) Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature, Ann. Hematol., 87, 439-449.
-
(2008)
Ann. Hematol.
, vol.87
, pp. 439-449
-
-
De Fost, M.1
Out, T.A.2
De Wilde, F.A.3
Tjin, E.P.4
Pals, S.T.5
Van Oers, M.H.J.6
Boot, R.G.7
Aerts, J.F.M.8
Maas, M.9
Von Dahl, S.10
Hollak, C.E.11
-
95
-
-
33645293202
-
Dendritic cells in patients with type i Gaucher disease are decreased in number but functionally normal
-
1:CAS:528:DC%2BD28XivVGrtr8%3D
-
Micheva, I., Marinakis, T., Repa, C., Kouraklis-Symeonidis, A., Vlacha, V., Anagnostopoulos, N., Zoumbos, N., and Symeonidis, A. (2006) Dendritic cells in patients with type I Gaucher disease are decreased in number but functionally normal, Blood Cell Mol. Dis., 36, 298-307.
-
(2006)
Blood Cell Mol. Dis.
, vol.36
, pp. 298-307
-
-
Micheva, I.1
Marinakis, T.2
Repa, C.3
Kouraklis-Symeonidis, A.4
Vlacha, V.5
Anagnostopoulos, N.6
Zoumbos, N.7
Symeonidis, A.8
-
96
-
-
34250312047
-
Risk of malignant disease among 1525 adult male US veterans with Gaucher disease
-
Landgren, O., Turesson, I., Gridley, G., and Caporaso, N. E. (2007) Risk of malignant disease among 1525 adult male US veterans with Gaucher disease, Arch. Int. Med., 167, 1189-1194.
-
(2007)
Arch. Int. Med.
, vol.167
, pp. 1189-1194
-
-
Landgren, O.1
Turesson, I.2
Gridley, G.3
Caporaso, N.E.4
-
97
-
-
34249977819
-
High incidence of autoantibodies in Fabry disease patients
-
1:CAS:528:DC%2BD2sXmtVGitrw%3D 17458709
-
Martinez, P., Aggio, M., and Rozenfeld, P. (2007) High incidence of autoantibodies in Fabry disease patients, J. Inherit. Metab. Dis., 30, 365-369.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 365-369
-
-
Martinez, P.1
Aggio, M.2
Rozenfeld, P.3
-
98
-
-
62549128153
-
Critical roles of lysosomal acid lipase in T cells development and function
-
1:CAS:528:DC%2BD1MXjs1WgsrY%3D 19179613
-
Qu, P., Du, H., Wikes, D. S., and Yan, C. (2009) Critical roles of lysosomal acid lipase in T cells development and function, Am. J. Pathol., 174, 944-956.
-
(2009)
Am. J. Pathol.
, vol.174
, pp. 944-956
-
-
Qu, P.1
Du, H.2
Wikes, D.S.3
Yan, C.4
-
99
-
-
1342268315
-
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses
-
1:CAS:528:DC%2BD2cXmsVyrtw%3D%3D 14722612
-
Yamaguchi, A., Katsuyama, K., Nagahama, K., Takai, T., Aoki, I., and Yamanaka, S. (2004) Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses, J. Clin. Invest., 113, 200-208.
-
(2004)
J. Clin. Invest.
, vol.113
, pp. 200-208
-
-
Yamaguchi, A.1
Katsuyama, K.2
Nagahama, K.3
Takai, T.4
Aoki, I.5
Yamanaka, S.6
-
100
-
-
38649109427
-
Role of lysosomal enzyme β-hexosaminidase in the control of mycobacteria infection
-
1:CAS:528:DC%2BD1cXpvFarsw%3D%3D 18180457
-
Koo, I. C., Ohol, Y. M., Wu, P., Morisaki, J. H., Cox, J. S., and Brown, E. J. (2008) Role of lysosomal enzyme β-hexosaminidase in the control of mycobacteria infection, Proc. Natl. Acad. Sci. USA, 105, 710-715.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 710-715
-
-
Koo, I.C.1
Ohol, Y.M.2
Wu, P.3
Morisaki, J.H.4
Cox, J.S.5
Brown, E.J.6
-
101
-
-
37249025083
-
Autonomic denervation of lymphoid organs lead to epigenetic immune atrophy of a mouse model of Krabbe disease
-
1:CAS:528:DC%2BD1cXmtl0%3D 18077684
-
Galbiati, P., Basso, V., Cantuti, L., Givorgi, M. I., Lopez-Rosas, A., Perez, N., Vasu, C., Cao, H., van Breeman, R., Mondino, A., and Bongarzone, E. R. (2007) Autonomic denervation of lymphoid organs lead to epigenetic immune atrophy of a mouse model of Krabbe disease, J. Neurosci., 27, 13730-13738.
-
(2007)
J. Neurosci.
, vol.27
, pp. 13730-13738
-
-
Galbiati, P.1
Basso, V.2
Cantuti, L.3
Givorgi, M.I.4
Lopez-Rosas, A.5
Perez, N.6
Vasu, C.7
Cao, H.8
Van Breeman, R.9
Mondino, A.10
Bongarzone, E.R.11
-
102
-
-
0345505643
-
Severe impairment in early host defense against Listeria monocytogenes in mice deficient in sphingomyelinase
-
Utermohlen, O., Karow, U., Lohler, J., and Kronke, M. (2003) Severe impairment in early host defense against Listeria monocytogenes in mice deficient in sphingomyelinase, J. Immunol., 170, 2521-2628.
-
(2003)
J. Immunol.
, vol.170
, pp. 2521-2628
-
-
Utermohlen, O.1
Karow, U.2
Lohler, J.3
Kronke, M.4
-
103
-
-
33750701865
-
Acid sphingomyelinase deficiency increased susceptibility to fetal alpha virus encephalomyelitis
-
1:CAS:528:DC%2BD28Xht1Khur3F 16943298
-
Ng, C. G., and Griffin, D. F. (2006) Acid sphingomyelinase deficiency increased susceptibility to fetal alpha virus encephalomyelitis, J. Virol., 80, 10989-10999.
-
(2006)
J. Virol.
, vol.80
, pp. 10989-10999
-
-
Ng, C.G.1
Griffin, D.F.2
-
104
-
-
34249977819
-
High incidence of autoantibodies in Fabry disease patients
-
1:CAS:528:DC%2BD2sXmtVGitrw%3D 17458709
-
Martinez, P., Aggio, M., and Rozenfeld, P. (2007) High incidence of autoantibodies in Fabry disease patients, J. Inherit. Metab. Dis., 30, 365-369.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 365-369
-
-
Martinez, P.1
Aggio, M.2
Rozenfeld, P.3
-
105
-
-
84879694126
-
Characterization of the T cell and dendritic cell repertoire in a marine model of mucopolysaccharidosis i (MPS I)
-
1:CAS:528:DC%2BC3sXjvVals7c%3D 22773246
-
Archer, L. D., Langford-Smith, K. J., Critchley, W. R., Bigger, B. W., and Fildes, J. F. (2013) Characterization of the T cell and dendritic cell repertoire in a marine model of mucopolysaccharidosis I (MPS I), J. Inherit. Metab. Dis., 36, 257-262.
-
(2013)
J. Inherit. Metab. Dis.
, vol.36
, pp. 257-262
-
-
Archer, L.D.1
Langford-Smith, K.J.2
Critchley, W.R.3
Bigger, B.W.4
Fildes, J.F.5
-
106
-
-
80052246894
-
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease
-
1:CAS:528:DC%2BC3MXhtVOktL7K 21757691
-
Bowden, K. L., Bilbey, N. J., Bilawchuk, L. M., Boadu, E., Sidhu, R., Ory, D. S., Du, H., Chan, T., and Francis, G. A. (2011) Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease, J. Biol. Chem., 286, 30624-30635.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 30624-30635
-
-
Bowden, K.L.1
Bilbey, N.J.2
Bilawchuk, L.M.3
Boadu, E.4
Sidhu, R.5
Ory, D.S.6
Du, H.7
Chan, T.8
Francis, G.A.9
-
107
-
-
0028331151
-
Epidermal consequence of β-glucocerebroside deficiency: Permeability barrier alteration for skin lesions in type 2 Gaucher disease
-
Holleran, W. M., Ginns, E. I., Menon, G., Grudmann, J. U., Fartasch, M., Elias, P. M., and Sidransky, E. (2000) Epidermal consequence of β-glucocerebroside deficiency: permeability barrier alteration for skin lesions in type 2 Gaucher disease, J. Clin. Invest., 93, 1756-1764.
-
(2000)
J. Clin. Invest.
, vol.93
, pp. 1756-1764
-
-
Holleran, W.M.1
Ginns, E.I.2
Menon, G.3
Grudmann, J.U.4
Fartasch, M.5
Elias, P.M.6
Sidransky, E.7
-
108
-
-
9044236528
-
Epidermal abnormalities may distinguish type 2 from type 1 and 3 of Gaucher disease
-
Sideransky, E., Fartasch, M., Lee, R. E., Metaly, L. A., Abeilla, S., Zimran, A., Gao, W., Elias, P. M., Ginns, E., and Holleren, W. M. (1996) Epidermal abnormalities may distinguish type 2 from type 1 and 3 of Gaucher disease, Pediatr. Res., 39, 134-141.
-
(1996)
Pediatr. Res.
, vol.39
, pp. 134-141
-
-
Sideransky, E.1
Fartasch, M.2
Lee, R.E.3
Metaly, L.A.4
Abeilla, S.5
Zimran, A.6
Gao, W.7
Elias, P.M.8
Ginns, E.9
Holleren, W.M.10
-
109
-
-
81855177025
-
Arylsulfatase A deficiency causes seminolipid accumulation and lysosomal storage in Sertoli cells
-
Xu, H., Kongmanas, K., Kadunganattil, S., Smith, C. E., Rupar, T., Goto-Inoue, N., Hermo, L., Faull, K. F., and Tanphaichitr, N. (2001) Arylsulfatase A deficiency causes seminolipid accumulation and lysosomal storage in Sertoli cells, J. Lipid Res., 52, 2187-2197.
-
(2001)
J. Lipid Res.
, vol.52
, pp. 2187-2197
-
-
Xu, H.1
Kongmanas, K.2
Kadunganattil, S.3
Smith, C.E.4
Rupar, T.5
Goto-Inoue, N.6
Hermo, L.7
Faull, K.F.8
Tanphaichitr, N.9
-
110
-
-
0036731938
-
Reproductive pathology and sperm physiology in acid sphingomyelinase- deficient mice
-
1:CAS:528:DC%2BD38XnsFOis7s%3D 12213735
-
Butler, A., He, X., Gordon, R. E., Wu, H. S., Gat, S., and Schuchman, E. H. (2002) Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice, Am. J. Pathol., 161, 1061-1075.
-
(2002)
Am. J. Pathol.
, vol.161
, pp. 1061-1075
-
-
Butler, A.1
He, X.2
Gordon, R.E.3
Wu, H.S.4
Gat, S.5
Schuchman, E.H.6
-
111
-
-
33751512520
-
Endocrine dysfunction in patients with Fabry disease
-
1:CAS:528:DC%2BD28Xht1Whur3I 16926253
-
Faggiano, A., Pisani, A., Milone, F., Gaccione, A., Filippella, M., Santoro, A., Vallone, G., Tortora, F., Sabbatini, M., Spinelli, L., Lombardi, G., Cianciaruso, B., and Colao, A. (2006) Endocrine dysfunction in patients with Fabry disease, J. Clin. Endocrinol. Metab., 91, 4319-4325.
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, pp. 4319-4325
-
-
Faggiano, A.1
Pisani, A.2
Milone, F.3
Gaccione, A.4
Filippella, M.5
Santoro, A.6
Vallone, G.7
Tortora, F.8
Sabbatini, M.9
Spinelli, L.10
Lombardi, G.11
Cianciaruso, B.12
Colao, A.13
-
112
-
-
34347206385
-
Azoospermia as a new feature of Fabry disease
-
17261284
-
Papaxanthos-Roche, A., Deminiere, C., Bauduer, F., Hocke, C., Mayer, G., and Lacombe, D. (2007) Azoospermia as a new feature of Fabry disease, Fertil. Steril., 88, e15-18.
-
(2007)
Fertil. Steril.
, vol.88
, pp. 15-18
-
-
Papaxanthos-Roche, A.1
Deminiere, C.2
Bauduer, F.3
Hocke, C.4
Mayer, G.5
Lacombe, D.6
-
113
-
-
77949915681
-
Fertility status in male cystinosis patients treated with cystamine
-
1:CAS:528:DC%2BC3cXlsVOisLc%3D 19217094
-
Besouw, M. T., Kremer, J. A. M., Janssen, M. C. H., and Levtchenko, E. N. (2010) Fertility status in male cystinosis patients treated with cystamine, Fertil. Steril., 93, 1880-1883.
-
(2010)
Fertil. Steril.
, vol.93
, pp. 1880-1883
-
-
Besouw, M.T.1
Kremer, J.A.M.2
Janssen, M.C.H.3
Levtchenko, E.N.4
-
114
-
-
0031660015
-
Deficiency of fucosidase results in acrosomal dysgenesis and impaired sperm maturation
-
1:CAS:528:DyaK1cXlvVyrsbs%3D
-
Veeramachaneni, D. N. R., Smith, M. O., and Ellinwood, N. M. (1998) Deficiency of fucosidase results in acrosomal dysgenesis and impaired sperm maturation, J. Adrenol., 19, 444-449.
-
(1998)
J. Adrenol.
, vol.19
, pp. 444-449
-
-
Veeramachaneni, D.N.R.1
Smith, M.O.2
Ellinwood, N.M.3
-
115
-
-
34247554811
-
Crypticity and functional distribution of the membrane associated α-L-fucosidase of human sperm
-
1:CAS:528:DC%2BD2sXltVGrtL0%3D 17133604
-
Venditti, J. J., Donigan, K. A., and Bean, B. S. (2007) Crypticity and functional distribution of the membrane associated α-L-fucosidase of human sperm, Mol. Reprod. Dev., 74, 758-765.
-
(2007)
Mol. Reprod. Dev.
, vol.74
, pp. 758-765
-
-
Venditti, J.J.1
Donigan, K.A.2
Bean, B.S.3
-
116
-
-
84856213604
-
Autophagy and mitochondria in Pompe disease: Nothing is so new as what as long be forgotten
-
22253254
-
Raben, N., Wong, A., Ralston, E., and Myerowitz, R. (2012) Autophagy and mitochondria in Pompe disease: nothing is so new as what as long be forgotten, Am. J. Med. Genet., 160C, 13-21.
-
(2012)
Am. J. Med. Genet.
, vol.160
, pp. 13-21
-
-
Raben, N.1
Wong, A.2
Ralston, E.3
Myerowitz, R.4
-
117
-
-
84859262478
-
Impaired parkin-mediated mitochondrial targeting differentially contributes to tissue pathology in lysosomal storage diseases
-
22215441
-
De Pablo-Latorre, R., Saide, A., Polishhuck, E. V., Nusco, E., Fraldi, A., and Ballabio, A. (2012) Impaired parkin-mediated mitochondrial targeting differentially contributes to tissue pathology in lysosomal storage diseases, Hum. Mol. Genet., 21, 1770-1778.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1770-1778
-
-
De Pablo-Latorre, R.1
Saide, A.2
Polishhuck, E.V.3
Nusco, E.4
Fraldi, A.5
Ballabio, A.6
-
118
-
-
0001437175
-
-
8th Edn. (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds.) McGraw-Hill, NY
-
Thomas, G. H. (2001) in The Metabolic & Molecular Bases of Inherited Disease, 8th Edn. (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds.) McGraw-Hill, NY, pp. 3507-3533.
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 3507-3533
-
-
Thomas, G.H.1
-
119
-
-
0023506543
-
Normal collagen fibrils in aspartyl glucosaminuria. Altered dermal ultrastructural in glycoprotein storage disorder
-
1:STN:280:DyaL1c3kt1antw%3D%3D 3132350
-
Nanto-Salonen, K., Larjavam, H., Saamanen, A.-M., Heinio, J., Penttnen, R., Pelliniemi, L. J., and Tammi, M. (1987) Normal collagen fibrils in aspartyl glucosaminuria. Altered dermal ultrastructural in glycoprotein storage disorder, Connect. Tissue Res., 16, 367-376.
-
(1987)
Connect. Tissue Res.
, vol.16
, pp. 367-376
-
-
Nanto-Salonen, K.1
Larjavam, H.2
Saamanen, A.-M.3
Heinio, J.4
Penttnen, R.5
Pelliniemi, L.J.6
Tammi, M.7
-
120
-
-
0000286154
-
-
8 Edn. (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds.) McGraw-Hill, NY
-
Aula, P., and Gahl, W. A. (2001) in The Metabolic & Molecular Bases of Inherited Disease, 8 Edn. (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds.) McGraw-Hill, NY, pp. 5109-5120.
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 5109-5120
-
-
Aula, P.1
Gahl, W.A.2
-
121
-
-
0021126860
-
Normal collagen fibrils in aspartylglucosaminuria. Altered dermal ultrastructural in glycoprotein storage disorder
-
1:STN:280:DyaL2M%2FhtFWnsA%3D%3D 6592395
-
Nanto-Salonen, K., Pelliniemi, L. J., Auito, S., Kivimaki, T. M., Rampola, J., and Penttinen, R. (1984) Normal collagen fibrils in aspartylglucosaminuria. Altered dermal ultrastructural in glycoprotein storage disorder, Lab. Invest., 51, 464-468.
-
(1984)
Lab. Invest.
, vol.51
, pp. 464-468
-
-
Nanto-Salonen, K.1
Pelliniemi, L.J.2
Auito, S.3
Kivimaki, T.M.4
Rampola, J.5
Penttinen, R.6
-
122
-
-
0028049080
-
Fibroblasts expression of collagen and proteoglycan is altered in aspartylglucosaminuria, a lysosomal storage disease
-
1:STN:280:DyaK2c7ks1Whtw%3D%3D 8312372
-
Maatta, A., Jarvelainen, H. T., Nelimarkks, L. O., and Penttinen, R. P. (1994) Fibroblasts expression of collagen and proteoglycan is altered in aspartylglucosaminuria, a lysosomal storage disease, Biochim. Biophys. Acta, 1225, 264-270.
-
(1994)
Biochim. Biophys. Acta
, vol.1225
, pp. 264-270
-
-
Maatta, A.1
Jarvelainen, H.T.2
Nelimarkks, L.O.3
Penttinen, R.P.4
-
123
-
-
0022375325
-
Disturbed metabolism of copper and zinc in aspartylglucosaminuria: Possible involvement with connective tissue
-
1:STN:280:DyaL2s%2Fmt1GjsA%3D%3D 3939546
-
Nanto-Salonen, K., Halme, T., Penttinen, R., Langevelde, F. V., Dis, R. D., and Alfthan, G. (1985) Disturbed metabolism of copper and zinc in aspartylglucosaminuria: possible involvement with connective tissue, J. Inherit. Metab. Dis., 8, 212-218.
-
(1985)
J. Inherit. Metab. Dis.
, vol.8
, pp. 212-218
-
-
Nanto-Salonen, K.1
Halme, T.2
Penttinen, R.3
Langevelde, F.V.4
Dis, R.D.5
Alfthan, G.6
-
124
-
-
0000869162
-
-
8th Edn. (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds.) McGraw-Hill, NY
-
Neufeld, E. F., and Munzer, J. (2001) in The Metabolic & Molecular Bases of Inherited Disease, 8th Edn. (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds.) McGraw-Hill, NY, pp. 3421-3452.
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Munzer, J.2
-
125
-
-
0036744549
-
Dermatan sulfate: New functions from old glycosaminoglycans
-
1:CAS:528:DC%2BD38Xnt1Gnur4%3D 12213784
-
Trowbridge, J. M., and Gallo, R. I. (2002) Dermatan sulfate: new functions from old glycosaminoglycans, Glycobiology, 12, 117R-125R.
-
(2002)
Glycobiology
, vol.12
-
-
Trowbridge, J.M.1
Gallo, R.I.2
-
126
-
-
0038575444
-
Functional structure and composition of the extracellular matrix
-
1:CAS:528:DC%2BD3sXnvF2ns7o%3D 12845610
-
Bosman, F. T., and Stamenkovic, I. (2003) Functional structure and composition of the extracellular matrix, J. Pathol., 200, 423-428.
-
(2003)
J. Pathol.
, vol.200
, pp. 423-428
-
-
Bosman, F.T.1
Stamenkovic, I.2
-
127
-
-
0032851160
-
Functions of cell surface heparin sulfate proteoglycans
-
Bernfield, M., Gotte, M., Park, P. W., Reizes, O., Fitzgeraid, M. L., Lincecum, J., and Zako, M. (1999) Functions of cell surface heparin sulfate proteoglycans, Annu. Rev. Biochem., 68, 726-777.
-
(1999)
Annu. Rev. Biochem.
, vol.68
, pp. 726-777
-
-
Bernfield, M.1
Gotte, M.2
Park, P.W.3
Reizes, O.4
Fitzgeraid, M.L.5
Lincecum, J.6
Zako, M.7
-
128
-
-
0034756901
-
Interactions of cartilage proteoglycans with collagen are determined by their structures
-
1:CAS:528:DC%2BD3MXotFSlt7o%3D 11698112
-
Vynios, D. H., Papageorgakopoulou, N., Sazakli, H., and Tsiganos, C. P. (2001) Interactions of cartilage proteoglycans with collagen are determined by their structures, Biochimie, 83, 899-906.
-
(2001)
Biochimie
, vol.83
, pp. 899-906
-
-
Vynios, D.H.1
Papageorgakopoulou, N.2
Sazakli, H.3
Tsiganos, C.P.4
-
129
-
-
84906271967
-
-
(Graner, A., and Klintworth, G. K., eds.) 2nd Edn., Marcel Dekker Inc, NY
-
Klintworth, G. K. (1995) in Pathobiology of Ocular Diseases: a Dynamic Approach (Graner, A., and Klintworth, G. K., eds.) 2nd Edn., Marcel Dekker Inc, NY, pp. 855-892.
-
(1995)
Pathobiology of Ocular Diseases: A Dynamic Approach
, pp. 855-892
-
-
Klintworth, G.K.1
-
130
-
-
0037370196
-
Cell-matrix and cell-cell interaction during corneal epithelial wound healing
-
1:CAS:528:DC%2BD3sXhsVChsbc%3D
-
Suzuki, K., Saito, J., Yanai, R., Yamada, N., Chikama, T-I., Seki, K., and Nishida, T. (2003) Cell-matrix and cell-cell interaction during corneal epithelial wound healing, Prog. Retinal Eye Res., 22, 113-133.
-
(2003)
Prog. Retinal Eye Res.
, vol.22
, pp. 113-133
-
-
Suzuki, K.1
Saito, J.2
Yanai, R.3
Yamada, N.4
Chikama, T.-I.5
Seki, K.6
Nishida, T.7
-
131
-
-
0033057414
-
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III, and VI
-
1:CAS:528:DyaK1MXivFOrsrY%3D 10328965
-
Alroy, J., Haskins, M., and Birk, D. E. (1999) Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III, and VI, Exp. Eye Res., 68, 523-530.
-
(1999)
Exp. Eye Res.
, vol.68
, pp. 523-530
-
-
Alroy, J.1
Haskins, M.2
Birk, D.E.3
-
132
-
-
80054781588
-
Large proteoglycan complexes and disturbed collagen architecture is in corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome)
-
Young, R. D., Liskova, P., Pinali, C., Palka, B. P., Palos, M., Jirsova, K., Hrdlickova, E., Tesarova, M., Elleder, M., Zeman, J., Meek, K. M., Knupp, C., and Quantock, A. J. (2001) Large proteoglycan complexes and disturbed collagen architecture is in corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome), Invest. Ophthalmol. Vis. Sci., 52, 6720-6728.
-
(2001)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 6720-6728
-
-
Young, R.D.1
Liskova, P.2
Pinali, C.3
Palka, B.P.4
Palos, M.5
Jirsova, K.6
Hrdlickova, E.7
Tesarova, M.8
Elleder, M.9
Zeman, J.10
Meek, K.M.11
Knupp, C.12
Quantock, A.J.13
-
133
-
-
77955842202
-
The molecular basis of corneal transparency
-
1:CAS:528:DC%2BC3cXhtVKht7bE 20599432
-
Hassell, J. R., and Birk, D. E. (2010) The molecular basis of corneal transparency, Exp. Eye Res., 91, 326-335.
-
(2010)
Exp. Eye Res.
, vol.91
, pp. 326-335
-
-
Hassell, J.R.1
Birk, D.E.2
-
134
-
-
0037144523
-
Decorin binds to a narrow region of the epidermal growth factor (EGF) receptor, partially overlapping but distinct EGF-binding epitope
-
1:CAS:528:DC%2BD38Xnt1Wlt7c%3D 12105206
-
Santra, M., Reed, C. C., and Iozzo, R. V. (2002) Decorin binds to a narrow region of the epidermal growth factor (EGF) receptor, partially overlapping but distinct EGF-binding epitope, J. Biol. Chem., 277, 35671-35681.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 35671-35681
-
-
Santra, M.1
Reed, C.C.2
Iozzo, R.V.3
-
135
-
-
84906269458
-
Expression of annexin and decorin in corneas of cats with mucopolysaccharidosis VI
-
Mura, C., Villa, O., Haskins, M., and Alroy, J. (2006) Expression of annexin and decorin in corneas of cats with mucopolysaccharidosis VI, Virchows Arch., 448, 681A.
-
(2006)
Virchows Arch.
, vol.448
-
-
Mura, C.1
Villa, O.2
Haskins, M.3
Alroy, J.4
-
136
-
-
79952782111
-
Decorin accumulation contributes to stromal opacities in congenital corneal dystrophy
-
20484579
-
Bredrup, C., Stang, E., Bruland, O., Palka, B. P., Young, R. D., Haavik, J., Knappskog, P. M., and Rodahl, E. (2010) Decorin accumulation contributes to stromal opacities in congenital corneal dystrophy, Invest. Ophthalmol. Vis. Sci., 51, 5578-5582.
-
(2010)
Invest. Ophthalmol. Vis. Sci.
, vol.51
, pp. 5578-5582
-
-
Bredrup, C.1
Stang, E.2
Bruland, O.3
Palka, B.P.4
Young, R.D.5
Haavik, J.6
Knappskog, P.M.7
Rodahl, E.8
-
137
-
-
84906260665
-
Lens-like expression of crystallins in the corneas of cats with mucopolysaccharidosis i and VI
-
Villa, O., Alroy, J., and Haskins, M. (2005) Lens-like expression of crystallins in the corneas of cats with mucopolysaccharidosis I and VI, Lab. Invest., 85, 301A.
-
(2005)
Lab. Invest.
, vol.85
-
-
Villa, O.1
Alroy, J.2
Haskins, M.3
-
138
-
-
33845425645
-
Crystallins in the eye: Function and pathology
-
1:CAS:528:DC%2BD28XhtlaqsrjF
-
Andley, U. P. (2007) Crystallins in the eye: function and pathology, Progr. Retina Eye Res., 26, 78-98.
-
(2007)
Progr. Retina Eye Res.
, vol.26
, pp. 78-98
-
-
Andley, U.P.1
-
139
-
-
44649182096
-
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis i mice
-
1:CAS:528:DC%2BD1cXnt1eisbg%3D 18479957
-
Ma, X., Tittiger, M., Kuntsen, R. H., Kovacs, A., Schaller, L., Mechan, 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
Kuntsen, R.H.3
Kovacs, A.4
Schaller, L.5
Mechan, R.P.6
Ponder, K.P.7
-
140
-
-
84869404265
-
Effect of cathepsins deficiency in intracellular junction proteins, luminal mucus layers, and extracellular matrix constituents in mouse colon
-
1:CAS:528:DC%2BC3sXns1Wrsg%3D%3D 23152408
-
Arampatzidou, M., Schutte, A., Hansson, G. C., Saftig P., and Brix, K. (2012) Effect of cathepsins deficiency in intracellular junction proteins, luminal mucus layers, and extracellular matrix constituents in mouse colon, Biol. Chem., 393, 1391-1403.
-
(2012)
Biol. Chem.
, vol.393
, pp. 1391-1403
-
-
Arampatzidou, M.1
Schutte, A.2
Hansson, G.C.3
Saftig, P.4
Brix, K.5
-
141
-
-
0032859323
-
Cathepsin K knockout mice develop osteopetrosis due to a deficient in matrix degradation but not demineralization
-
1:CAS:528:DyaK1MXmsFOis7c%3D 10491212
-
Gowen, M., Lanzer, F., Dodds, R., Kapadia, R., Field, J., Tavaria, M., Bertocello, I., Drake, F., Zavarselk, S., Tellis, I., Hertzog, P., Debouck, C., and Kola, I. (1999) Cathepsin K knockout mice develop osteopetrosis due to a deficient in matrix degradation but not demineralization, J. Bone Miner. Res., 14, 1654-1663.
-
(1999)
J. Bone Miner. Res.
, vol.14
, pp. 1654-1663
-
-
Gowen, M.1
Lanzer, F.2
Dodds, R.3
Kapadia, R.4
Field, J.5
Tavaria, M.6
Bertocello, I.7
Drake, F.8
Zavarselk, S.9
Tellis, I.10
Hertzog, P.11
Debouck, C.12
Kola, I.13
-
142
-
-
84906255103
-
Mechanism of shortened bones in mucopolysaccharidosis VII
-
1:CAS:528:DC%2BC3cXjt1elsbw%3D 20044292
-
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) Mechanism of shortened bones in mucopolysaccharidosis VII, Mol. Genet. Metab., 99, 396-704.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 396-704
-
-
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
-
143
-
-
73649099843
-
Glycosaminoglycan-mediated loss of cathepsin K collagenous activity in MPS i contributes to osteoclast and growth plate abnormalities
-
1:CAS:528:DC%2BC3cXhslSjtb4%3D 19834056
-
Wilson, S., Hashamiyan, S., Clarke, L., Saftig, P., Mort, J., Dejica, V. M., and Bromme, D. (2009) Glycosaminoglycan-mediated loss of cathepsin K collagenous activity in MPS I contributes to osteoclast and growth plate abnormalities, Am. J. Pathol., 175, 2053-2062.
-
(2009)
Am. J. Pathol.
, vol.175
, pp. 2053-2062
-
-
Wilson, S.1
Hashamiyan, S.2
Clarke, L.3
Saftig, P.4
Mort, J.5
Dejica, V.M.6
Bromme, D.7
-
144
-
-
67349116348
-
Deficiency of N-acetylgalactosmine-6-sulfate sulfatase in collage perturbation in cartilage of Morquio syndrome A patients
-
1:CAS:528:DC%2BD1MXntVGit74%3D 19394256
-
Bank, R. A., Groener, J. E. M., van Gemund, J. J., Maaswinkel, P. D., Hoeben, K. A., Schut, H. A., and Everts, V. (2009) Deficiency of N-acetylgalactosmine-6-sulfate sulfatase in collage perturbation in cartilage of Morquio syndrome A patients, Mol. Genet. Metab., 97, 196-201.
-
(2009)
Mol. Genet. Metab.
, vol.97
, pp. 196-201
-
-
Bank, R.A.1
Groener, J.E.M.2
Van Gemund, J.J.3
Maaswinkel, P.D.4
Hoeben, K.A.5
Schut, H.A.6
Everts, V.7
-
145
-
-
0000726723
-
GM1-gangliosidase deficiency (GM1-gangliosidosis): GM1-gangliosidosis and Morquio B disease
-
C. R Scriver A. L Beaudet W. S Sly D. Valle B. Childs K. W Kinzler B. Vogelstein (eds) 8 Edn
-
Suzuki, Y., Oshima, A., and Nanba, E. (2001) GM1-gangliosidase deficiency (GM1-gangliosidosis): GM1-gangliosidosis and Morquio B disease, in The Metabolic & Molecular Bases of Inherited Diseases, 8 Edn. (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds.) McGraw-Hill, NY, pp. 3775-3809.
-
(2001)
The Metabolic & Molecular Bases of Inherited Diseases
, pp. 3775-3809
-
-
Suzuki, Y.1
Oshima, A.2
Nanba, E.3
-
146
-
-
0029025305
-
Retarded bone formation in GM1-gangliosidosis: A study of infantile form and comparison with canine model
-
1:STN:280:DyaK2M3ns12mtg%3D%3D 7757284
-
Alroy, J., Knowles, K., Schelling, S. H., Kaye, E. M., and Rosenberg, A. E. (1995) Retarded bone formation in GM1-gangliosidosis: a study of infantile form and comparison with canine model, Virchows Arch., 426, 141-148.
-
(1995)
Virchows Arch.
, vol.426
, pp. 141-148
-
-
Alroy, J.1
Knowles, K.2
Schelling, S.H.3
Kaye, E.M.4
Rosenberg, A.E.5
-
147
-
-
67349168769
-
Upregulation of elastase activity in aorta in mucopolysaccharidosis i and VII dogs may be due to increased cytokine expression
-
1:CAS:528:DC%2BD1MXntVGit78%3D 19375967
-
Metcalf, J. A., Zhang, Y., Hilton, M. J., Long, F., and Ponder, K. P. (2009) Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression, 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
-
148
-
-
84866155359
-
Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII
-
1:CAS:528:DC%2BC38Xls1ensLc%3D 22513347
-
Smith, L. J., Baldo, G., Wu, S., Liu, Y., Whyte, M. P., Giugliani, R., Elliott, D. M., Haskin, M. E., and Ponder, K. P. (2012) Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII, Mol. Genet. Metab., 107, 153-160.
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 153-160
-
-
Smith, L.J.1
Baldo, G.2
Wu, S.3
Liu, Y.4
Whyte, M.P.5
Giugliani, R.6
Elliott, D.M.7
Haskin, M.E.8
Ponder, K.P.9
-
149
-
-
77949801547
-
Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII
-
1:CAS:528:DC%2BC3cXmtVCjtbo%3D
-
Smith, L. J., Martinm, J. T., Szezczesny, S. E., Ponder, K. P., Haskin, M. E., and Eliot, D. M. (2010) Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII, J. Orthopaed. Res., 28, 616-622.
-
(2010)
J. Orthopaed. Res.
, vol.28
, pp. 616-622
-
-
Smith, L.J.1
Martinm, J.T.2
Szezczesny, S.E.3
Ponder, K.P.4
Haskin, M.E.5
Eliot, D.M.6
-
150
-
-
38149018555
-
Immune system regularities in lysosomal disorders
-
1:CAS:528:DC%2BD1cXislGjtrs%3D 17924126
-
Castaneda, J. A., Lim, M. J., Cooper, J. D., and Pierce, D. A. (2008) Immune system regularities in lysosomal disorders, Acta Neuropathol., 115, 159-174.
-
(2008)
Acta Neuropathol.
, vol.115
, pp. 159-174
-
-
Castaneda, J.A.1
Lim, M.J.2
Cooper, J.D.3
Pierce, D.A.4
-
151
-
-
33846440090
-
Extracellular matrix turn over and disease severity in Anderson-Fabry disease
-
1:CAS:528:DC%2BD2sXnsFyluw%3D%3D 17160618
-
Shah, J. S., Hughes, D. A., Tayebjee, M. H., MacFadyen, R. J., Metha, A. B., and Elliot, P. M. (2007) Extracellular matrix turn over and disease severity in Anderson-Fabry disease, J. Inherit. Metab. Dis., 30, 88-95.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 88-95
-
-
Shah, J.S.1
Hughes, D.A.2
Tayebjee, M.H.3
Macfadyen, R.J.4
Metha, A.B.5
Elliot, P.M.6
-
152
-
-
1942425113
-
New mutation in the PPBG lead to loss of PPCA protein which affects the level of β-galactosidase/neuraminidase complex and EBP-receptor
-
1:CAS:528:DC%2BD2cXjtl2murY%3D 15110321
-
Malvagia, S., Morrone, A., Caciotti, A., Bardelli, T., d'Azzo, A., Ancora, G., Zammarchi, E., and Donati, N. A. (2004) New mutation in the PPBG lead to loss of PPCA protein which affects the level of β-galactosidase/ neuraminidase complex and EBP-receptor, Mol. Genet. Metab., 82, 48-55.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 48-55
-
-
Malvagia, S.1
Morrone, A.2
Caciotti, A.3
Bardelli, T.4
D'Azzo, A.5
Ancora, G.6
Zammarchi, E.7
Donati, N.A.8
-
153
-
-
33645640140
-
Lysosomal sialidase (neuraminidase-1) is targeted the cell surface in a multiprotein complex that facilitates elastic fiber assembly
-
1:CAS:528:DC%2BD28XhtFSmt7c%3D 16314420
-
Hinek, A., Pshezhetsky, A. V., von Itzstein, M., and Starcher, B. (2006) Lysosomal sialidase (neuraminidase-1) is targeted the cell surface in a multiprotein complex that facilitates elastic fiber assembly, J. Biol. Chem., 281, 3698-3710.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 3698-3710
-
-
Hinek, A.1
Pshezhetsky, A.V.2
Von Itzstein, M.3
Starcher, B.4
-
154
-
-
0016817563
-
Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro
-
1:CAS:528:DyaE28Xhtl2rsA%3D%3D 2162
-
Avila, J. A., and Convit, J. (1975) Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro, Biochem. J., 152, 57-64.
-
(1975)
Biochem. J.
, vol.152
, pp. 57-64
-
-
Avila, J.A.1
Convit, J.2
-
155
-
-
84886675222
-
-
(Stirling, J. W., Curry, A., and Eyden, B., eds.) John Wiley & Sons Ltd
-
Alroy, J., Pfannl, R., and Ucci, A. A. (2013) in Diagnostic Electron Microscopy: a Practical Guide to Interpretation and Technique (Stirling, J. W., Curry, A., and Eyden, B., eds.) John Wiley & Sons Ltd, pp. 237-267.
-
(2013)
Diagnostic Electron Microscopy: A Practical Guide to Interpretation and Technique
, pp. 237-267
-
-
Alroy, J.1
Pfannl, R.2
Ucci, A.A.3
-
156
-
-
80051470524
-
2+ homeostasis: Role in pathogenesis of lysosomal storage diseases
-
1:CAS:528:DC%2BC3MXhtVaisLjO 21724254
-
2+ homeostasis: role in pathogenesis of lysosomal storage diseases, Cell Calcium, 50, 200-205.
-
(2011)
Cell Calcium
, vol.50
, pp. 200-205
-
-
Lloyd-Evans, E.1
Platt, F.M.2
-
157
-
-
29144444023
-
Defective calcium homeostasis in the cerebellum of mouse model of Niemann-Pick A disease
-
1:CAS:528:DC%2BD28XhsVKitg%3D%3D 16277603
-
Ginzburg, L., and Futerman, A. H. (2005) Defective calcium homeostasis in the cerebellum of mouse model of Niemann-Pick A disease, J. Neurochem., 95, 1619-1628.
-
(2005)
J. Neurochem.
, vol.95
, pp. 1619-1628
-
-
Ginzburg, L.1
Futerman, A.H.2
-
158
-
-
0038607434
-
Glycosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms
-
1:CAS:528:DC%2BD3sXkslygtrY%3D 12709427
-
Lloyd-Evans, E., Pelled, D., Riebeling, C., Bodennec, J., D'Morgan, A., Waller, H., Schiffmann, R., and Futerman, A. H. (2003) Glycosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms, J. Biol. Chem., 278, 23594-23599.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 23594-23599
-
-
Lloyd-Evans, E.1
Pelled, D.2
Riebeling, C.3
Bodennec, J.4
D'Morgan, A.5
Waller, H.6
Schiffmann, R.7
Futerman, A.H.8
-
159
-
-
77549084219
-
Aberrant Ca2+ handling in lysosomal storage disorders
-
Kiselyov, K., Yamaguchi, S., Lyons, C. W., and Muallem, S. (2010) Aberrant Ca2+ handling in lysosomal storage disorders, Cell Calcium, 7, 103-111.
-
(2010)
Cell Calcium
, vol.7
, pp. 103-111
-
-
Kiselyov, K.1
Yamaguchi, S.2
Lyons, C.W.3
Muallem, S.4
-
160
-
-
0036176571
-
Mitochondrial dysfunction in the neuronal ceroid lipofuscinosis (Batten disease)
-
1:CAS:528:DC%2BD38XhtFyktbs%3D 11850114
-
Jolly, R. D., Brown, S., Das, A. M., and Walkley, S. U. (2002) Mitochondrial dysfunction in the neuronal ceroid lipofuscinosis (Batten disease), Neurochem. Int., 40, 565-571.
-
(2002)
Neurochem. Int.
, vol.40
, pp. 565-571
-
-
Jolly, R.D.1
Brown, S.2
Das, A.M.3
Walkley, S.U.4
-
161
-
-
33846022005
-
Mitochondrial aberrations in mucolipidosis type IV
-
Jenning, J. J., Jr., Zu, J-H., Rbaibi, Y., Lao, X., Chu, C. T., and Kislov, K. (2006) Mitochondrial aberrations in mucolipidosis type IV, J. Biol. Chem., 281, 39041-39050.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 39041-39050
-
-
Jenning Jr., J.J.1
Zu, J.-H.2
Rbaibi, Y.3
Lao, X.4
Chu, C.T.5
Kislov, K.6
-
162
-
-
34547485369
-
TRPML and lysosomal function
-
1:CAS:528:DC%2BD2sXosFOjtLw%3D 17306511
-
Zeevi, D. A., Frumkin, A., and Bach, G. (2007) TRPML and lysosomal function, Biochim. Biophys. Acta, 1772, 851-858.
-
(2007)
Biochim. Biophys. Acta
, vol.1772
, pp. 851-858
-
-
Zeevi, D.A.1
Frumkin, A.2
Bach, G.3
-
165
-
-
40149095757
-
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis
-
18254660
-
Mu, T-W., Fowler, D. M., and Kelly, J. W. (2008) Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis, PLoS Biol., 6, e26.
-
(2008)
PLoS Biol.
, vol.6
, pp. 26
-
-
Mu, T.-W.1
Fowler, D.M.2
Kelly, J.W.3
-
166
-
-
84862602473
-
Autophagy in lysosomal storage disorders
-
1:CAS:528:DC%2BC38Xht1ChtrzN 22647656
-
Lieberman, A. P., Puertollano, R., Raben, R., Slaugenhaupt, S., Walkley, S. U., and Ballabio, A. (2012) Autophagy in lysosomal storage disorders, Autophagy, 8, 719-730.
-
(2012)
Autophagy
, vol.8
, pp. 719-730
-
-
Lieberman, A.P.1
Puertollano, R.2
Raben, R.3
Slaugenhaupt, S.4
Walkley, S.U.5
Ballabio, A.6
-
167
-
-
68549111280
-
The lysosome and neurodegenerative diseases
-
1:CAS:528:DC%2BD1MXntF2gtr4%3D 19499146
-
Zhang, L., Sheng, R., and Qin, Z. (2009) The lysosome and neurodegenerative diseases, Acta Biochim. Biophys. Sin., 41, 437-445.
-
(2009)
Acta Biochim. Biophys. Sin.
, vol.41
, pp. 437-445
-
-
Zhang, L.1
Sheng, R.2
Qin, Z.3
-
168
-
-
84880258636
-
Glycosidases in normal cell and in hereditary disorders in degradation of carbohydrate-containing compounds
-
Wiederschain, G. Ya. (1977) Glycosidases in normal cell and in hereditary disorders in degradation of carbohydrate-containing compounds, Usp. Biol. Khim., 18, 185-210.
-
(1977)
Usp. Biol. Khim.
, vol.18
, pp. 185-210
-
-
Wiederschain, G.Y.1
-
170
-
-
84880255594
-
Aspects of glycolipid metabolism in normal state and glycolipidoses
-
Wiederschain, G. Ya. (1986) Aspects of glycolipid metabolism in normal state and glycolipidoses, Adv. Biol. Chem. (Moscow), 27, 117-135.
-
(1986)
Adv. Biol. Chem. (Moscow)
, vol.27
, pp. 117-135
-
-
Wiederschain, G.Y.1
-
171
-
-
0028812469
-
Change of isoforms' spectra of α-L-fucosidase from human skin fibroblasts in intracellular storage of nonhydrolyzable substances
-
7827138
-
Beyer, E. M., Ivleva, T. S., Artykova, G. T., and Wiederschain, G. Ya. (1995) Change of isoforms' spectra of α-L-fucosidase from human skin fibroblasts in intracellular storage of nonhydrolyzable substances, Biochim. Biophys. Acta, 1270, 7-11.
-
(1995)
Biochim. Biophys. Acta
, vol.1270
, pp. 7-11
-
-
Beyer, E.M.1
Ivleva, T.S.2
Artykova, G.T.3
Wiederschain, G.Y.4
-
172
-
-
0027940010
-
Reversible rearrangement of vimentin-type intermediate filaments in cultured human skin fibroblasts from patients with lysosomal storage diseases
-
Ivleva, T. S., and Wiederschain, G. Ya. (1994) Reversible rearrangement of vimentin-type intermediate filaments in cultured human skin fibroblasts from patients with lysosomal storage diseases, Cell Biol. Int., 18, 647-653.
-
(1994)
Cell Biol. Int.
, vol.18
, pp. 647-653
-
-
Ivleva, T.S.1
Wiederschain, G.Y.2
-
173
-
-
0027171792
-
Comparative studies of intracellular activity, secretion and multiple forms spectra of human skin fibroblast α-L-fucosidase in the normal and after sucrose load
-
1:CAS:528:DyaK3sXlsFOls7w%3D 8364414
-
Beyer, E. M., Ivleva, T. S., Artykova, G. T., and Wiederschain, G. Ya. (1993) Comparative studies of intracellular activity, secretion and multiple forms spectra of human skin fibroblast α-L-fucosidase in the normal and after sucrose load, Biochem. Mol. Biol. Int., 30, 367-375.
-
(1993)
Biochem. Mol. Biol. Int.
, vol.30
, pp. 367-375
-
-
Beyer, E.M.1
Ivleva, T.S.2
Artykova, G.T.3
Wiederschain, G.Y.4
-
174
-
-
2942687937
-
The cell biology of lysosomal storage disorders
-
1:CAS:528:DC%2BD2cXlt1Ortb8%3D 15232573
-
Futerman, A. H., and van Meer, G. (2004) The cell biology of lysosomal storage disorders, Nat. Rev. Mol. Cell Biol., 5, 554-565.
-
(2004)
Nat. Rev. Mol. Cell Biol.
, vol.5
, pp. 554-565
-
-
Futerman, A.H.1
Van Meer, G.2
-
175
-
-
77951945213
-
Lysosomal storage disease: Revealing lysosomal function and physiology
-
1:CAS:528:DC%2BC3cXot1Gkt7g%3D 20430954
-
Parkinson-Lawrence, E.-L., Shandala, T., Prodoehl, M., Plew, R., Borlace, G., and Brooks, D. (2010) Lysosomal storage disease: revealing lysosomal function and physiology, Physiology, 25, 102-115.
-
(2010)
Physiology
, vol.25
, pp. 102-115
-
-
Parkinson-Lawrence, E.-L.1
Shandala, T.2
Prodoehl, M.3
Plew, R.4
Borlace, G.5
Brooks, D.6
-
176
-
-
33645058934
-
Galsulfase
-
1:CAS:528:DC%2BD28Xhslaqur4%3D
-
Hopwood, J., Bate, G., and Kirkpatrick, P. (2006) Galsulfase, Nat. Rev. Drug Disc., 5, 101-102.
-
(2006)
Nat. Rev. Drug Disc.
, vol.5
, pp. 101-102
-
-
Hopwood, J.1
Bate, G.2
Kirkpatrick, P.3
-
177
-
-
77952057222
-
-
CRC Press, Taylor and Francis Group Boca Raton-London-New York-Washington
-
McGrath, B. M., and Walsh, G. (eds.) (2006) Directory of Therapeutic Enzymes, CRC Press, Taylor and Francis Group, Boca Raton-London-New York-Washington.
-
(2006)
Directory of Therapeutic Enzymes
-
-
McGrath, B.M.1
Walsh, G.2
-
179
-
-
4243797161
-
-
2nd Edn. Humana Press Totowa, NJ, USA
-
Hounsell, E. (ed.) (1998) Glycoanalysis Protocols, 2nd Edn., Humana Press, Totowa, NJ, USA.
-
(1998)
Glycoanalysis Protocols
-
-
Hounsell, E.1
-
181
-
-
84880264994
-
-
Humana Press Springer Science, New York, USA
-
Packer, N. H., and Karlsson, N. G. (eds.) (2009) Glycomics. Methods and Protocols, Humana Press, Springer Science, New York, USA.
-
(2009)
Glycomics. Methods and Protocols
-
-
Packer, N.H.1
Karlsson, N.G.2
-
182
-
-
84880278041
-
-
CRC Press, Taylor and Frances Group Boca Raton, FL, USA
-
Yuriev, E., and Ramsland, P. A. (eds.) (2013) Structural Glycobiology, CRC Press, Taylor and Frances Group, Boca Raton, FL, USA.
-
(2013)
Structural Glycobiology
-
-
Yuriev, E.1
Ramsland, P.A.2
|