-
1
-
-
48449103907
-
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice
-
Ausseil, J., Desmaris, N., Bigou, S., Attali, R., Corbineau, S., Vitry, S., Parent, M., Cheillan, D., Fuller, M., Maire, I. et al. (2008) Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. PLoS ONE 3, e2296
-
(2008)
PLoS ONE
, vol.3
-
-
Ausseil, J.1
Desmaris, N.2
Bigou, S.3
Attali, R.4
Corbineau, S.5
Vitry, S.6
Parent, M.7
Cheillan, D.8
Fuller, M.9
Maire, I.10
-
2
-
-
62949116803
-
Lysosomal disorders: From storage to cellular damage
-
Ballabio, A. and Gieselmann, V. (2009) Lysosomal disorders: from storage to cellular damage. Biochim. Biophys. Acta 1793, 684-696
-
(2009)
Biochim. Biophys. Acta
, vol.1793
, pp. 684-696
-
-
Ballabio, A.1
Gieselmann, V.2
-
3
-
-
0030797123
-
Diagnosis of lysosomal storage disorders: Evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker
-
Meikle, P.J., Brooks, D.A., Ravenscroft, E.M., Yan, M., Williams, R.E., Jaunzems, A.E., Chataway, T.K., Karageorgos, L.E., Davey, R.C., Boulter, C.D. et al. (1997) Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker. Clin. Chem. 43, 1325-1335
-
(1997)
Clin. Chem.
, vol.43
, pp. 1325-1335
-
-
Meikle, P.J.1
Brooks, D.A.2
Ravenscroft, E.M.3
Yan, M.4
Williams, R.E.5
Jaunzems, A.E.6
Chataway, T.K.7
Karageorgos, L.E.8
Davey, R.C.9
Boulter, C.D.10
-
4
-
-
0016817563
-
Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro
-
Avila, J.L. 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.L.1
Convit, J.2
-
5
-
-
0034528837
-
Posttranslational regulation of acid sphingomyelinase in Niemann-Pick type C1 fibroblasts and free cholesterol-enriched chinese hamster ovary cells
-
Reagan, Jr, J.W., Hubbert, M.L. and Shelness, G.S. (2000) Posttranslational regulation of acid sphingomyelinase in Niemann-Pick type C1 fibroblasts and free cholesterol-enriched chinese hamster ovary cells. J. Biol. Chem. 275, 38104-38110
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 38104-38110
-
-
Reagan Jr., J.W.1
Hubbert, M.L.2
Shelness, G.S.3
-
6
-
-
2342436735
-
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C
-
Salvioli, R., Scarpa, S., Ciaffoni, F., Tatti, M., Ramoni, C., Vanier, M.T. and Vaccaro, A.M. (2004) Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C. J. Biol. Chem. 279, 17674-17680
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 17674-17680
-
-
Salvioli, R.1
Scarpa, S.2
Ciaffoni, F.3
Tatti, M.4
Ramoni, C.5
Vanier, M.T.6
Vaccaro, A.M.7
-
7
-
-
33750429328
-
Suppression of the cup-5 mucolipidosis type IV-related lysosomal dysfunction by the inactivation of an ABC transporter in C. elegans
-
Schaheen, L., Patton, G. and Fares, H. (2006) Suppression of the cup-5 mucolipidosis type IV-related lysosomal dysfunction by the inactivation of an ABC transporter in C. elegans. Development 133, 3939-3948
-
(2006)
Development
, vol.133
, pp. 3939-3948
-
-
Schaheen, L.1
Patton, G.2
Fares, H.3
-
8
-
-
3242741280
-
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
-
Lachmann, R.H., te Vruchte, D., Lloyd-Evans, E., Reinkensmeier, G., Sillence, D.J., Fernandez-Guillen, L., Dwek, R.A., Butters, T.D., Cox, T.M. and Platt, F.M. (2004) Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol. Dis. 16, 654-658
-
(2004)
Neurobiol. Dis.
, vol.16
, pp. 654-658
-
-
Lachmann, R.H.1
Te Vruchte, D.2
Lloyd-Evans, E.3
Reinkensmeier, G.4
Sillence, D.J.5
Fernandez-Guillen, L.6
Dwek, R.A.7
Butters, T.D.8
Cox, T.M.9
Platt, F.M.10
-
9
-
-
0028885950
-
Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: Partial correction by enzyme replacement therapy
-
Marodi, L., Kaposzta, R., Toth, J. and Laszlo, A. (1995) Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: partial correction by enzyme replacement therapy. Blood 86, 4645-4649
-
(1995)
Blood
, vol.86
, pp. 4645-4649
-
-
Marodi, L.1
Kaposzta, R.2
Toth, J.3
Laszlo, A.4
-
10
-
-
0033840811
-
Immunodeficiency in?-mannosidosis: A matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes
-
Malm, D., Halvorsen, D.S., Tranebjaerg, L. and Sjursen, H. (2000) Immunodeficiency in ?-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. 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
-
11
-
-
34248578374
-
Autophagy, mitochondria and cell death in lysosomal storage diseases
-
Kiselyov, K., Jennigs, Jr, J.J., Rbaibi, Y. and Chu, C.T. (2007) Autophagy, mitochondria and cell death in lysosomal storage diseases. Autophagy 3, 259-262
-
(2007)
Autophagy
, vol.3
, pp. 259-262
-
-
Kiselyov, K.1
Jennigs Jr., J.J.2
Rbaibi, Y.3
Chu, C.T.4
-
12
-
-
38049025671
-
Lysosomal storage diseases as disorders of autophagy
-
Settembre, C., Fraldi, A., Rubinsztein, D.C. and Ballabio, A. (2008) Lysosomal storage diseases as disorders of autophagy. Autophagy 4, 113-114
-
(2008)
Autophagy
, vol.4
, pp. 113-114
-
-
Settembre, C.1
Fraldi, A.2
Rubinsztein, D.C.3
Ballabio, A.4
-
13
-
-
51849116835
-
The pathogenesis of Niemann-Pick type C disease: A role for autophagy?
-
Pacheco, C.D. and Lieberman, A.P. (2008) The pathogenesis of Niemann-Pick type C disease: a role for autophagy? Expert Rev. Mol. Med. 10, e26
-
(2008)
Expert Rev. Mol. Med.
, vol.10
-
-
Pacheco, C.D.1
Lieberman, A.P.2
-
14
-
-
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., MacDonald, M.E. and Cotman, S.L. (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
MacDonald, M.E.6
Cotman, S.L.7
-
15
-
-
38649117272
-
Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis
-
Takamura, A., Higaki, K., Kajimaki, K., Otsuka, S., Ninomiya, H., Matsuda, J., Ohno, K., Suzuki, Y. and Nanba, E. (2008) Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis. Biochem. Biophys. Res. Commun. 367, 616-622
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.367
, pp. 616-622
-
-
Takamura, A.1
Higaki, K.2
Kajimaki, K.3
Otsuka, S.4
Ninomiya, H.5
Matsuda, J.6
Ohno, K.7
Suzuki, Y.8
Nanba, E.9
-
16
-
-
33846022005
-
Mitochondrial aberrations in mucolipidosis type IV
-
Jennings, Jr, J.J., Zhu, J.H., Rbaibi, Y., Luo, X., Chu, C.T. and Kiselyov, K. (2006) Mitochondrial aberrations in mucolipidosis type IV. J. Biol. Chem. 281, 39041-39050
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 39041-39050
-
-
Jennings Jr., J.J.1
Zhu, J.H.2
Rbaibi, Y.3
Luo, X.4
Chu, C.T.5
Kiselyov, K.6
-
17
-
-
37549066697
-
A block of autophagy in lysosomal storage disorders
-
Settembre, C., Fraldi, A., Jahreiss, L., Spampanato, C., Venturi, C., Medina, D., de Pablo, R., Tacchetti, C., Rubinsztein, D.C. and Ballabio, A. (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
Medina, D.6
De Pablo, R.7
Tacchetti, C.8
Rubinsztein, D.C.9
Ballabio, A.10
-
18
-
-
58149468046
-
When more is less: Excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease
-
Raben, N., Baum, R., Schreiner, C., Takikita, S., Mizushima, N., Ralston, E. and Plotz, P. (2009) When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease. Autophagy 5, 111-113
-
(2009)
Autophagy
, vol.5
, pp. 111-113
-
-
Raben, N.1
Baum, R.2
Schreiner, C.3
Takikita, S.4
Mizushima, N.5
Ralston, E.6
Plotz, P.7
-
19
-
-
37249037423
-
Lysosomal dysfunction results in altered energy balance
-
Woloszynek, J.C., Coleman, T., Semenkovich, C.F. and Sands, M.S. (2007) Lysosomal dysfunction results in altered energy balance. J. Biol. Chem. 282, 35765-35771
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 35765-35771
-
-
Woloszynek, J.C.1
Coleman, T.2
Semenkovich, C.F.3
Sands, M.S.4
-
20
-
-
0035031192
-
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
-
Fares, H. and Greenwald, I. (2001) Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nat. Genet. 28, 64-68
-
(2001)
Nat. Genet.
, vol.28
, pp. 64-68
-
-
Fares, H.1
Greenwald, I.2
-
21
-
-
0038264340
-
Membrane dynamics and the biogenesis of lysosomes
-
Luzio, J.P., Poupon, V., Lindsay, M.R., Mullock, B.M., Piper, R.C. and Pryor, P.R. (2003) Membrane dynamics and the biogenesis of lysosomes. Mol. Membr. Biol. 20, 141-154
-
(2003)
Mol. Membr. Biol.
, vol.20
, pp. 141-154
-
-
Luzio, J.P.1
Poupon, V.2
Lindsay, M.R.3
Mullock, B.M.4
Piper, R.C.5
Pryor, P.R.6
-
22
-
-
67749122634
-
A gene network regulating lysosomal biogenesis and function
-
Sardiello, M., Palmieri, M., di Ronza, A., Medina, D.L., Valenza, M., Gennarino, V.A., Di Malta, C., Donaudy, F., Embrione, V., Polishchuk, R.S. et al. (2009) A gene network regulating lysosomal biogenesis and function. Science 325, 473-477
-
(2009)
Science
, vol.325
, pp. 473-477
-
-
Sardiello, M.1
Palmieri, M.2
Di Ronza, A.3
Medina, D.L.4
Valenza, M.5
Gennarino, V.A.6
Di Malta, C.7
Donaudy, F.8
Embrione, V.9
Polishchuk, R.S.10
-
23
-
-
0037762569
-
Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases
-
Pagano, R.E. (2003) Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases. Philos. Trans. R. Soc. London Ser. B 358, 885-891
-
(2003)
Philos. Trans. R. Soc. London Ser. B
, vol.358
, pp. 885-891
-
-
Pagano, R.E.1
-
24
-
-
20444396178
-
Niemann-Pick type C disease and intracellular cholesterol trafficking
-
Chang, T.Y., Reid, P.C., Sugii, S., Ohgami, N., Cruz, J.C. and Chang, C.C. (2005) Niemann-Pick type C disease and intracellular cholesterol trafficking. J. Biol. Chem. 280, 20917-20920
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 20917-20920
-
-
Chang, T.Y.1
Reid, P.C.2
Sugii, S.3
Ohgami, N.4
Cruz, J.C.5
Chang, C.C.6
-
25
-
-
0035836635
-
Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease
-
Zhang, M., Dwyer, N.K., Love, D.C., Cooney, A., Comly, M., Neufeld, E., Pentchev, P.G., Blanchette-Mackie, E.J. and Hanover, J.A. (2001) Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease. Proc. Natl. Acad. Sci. U.S.A. 98, 4466-4471
-
(2001)
Proc. Natl. Acad. Sci. U.S.A.
, vol.98
, pp. 4466-4471
-
-
Zhang, M.1
Dwyer, N.K.2
Love, D.C.3
Cooney, A.4
Comly, M.5
Neufeld, E.6
Pentchev, P.G.7
Blanchette-Mackie, E.J.8
Hanover, J.A.9
-
26
-
-
0037086443
-
Late endosome motility depends on lipids via the small GTPase Rab7
-
Lebrand, C., Corti, M., Goodson, H., Cosson, P., Cavalli, V., Mayran, N., Faure, J. and Gruenberg, J. (2002) Late endosome motility depends on lipids via the small GTPase Rab7. EMBO J. 21, 1289-300
-
(2002)
EMBO J.
, vol.21
, pp. 1289-1300
-
-
Lebrand, C.1
Corti, M.2
Goodson, H.3
Cosson, P.4
Cavalli, V.5
Mayran, N.6
Faure, J.7
Gruenberg, J.8
-
27
-
-
4644263342
-
Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling
-
Choudhury, A., Sharma, D.K., Marks, D.L. and Pagano, R.E. (2004) Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling. Mol. Biol. Cell 15, 4500-4511
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 4500-4511
-
-
Choudhury, A.1
Sharma, D.K.2
Marks, D.L.3
Pagano, R.E.4
-
28
-
-
58249095949
-
Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease
-
Kaptzan, T., West, S.A., Holicky, E.L., Wheatley, C.L., Marks, D.L., Wang, T., Peake, K.B., Vance, J., Walkley, S.U. and Pagano, R.E. (2009) Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease. Am. J. Pathol. 174, 14-20
-
(2009)
Am. J. Pathol.
, vol.174
, pp. 14-20
-
-
Kaptzan, T.1
West, S.A.2
Holicky, E.L.3
Wheatley, C.L.4
Marks, D.L.5
Wang, T.6
Peake, K.B.7
Vance, J.8
Walkley, S.U.9
Pagano, R.E.10
-
29
-
-
65349184122
-
ARF6-mediated endosome recycling reverses lipid accumulation defects in Niemann-Pick type C disease
-
Schweitzer, J.K., Pietrini, S.D. and D'Souza-Schorey, C. (2009) ARF6-mediated endosome recycling reverses lipid accumulation defects in Niemann-Pick type C disease. PLoS ONE 4, e5193
-
(2009)
PLoS ONE
, vol.4
-
-
Schweitzer, J.K.1
Pietrini, S.D.2
D'Souza-Schorey, C.3
-
30
-
-
36749070036
-
The role of calcium and other ions in sorting and delivery in the late endocytic pathway
-
Luzio, J.P., Bright, N.A. and Pryor, P.R. (2007) The role of calcium and other ions in sorting and delivery in the late endocytic pathway. Biochem. Soc. Trans. 35, 1088-1091
-
(2007)
Biochem. Soc. Trans.
, vol.35
, pp. 1088-1091
-
-
Luzio, J.P.1
Bright, N.A.2
Pryor, P.R.3
-
31
-
-
9744229206
-
Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
-
McGlynn, R., Dobrenis, K. and Walkley, S.U. (2004) Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J. Comp. Neurol. 480, 415-426
-
(2004)
J. Comp. Neurol.
, vol.480
, pp. 415-426
-
-
McGlynn, R.1
Dobrenis, K.2
Walkley, S.U.3
-
32
-
-
34248176800
-
The biogenesis of the Golgi ribbon: The roles of membrane input from the ER and of GM130
-
Marra, P., Salvatore, L., Mironov, Jr, A., Di Campli, A., Di Tullio, G., Trucco, A., Beznoussenko, G., Mironov, A. and De Matteis, M.A. (2007) The biogenesis of the Golgi ribbon: the roles of membrane input from the ER and of GM130. Mol. Biol. Cell 18, 1595-608
-
(2007)
Mol. Biol. Cell
, vol.18
, pp. 1595-1608
-
-
Marra, P.1
Salvatore, L.2
Mironov Jr., A.3
Di Campli, A.4
Di Tullio, G.5
Trucco, A.6
Beznoussenko, G.7
Mironov, A.8
De Matteis, M.A.9
-
33
-
-
33644756640
-
GM130 and GRASP65-dependent lateral cisternal fusion allows uniform Golgi-enzyme distribution
-
Puthenveedu, M.A., Bachert, C., Puri, S., Lanni, F. and Linstedt, A.D. (2006) GM130 and GRASP65-dependent lateral cisternal fusion allows uniform Golgi-enzyme distribution. Nat. Cell Biol. 8, 238-248
-
(2006)
Nat. Cell Biol.
, vol.8
, pp. 238-248
-
-
Puthenveedu, M.A.1
Bachert, C.2
Puri, S.3
Lanni, F.4
Linstedt, A.D.5
-
34
-
-
67349287493
-
Microtubule nucleation at the cis-side of the Golgi apparatus requires AKAP450 and GM130
-
Rivero, S., Cardenas, J., Bornens, M. and Rios, R.M. (2009) Microtubule nucleation at the cis-side of the Golgi apparatus requires AKAP450 and GM130. EMBO J. 28, 1016-1028
-
(2009)
EMBO J.
, vol.28
, pp. 1016-1028
-
-
Rivero, S.1
Cardenas, J.2
Bornens, M.3
Rios, R.M.4
-
35
-
-
78649739968
-
Storage vesicles in neurons are related to Golgi complex altertions in mucopolysaccharidesis IIIB
-
doi:10.2353/ajpath.2010.100447
-
Vitry, S., Bruyère, J., Hocquemiller, M., Bigou, S., Ausseil, J., Colle, M.A., Prevost, M.C. and Heard, J.M. (2010) Storage vesicles in neurons are related to Golgi complex altertions in mucopolysaccharidesis IIIB. Am. J. Pathol., doi:10.2353/ajpath.2010.100447
-
(2010)
Am. J. Pathol.
-
-
Vitry, S.1
Bruyère, J.2
Hocquemiller, M.3
Bigou, S.4
Ausseil, J.5
Colle, M.A.6
Prevost, M.C.7
Heard, J.M.8
-
36
-
-
45149103982
-
Membrane traffic and turnover in TRP-ML1-deficient cells: A revised model for mucolipidosis type IV pathogenesis
-
Miedel, M.T., Rbaibi, Y., Guerriero, C.J., Colletti, G., Weixel, K.M., Weisz, O.A. and Kiselyov, K. (2008) Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. J. Exp. Med. 205, 1477-1490
-
(2008)
J. Exp. Med.
, vol.205
, pp. 1477-1490
-
-
Miedel, M.T.1
Rbaibi, Y.2
Guerriero, C.J.3
Colletti, G.4
Weixel, K.M.5
Weisz, O.A.6
Kiselyov, K.7
|