-
1
-
-
77049229661
-
Tissue fractionation studies. VI. Intracellular distribution patterns of enzymes in rat-liver tissue
-
de Duve, C., Pressman, B. C., Gianetto, R., Wattiaux, R., and, Appelmans, F., (1955) Tissue fractionation studies. VI. Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem. J. 60, 604-617.
-
(1955)
Biochem. J.
, vol.60
, pp. 604-617
-
-
De Duve, C.1
Pressman, B.C.2
Gianetto, R.3
Wattiaux, R.4
Appelmans, F.5
-
2
-
-
67650711138
-
Mechanisms of endocytosis
-
Doherty, G. J., and, McMahon, H. T., (2009) Mechanisms of endocytosis. Annu. Rev. Biochem. 78, 857-902.
-
(2009)
Annu. Rev. Biochem.
, vol.78
, pp. 857-902
-
-
Doherty, G.J.1
McMahon, H.T.2
-
3
-
-
69449093622
-
Mammalian macroautophagy at a glance
-
Ravikumar, B., Futter, M., Jahreiss, L., Korolchuk, V. I., Lichtenberg, M., et al. (2009) Mammalian macroautophagy at a glance. J. Cell Sci. 122, 1707-1711.
-
(2009)
J. Cell Sci.
, vol.122
, pp. 1707-1711
-
-
Ravikumar, B.1
Futter, M.2
Jahreiss, L.3
Korolchuk, V.I.4
Lichtenberg, M.5
-
4
-
-
79961046765
-
Epidemiology of Lysosomal Storage Diseases: An Overview
-
PharmaGenesis
-
Fuller, M., Meikle, P. J., and, Hopwood, J. J., (2006) Epidemiology of Lysosomal Storage Diseases: An Overview. Chapter 2, Oxford PharmaGenesis, Oxford.
-
(2006)
Chapter
, vol.2
-
-
Fuller, M.1
Meikle, P.J.2
Hopwood, J.J.3
-
5
-
-
0032869009
-
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein
-
Callahan, J. W., (1999) Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein. Biochim. Biophys. Acta Mol. Cell Res. 1455, 85-103.
-
(1999)
Biochim. Biophys. Acta Mol. Cell Res.
, vol.1455
, pp. 85-103
-
-
Callahan, J.W.1
-
6
-
-
83355169702
-
Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases
-
Wang, F., Song, W. S., Brancati, G., and, Segatori, L., (2011) Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases. J. Biol. Chem. 286, 43454-43464.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 43454-43464
-
-
Wang, F.1
Song, W.S.2
Brancati, G.3
Segatori, L.4
-
7
-
-
38849146956
-
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones
-
Wei, H., Kim, S. J., Zhang, Z., Tsai, P. C., Wisniewski, K. E., et al. (2008) ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum. Mol. Genet. 17, 469-477.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 469-477
-
-
Wei, H.1
Kim, S.J.2
Zhang, Z.3
Tsai, P.C.4
Wisniewski, K.E.5
-
8
-
-
84862602473
-
Autophagy in lysosomal storage disorders
-
Lieberman, A. P., Puertollano, R., Raben, N., Slaugenhaupt, S., Walkley, S. U., et al. (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, N.3
Slaugenhaupt, S.4
Walkley, S.U.5
-
9
-
-
44749084730
-
Mitochondrial Ca(2+) homeostasis in lysosomal storage diseases
-
Kiselyov, K., and, Muallem, S., (2008) Mitochondrial Ca(2+) homeostasis in lysosomal storage diseases. Cell Calcium 44, 103-111.
-
(2008)
Cell Calcium
, vol.44
, pp. 103-111
-
-
Kiselyov, K.1
Muallem, S.2
-
10
-
-
4544345160
-
Diagnosis of lysosomal storage disorders: Current techniques and future directions
-
Meikle, P. J., Fietz, M. J., and, Hopwood, J. J., (2004) Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Rev. Mol. Diagn. 4, 677-691.
-
(2004)
Expert Rev. Mol. Diagn.
, vol.4
, pp. 677-691
-
-
Meikle, P.J.1
Fietz, M.J.2
Hopwood, J.J.3
-
11
-
-
77954225471
-
Common and uncommon pathogenic cascades in lysosomal storage diseases
-
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
-
12
-
-
33646703576
-
Gaucher disease: Multiple lessons from a single gene disorder
-
Beutler, E., (2006) Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr. 95, 103-109.
-
(2006)
Acta Paediatr.
, vol.95
, pp. 103-109
-
-
Beutler, E.1
-
13
-
-
0028157443
-
Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression
-
Grace, M. E., Newman, K. M., Scheinker, V., Bergfussman, A., and, Grabowski, G. A., (1994) Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression. J. Biol. Chem. 269, 2283-2291.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 2283-2291
-
-
Grace, M.E.1
Newman, K.M.2
Scheinker, V.3
Bergfussman, A.4
Grabowski, G.A.5
-
14
-
-
23944477827
-
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease
-
Schmitz, M., Alfalah, M., Aerts, J. M. F. G., Naim, H. Y., and, Zimmer, K. P., (2005) Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease. Int. J. Biochem. Cell Biol. 37, 2310-2320.
-
(2005)
Int. J. Biochem. Cell Biol.
, vol.37
, pp. 2310-2320
-
-
Schmitz, M.1
Alfalah, M.2
Aerts, J.M.F.G.3
Naim, H.Y.4
Zimmer, K.P.5
-
15
-
-
78650750313
-
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl
-
Lu, J., Chiang, J., Iyer, R. R., Thompson, E., Kaneski, C. R., et al. (2010) Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. Proc. Natl. Acad. Sci. USA 107, 21665-21670.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 21665-21670
-
-
Lu, J.1
Chiang, J.2
Iyer, R.R.3
Thompson, E.4
Kaneski, C.R.5
-
16
-
-
0037180511
-
Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease
-
Sawkar, A. R., Cheng, W. C., Beutler, E., Wong, C. H., Balch, W. E., et al. (2002) Chemical chaperones increase the cellular activity of N370S β-glucosidase: a therapeutic strategy for Gaucher disease. Proc. Natl. Acad. Sci. USA 99, 15428-15433.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 15428-15433
-
-
Sawkar, A.R.1
Cheng, W.C.2
Beutler, E.3
Wong, C.H.4
Balch, W.E.5
-
17
-
-
50249175120
-
Chemical and biological approaches synergize to ameliorate protein-folding diseases
-
Mu, T. W., Ong, D. S. T., Wang, Y. J., Balch, W. E., Yates, J. R., et al. (2008) Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 134, 769-781.
-
(2008)
Cell
, vol.134
, pp. 769-781
-
-
Mu, T.W.1
Ong, D.S.T.2
Wang, Y.J.3
Balch, W.E.4
Yates, J.R.5
-
18
-
-
84862965909
-
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease
-
Lu, J., Yang, C. Z., Chen, M., Ye, D. Y., Lonser, R. R., et al. (2011) Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc. Natl. Acad. Sci. USA 108, 21200-21205.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 21200-21205
-
-
Lu, J.1
Yang, C.Z.2
Chen, M.3
Ye, D.Y.4
Lonser, R.R.5
-
19
-
-
79951933202
-
2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts
-
2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts. ACS Chem. Biol. 6, 158-168.
-
(2011)
ACS Chem. Biol.
, vol.6
, pp. 158-168
-
-
Wang, F.1
Agnello, G.2
Sotolongo, N.3
Segatori, L.4
-
20
-
-
79959515821
-
2+ homeostasis in Gaucher's disease fibroblasts: A mechanism to rescue mutant glucocerebrosidase
-
2+ homeostasis in Gaucher's disease fibroblasts: a mechanism to rescue mutant glucocerebrosidase. Chem. Biol. 18, 766-776.
-
(2011)
Chem. Biol.
, vol.18
, pp. 766-776
-
-
Wang, F.1
Chou, A.2
Segatori, L.3
-
21
-
-
84876435491
-
Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding
-
Wang, F., and, Segatori, L., (2013) Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding. PLoS One 8, e61418.
-
(2013)
PLoS One
, vol.8
-
-
Wang, F.1
Segatori, L.2
-
22
-
-
77949474575
-
Calcium homeostasis in lysosomal storage diseases
-
Futerman, A. H., (2010) Calcium homeostasis in lysosomal storage diseases. Int. J. Clin. Pharmacol. Ther. 48, S6-S7.
-
(2010)
Int. J. Clin. Pharmacol. Ther.
, vol.48
-
-
Futerman, A.H.1
-
23
-
-
67749122634
-
A gene network regulating lysosomal biogenesis and function
-
Sardiello, M., Palmieri, M., di Ronza, A., Medina, D. L., Valenza, M., 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
-
24
-
-
80052716148
-
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
-
Palmieri, M., Impey, S., Kang, H. J., di Ronza, A., Pelz, C., et al. (2011) Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum. Mol. Genet. 20, 3852-3866.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3852-3866
-
-
Palmieri, M.1
Impey, S.2
Kang, H.J.3
Di Ronza, A.4
Pelz, C.5
-
25
-
-
80052729465
-
Transcriptional activation of lysosomal exocytosis promotes cellular clearance
-
Medina, D. L., Fraldi, A., Bouche, V., Annunziata, F., Mansueto, G., et al. (2011) Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev. Cell 21, 421-430.
-
(2011)
Dev. Cell
, vol.21
, pp. 421-430
-
-
Medina, D.L.1
Fraldi, A.2
Bouche, V.3
Annunziata, F.4
Mansueto, G.5
-
26
-
-
80955177196
-
TFEB links autophagy to lysosomal biogenesis
-
Settembre, C., Di Malta, C., Polito, V. A., Garcia-Arencibia, M., Vetrini, F., et al. (2011) TFEB links autophagy to lysosomal biogenesis. Science 332, 1429-1433.
-
(2011)
Science
, vol.332
, pp. 1429-1433
-
-
Settembre, C.1
Di Malta, C.2
Polito, V.A.3
Garcia-Arencibia, M.4
Vetrini, F.5
-
27
-
-
84877011421
-
TFEB regulates lysosomal proteostasis
-
Song, W. S., Wang, F., Savini, M., Ake, A., Di Ronza, A., et al. (2013) TFEB regulates lysosomal proteostasis. Hum. Mol. Genet. 22, 1994-2009.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 1994-2009
-
-
Song, W.S.1
Wang, F.2
Savini, M.3
Ake, A.4
Di Ronza, A.5
-
28
-
-
40449139980
-
The itinerary of autophagosomes: From peripheral formation to kiss-and-run fusion with lysosomes
-
Jahreiss, L., Menzies, F. M., and, Rubinsztein, D. C., (2008) The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes. Traffic 9, 574-587.
-
(2008)
Traffic
, vol.9
, pp. 574-587
-
-
Jahreiss, L.1
Menzies, F.M.2
Rubinsztein, D.C.3
-
29
-
-
62949156035
-
Secondary lipid accumulation in lysosomal disease
-
Walkley, S. U., and, Vanier, M. T., (2009) Secondary lipid accumulation in lysosomal disease. Biochim. Biophys. Acta Mol. Cell Res. 1793, 726-736.
-
(2009)
Biochim. Biophys. Acta Mol. Cell Res.
, vol.1793
, pp. 726-736
-
-
Walkley, S.U.1
Vanier, M.T.2
-
30
-
-
80755129000
-
Secondary alterations of sphingolipid metabolism in lysosomal storage diseases
-
Prinetti, A., Prioni, S., Chiricozzi, E., Schuchman, E. H., Chigorno, V., et al. (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
-
31
-
-
79953193429
-
Secondary storage of dermatan sulfate in Sanfilippo disease
-
Lamanna, W. C., Lawrence, R., Sarrazin, S., and, Esko, J. D., (2011) Secondary storage of dermatan sulfate in Sanfilippo disease. J. Biol. Chem. 286, 6955-6962.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 6955-6962
-
-
Lamanna, W.C.1
Lawrence, R.2
Sarrazin, S.3
Esko, J.D.4
-
32
-
-
0038309329
-
The molecular mechanism of autophagy
-
Wang, C. W., and, Klionsky, D. J., (2003) The molecular mechanism of autophagy. Mol. Med. 9, 65-76.
-
(2003)
Mol. Med.
, vol.9
, pp. 65-76
-
-
Wang, C.W.1
Klionsky, D.J.2
-
33
-
-
62949116803
-
Lysosomal disorders: From storage to cellular damage
-
Ballabio, A., and, Gieselmann, V., (2009) Lysosomal disorders: from storage to cellular damage. Biochim. Biophys. Acta Mol. Cell Res. 1793, 684-696.
-
(2009)
Biochim. Biophys. Acta Mol. Cell Res.
, vol.1793
, pp. 684-696
-
-
Ballabio, A.1
Gieselmann, V.2
-
34
-
-
77649211816
-
Disease pathogenesis explained by basic science: Lysosomal storage diseases as autophagocytic disorders
-
Ballabio, A., (2009) Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. Int. J. Clin. Pharmacol. Ther. 47, S34-S38.
-
(2009)
Int. J. Clin. Pharmacol. Ther.
, vol.47
-
-
Ballabio, A.1
-
35
-
-
28244493702
-
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease)
-
Koike, M., Shibata, M., Waguri, S., Yoshimura, K., Tanida, I., et al. (2005) Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). Am. J. Pathol. 167, 1713-1728.
-
(2005)
Am. J. Pathol.
, vol.167
, pp. 1713-1728
-
-
Koike, M.1
Shibata, M.2
Waguri, S.3
Yoshimura, K.4
Tanida, I.5
-
36
-
-
33745976466
-
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
-
Cao, Y., Espinola, J. A., Fossale, E., Massey, A. C., Cuervo, A. M., et al. (2006) Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J. Biol. Chem. 281, 20483-20493.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 20483-20493
-
-
Cao, Y.1
Espinola, J.A.2
Fossale, E.3
Massey, A.C.4
Cuervo, A.M.5
-
37
-
-
37549066697
-
A block of autophagy in lysosomal storage disorders
-
Settembre, C., Fraldi, A., Jahreiss, L., Spampanato, C., Venturi, C., et al. (2008) A block of autophagy in lysosomal storage disorders. Hum. Mol. Genet. 17, 119-129.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 119-129
-
-
Settembre, C.1
Fraldi, A.2
Jahreiss, L.3
Spampanato, C.4
Venturi, C.5
-
38
-
-
67650261893
-
The values and limits of an in vitro model of Pompe disease
-
Takikita, S., Myerowitz, R., Schreiner, C., Baum, R., Raben, N., et al. (2009) The values and limits of an in vitro model of Pompe disease. The best laid schemes o' mice an' men.... Autophagy 5, 729-731.
-
(2009)
The Best Laid Schemes o' Mice An' Men .... Autophagy
, vol.5
, pp. 729-731
-
-
Takikita, S.1
Myerowitz, R.2
Schreiner, C.3
Baum, R.4
Raben, N.5
-
39
-
-
0034232418
-
Regulation of Lamp2a levels in the lysosomal membrane
-
Cuervo, A. M., and, Dice, J. F., (2000) Regulation of Lamp2a levels in the lysosomal membrane. Traffic 1, 570-583.
-
(2000)
Traffic
, vol.1
, pp. 570-583
-
-
Cuervo, A.M.1
Dice, J.F.2
-
40
-
-
34948909145
-
Abnormal chaperone-mediated autophagy (CMA) in cardiomyocytes of a boy with Danon disease
-
Fidzianska, A., Walczak, E., and, Walski, M., (2007) Abnormal chaperone-mediated autophagy (CMA) in cardiomyocytes of a boy with Danon disease. Folia Neuropathol. 45, 133-139.
-
(2007)
Folia Neuropathol.
, vol.45
, pp. 133-139
-
-
Fidzianska, A.1
Walczak, E.2
Walski, M.3
-
41
-
-
62149131064
-
Chaperone-mediated autophagy is defective in mucolipidosis type IV
-
Venugopal, B., Mesires, N. T., Kennedy, J. C., Curcio-Morelli, C., Laplante, J. M., et al. (2009) Chaperone-mediated autophagy is defective in mucolipidosis type IV. J. Cell. Physiol. 219, 344-353.
-
(2009)
J. Cell. Physiol.
, vol.219
, pp. 344-353
-
-
Venugopal, B.1
Mesires, N.T.2
Kennedy, J.C.3
Curcio-Morelli, C.4
Laplante, J.M.5
-
42
-
-
34948881759
-
Neuronal and glial accumulation of α- And β-synucleins in human lipidoses
-
Suzuki, K., Iseki, E., Togo, T., Yamaguchi, A., Katsuse, O., et al. (2007) Neuronal and glial accumulation of α- and β-synucleins in human lipidoses. Acta Neuropathol. 114, 481-489.
-
(2007)
Acta Neuropathol.
, vol.114
, pp. 481-489
-
-
Suzuki, K.1
Iseki, E.2
Togo, T.3
Yamaguchi, A.4
Katsuse, O.5
-
43
-
-
0036566266
-
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
-
Ravikumar, B., Duden, R., and, Rubinsztein, D. C., (2002) Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum. Mol. Genet. 11, 1107-1117.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1107-1117
-
-
Ravikumar, B.1
Duden, R.2
Rubinsztein, D.C.3
-
44
-
-
77954116814
-
Autophagy gone awry in neurodegenerative diseases
-
Wong, E., and, Cuervo, A. M.,., (2010) Autophagy gone awry in neurodegenerative diseases. Nat. Neurosci. 13, 805-811.
-
(2010)
Nat. Neurosci.
, vol.13
, pp. 805-811
-
-
Wong, E.1
Cuervo, A.M.2
-
45
-
-
77953913051
-
Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations
-
Lee, J. H., Yu, W. H., Kumar, A., Lee, S., Mohan, P. S., et al. (2010) Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations. Cell 141, U1146-U1191.
-
(2010)
Cell
, vol.141
-
-
Lee, J.H.1
Yu, W.H.2
Kumar, A.3
Lee, S.4
Mohan, P.S.5
-
46
-
-
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
-
47
-
-
84877601173
-
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
-
Spampanato, C., Feeney, E., Li, L. S., Cardone, M., Lim, J. A., et al. (2013) Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol. Med. 5, 691-706.
-
(2013)
EMBO Mol. Med.
, vol.5
, pp. 691-706
-
-
Spampanato, C.1
Feeney, E.2
Li, L.S.3
Cardone, M.4
Lim, J.A.5
-
48
-
-
42249105215
-
The sphingolipid salvage pathway in ceramide metabolism and signaling
-
Kitatani, K., Idkowiak-Baldys, J., and, Hannun, Y. A., (2008) The sphingolipid salvage pathway in ceramide metabolism and signaling. Cell. Signal. 20, 1010-1018.
-
(2008)
Cell. Signal.
, vol.20
, pp. 1010-1018
-
-
Kitatani, K.1
Idkowiak-Baldys, J.2
Hannun, Y.A.3
-
49
-
-
78650658178
-
Benefits from unearthing "a biochemical Rosetta Stone." J
-
Brady, R. O., (2010) Benefits from unearthing "a biochemical Rosetta Stone." J. Biol. Chem. 285, 41216-41221.
-
(2010)
Biol. Chem.
, vol.285
, pp. 41216-41221
-
-
Brady, R.O.1
-
50
-
-
36849009197
-
Treatment of lysosomal storage disorders - Progress with enzyme replacement therapy
-
Rohrbach, M., and, Clarke, J. T. R., (2007) Treatment of lysosomal storage disorders-progress with enzyme replacement therapy. Drugs 67, 2697-2716.
-
(2007)
Drugs
, vol.67
, pp. 2697-2716
-
-
Rohrbach, M.1
Clarke, J.T.R.2
-
51
-
-
84872479464
-
Enzyme replacement therapy for lysosomal diseases: Lessons from 20 years of experience and remaining challenges
-
Desnick, R. J., and, Schuchman, E. H., (2012) Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu. Rev. Genomics Hum. Genet. 13, 307-335.
-
(2012)
Annu. Rev. Genomics Hum. Genet.
, vol.13
, pp. 307-335
-
-
Desnick, R.J.1
Schuchman, E.H.2
-
52
-
-
15744381966
-
Enzyme replacement in Gaucher disease
-
Beutler, E., (2004) Enzyme replacement in Gaucher disease. PLoS Med. 1, 118-121.
-
(2004)
PLoS Med.
, vol.1
, pp. 118-121
-
-
Beutler, E.1
-
53
-
-
0035049241
-
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease
-
Altarescu, G., Hill, S., Wiggs, E., Jeffries, N., Kreps, C., et al. (2001) The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J. Pediatr. 138, 539-547.
-
(2001)
J. Pediatr.
, vol.138
, pp. 539-547
-
-
Altarescu, G.1
Hill, S.2
Wiggs, E.3
Jeffries, N.4
Kreps, C.5
-
54
-
-
84892745493
-
Hematopoietic stem cell transplant for lysosomal storage diseases
-
Lund, T. C., (2013) Hematopoietic stem cell transplant for lysosomal storage diseases. Pediatr. Endocrinol. Rev. 11, 91-98.
-
(2013)
Pediatr. Endocrinol. Rev.
, vol.11
, pp. 91-98
-
-
Lund, T.C.1
-
55
-
-
74049108936
-
Cord blood and bone marrow transplantation in inherited metabolic diseases: Scientific basis, current status and future directions
-
Prasad, V. K., and, Kurtzberg, J., (2010) Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br. J. Haematol. 148, 356-372.
-
(2010)
Br. J. Haematol.
, vol.148
, pp. 356-372
-
-
Prasad, V.K.1
Kurtzberg, J.2
-
56
-
-
4644224470
-
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
-
Schueler, U. H., Kolter, T., Kaneski, C. R., Zirzow, G. C., Sandhoff, K., et al. (2004) Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease. J. Inherit. Metab. Dis. 27, 649-658.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 649-658
-
-
Schueler, U.H.1
Kolter, T.2
Kaneski, C.R.3
Zirzow, G.C.4
Sandhoff, K.5
-
57
-
-
80053496078
-
Gene therapy for lysosomal storage diseases: Progress, challenges and future prospects
-
Seregin, S. S., and, Amalfitano, A., (2011) Gene therapy for lysosomal storage diseases: progress, challenges and future prospects. Curr. Pharm. Des. 17, 2558-2574.
-
(2011)
Curr. Pharm. Des.
, vol.17
, pp. 2558-2574
-
-
Seregin, S.S.1
Amalfitano, A.2
-
58
-
-
33645071059
-
Miglustat: Substrate reduction therapy for glycosphingolipid lysosomal storage disorders
-
Lachmann, R. H., (2006) Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders. Drugs Today (Barc) 42, 29-38.
-
(2006)
Drugs Today (Barc)
, vol.42
, pp. 29-38
-
-
Lachmann, R.H.1
-
59
-
-
34547753513
-
Miglustat for treatment of Niemann-Pick C disease: A randomised controlled study
-
Patterson, M. C., Vecchio, D., Prady, H., Abel, L., and, Wraith, J. E., (2007) Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 6, 765-772.
-
(2007)
Lancet Neurol.
, vol.6
, pp. 765-772
-
-
Patterson, M.C.1
Vecchio, D.2
Prady, H.3
Abel, L.4
Wraith, J.E.5
-
60
-
-
77957605619
-
Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases
-
Cox, T. M., (2010) Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curr. Opin. Investig. Drugs 11, 1169-1181.
-
(2010)
Curr. Opin. Investig. Drugs
, vol.11
, pp. 1169-1181
-
-
Cox, T.M.1
-
61
-
-
84906934849
-
Skeletal improvement in patients with Gaucher disease type 1: A phase 2 trial of oral eliglustat
-
May 10.
-
Kamath, R. S., Lukina, E., Watman, N., Dragosky, M., Pastores, G. M., et al. Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol., 2014 May 10.
-
(2014)
Skeletal Radiol
-
-
Kamath, R.S.1
Lukina, E.2
Watman, N.3
Dragosky, M.4
Pastores, G.M.5
-
62
-
-
70349190528
-
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression
-
Davidson, C. D., Ali, N. F., Micsenyi, M. C., Stephney, G., Renault, S., et al. (2009) Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One 4, e6951.
-
(2009)
PLoS One
, vol.4
-
-
Davidson, C.D.1
Ali, N.F.2
Micsenyi, M.C.3
Stephney, G.4
Renault, S.5
-
63
-
-
84898073840
-
2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: Implications for therapy
-
Song, W., Wang, F., Lotfi, P., Sardiello, M., and, Segatori, L., (2014) 2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: implications for therapy. J. Biol. Chem. 289, 10211-10222.
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 10211-10222
-
-
Song, W.1
Wang, F.2
Lotfi, P.3
Sardiello, M.4
Segatori, L.5
-
64
-
-
77956193128
-
Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease
-
Strauss, K., Goebel, C., Runz, H., Mobius, W., Weiss, S., et al. (2010) Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease. J. Biol. Chem. 285, 26279-26288.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 26279-26288
-
-
Strauss, K.1
Goebel, C.2
Runz, H.3
Mobius, W.4
Weiss, S.5
-
65
-
-
75749102680
-
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology
-
Kirkegaard, T., Roth, A. G., Petersen, N. H., Mahalka, A. K., Olsen, O. D., et al. (2010) Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 463, 549-553.
-
(2010)
Nature
, vol.463
, pp. 549-553
-
-
Kirkegaard, T.1
Roth, A.G.2
Petersen, N.H.3
Mahalka, A.K.4
Olsen, O.D.5
-
66
-
-
40149095757
-
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis
-
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, 253-265.
-
(2008)
PLoS Biol.
, vol.6
, pp. 253-265
-
-
Mu, T.W.1
Fowler, D.M.2
Kelly, J.W.3
|