-
1
-
-
0025897376
-
Saposin proteins: Structure, function, and role in human lysosomal storage disorders
-
J. O'Brien, Y. Kishimoto, Saposin proteins: structure, function, and role in human lysosomal storage disorders, FASEB J. 5 (1991) 301-308.
-
(1991)
FASEB J.
, vol.5
, pp. 301-308
-
-
O'Brien, J.1
Kishimoto, Y.2
-
2
-
-
0026768211
-
Saposins: Structure, function, distribution, and molecular genetics
-
Y. Kishimoto, M. Hiraiwa, J.S. O'Brien, Saposins: structure, function, distribution, and molecular genetics, J. Lipid Res. 33 (1992) 1255-1267.
-
(1992)
J. Lipid Res.
, vol.33
, pp. 1255-1267
-
-
Kishimoto, Y.1
Hiraiwa, M.2
O'Brien, J.S.3
-
3
-
-
0026747197
-
Activator proteins and topology of lysosomal sphingolipid catabolism
-
W. Furst, K. Sandhoff, Activator proteins and topology of lysosomal sphingolipid catabolism, Biochim. Biophys. Acta 1126 (1992) 1-16.
-
(1992)
Biochim. Biophys. Acta
, vol.1126
, pp. 1-16
-
-
Furst, W.1
Sandhoff, K.2
-
4
-
-
0000857916
-
Sphingolipid activators proteins
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Volgstein (Eds.), 8th ed., McGraw-Hill, New York
-
K. Sandhoff, T. Kolter, H. Harzer, Sphingolipid activators proteins, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Volgstein (Eds.), The Metabolic and Molecular Bases of Inherited Disease, 8th ed., McGraw-Hill, New York, 2001, pp. 3371-3388.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3371-3388
-
-
Sandhoff, K.1
Kolter, T.2
Harzer, H.3
-
5
-
-
0029417339
-
PH-dependent conformational properties of saposins and their interactions with phospholipid membranes
-
A.M. Vaccaro, F. Ciaffoni, M. Tatti, R. Salvioli, A. Barca, D. Tognozzi, C. Scerch, PH-dependent conformational properties of saposins and their interactions with phospholipid membranes, J. Biol. Chem. 270 (1995) 30576-30580.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 30576-30580
-
-
Vaccaro, A.M.1
Ciaffoni, F.2
Tatti, M.3
Salvioli, R.4
Barca, A.5
Tognozzi, D.6
Scerch, C.7
-
6
-
-
0041355292
-
Saposin C is required for normal resistance of acid β-glucosidase to proteolytic degradation
-
Y. Sun, X. Qi, G.A. Grabowski, Saposin C is required for normal resistance of acid β-glucosidase to proteolytic degradation, J. Biol. Chem. 278 (2003) 31918-31923.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 31918-31923
-
-
Sun, Y.1
Qi, X.2
Grabowski, G.A.3
-
7
-
-
0024435444
-
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder
-
H. Christomanou, A. Chabas, T. Pampols, A. Guardiola, Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder, Klin. Wochenschr. 67 (1989) 999-1003. (Pubitemid 19239576)
-
(1989)
Klinische Wochenschrift
, vol.67
, Issue.19
, pp. 999-1003
-
-
Christomanou, H.1
Chabas, A.2
Pampols, T.3
Guardiola, A.4
-
8
-
-
0025762364
-
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease
-
D. Schnabel, M. Schroeder, K. Sandhoff, Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease, FEBS Lett. 284 (1991) 57-59.
-
(1991)
FEBS Lett.
, vol.284
, pp. 57-59
-
-
Schnabel, D.1
Schroeder, M.2
Sandhoff, K.3
-
9
-
-
36248977119
-
Non-neuronopathic Gaucher disease due to Saposin C deficiency
-
A. Tylki-Szymanska, B. Czartoryska, M.T. Vanier, B.J.M.H. Poorthuis, J.A.E. Groener, A. Lugowska, G. Millat, A.M. Vaccaro, E. Jurkiewicz, Non-neuronopathic Gaucher disease due to Saposin C deficiency, Clin. Genet. 72 (2007) 538-542.
-
(2007)
Clin. Genet.
, vol.72
, pp. 538-542
-
-
Tylki-Szymanska, A.1
Czartoryska, B.2
Vanier, M.T.3
Poorthuis, B.J.M.H.4
Groener, J.A.E.5
Lugowska, A.6
Millat, G.7
Vaccaro, A.M.8
Jurkiewicz, E.9
-
10
-
-
77958185918
-
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, Saposin C deficiency, but normal prosaposin processing and sorting
-
A.M. Vaccaro, M. Motta, M. Tatti, S. Scarpa, L. Masuelli, M. Bhat, M.T. Vanier, A. Tylki-Szymanska, R. Salvioli, Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, Saposin C deficiency, but normal prosaposin processing and sorting, Hum. Mol. Genet. 19 (2010) 2987-2997.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 2987-2997
-
-
Vaccaro, A.M.1
Motta, M.2
Tatti, M.3
Scarpa, S.4
Masuelli, L.5
Bhat, M.6
Vanier, M.T.7
Tylki-Szymanska, A.8
Salvioli, R.9
-
11
-
-
0027494660
-
Function of saposin C in the reconstitution of glucosylceramidase by phosphatidylserine liposomes
-
DOI 10.1016/0014-5793(93)81631-9
-
A.M. Vaccaro, M. Tatti, F. Ciaffoni, R. Salvioli, B. Maras, A. Barca, Function of Saposin C in the reconstitution of glucosylceramidase by phosphatidylserine liposomes, FEBS Lett. 336 (1993) 159-162. (Pubitemid 23362025)
-
(1993)
FEBS Letters
, vol.336
, Issue.1
, pp. 159-162
-
-
Vaccaro, A.M.1
Tatti, M.2
Ciaffoni, F.3
Salvioli, R.4
Maras, B.5
Barca, A.6
-
12
-
-
0030878138
-
Effect of Saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide
-
A.M. Vaccaro, M. Tatti, F. Ciaffoni, R. Salvioli, A. Barca, C. Scerch, Effect of Saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide, J. Biol. Chem. 272 (1997) 16862-16867.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 16862-16867
-
-
Vaccaro, A.M.1
Tatti, M.2
Ciaffoni, F.3
Salvioli, R.4
Barca, A.5
Scerch, C.6
-
13
-
-
0032958515
-
Saposins and their interaction with lipids
-
A.M. Vaccaro, R. Salvioli, M. Tatti, F. Ciaffoni, Saposins and their interaction with lipids, Neurochem. Res. 24 (1999) 307-314.
-
(1999)
Neurochem. Res.
, vol.24
, pp. 307-314
-
-
Vaccaro, A.M.1
Salvioli, R.2
Tatti, M.3
Ciaffoni, F.4
-
14
-
-
0034697239
-
Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids
-
DOI 10.1016/S0014-5793(00)01417-4, PII S0014579300014174
-
R. Salvioli, M. Tatti, F. Ciaffoni, A.M. Vaccaro, Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids, FEBS Lett. 472 (2000) 17-21. (Pubitemid 30224578)
-
(2000)
FEBS Letters
, vol.472
, Issue.1
, pp. 17-21
-
-
Salvioli, R.1
Tatti, M.2
Ciaffoni, F.3
Vaccaro, A.M.4
-
15
-
-
0028948823
-
Structural analysis of Saposin C and B
-
A.M. Vaccaro, R. Salvioli, A. Barca, M. Tatti, F. Ciaffoni, B. Maras, R. Siciliano, F. Zappacosta, A. Amoresano, P. Pucci, Structural analysis of Saposin C and B, J. Biol. Chem. 270 (1995) 9953-9960.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 9953-9960
-
-
Vaccaro, A.M.1
Salvioli, R.2
Barca, A.3
Tatti, M.4
Ciaffoni, F.5
Maras, B.6
Siciliano, R.7
Zappacosta, F.8
Amoresano, A.9
Pucci, P.10
-
16
-
-
0028366092
-
Functional human Saposins expressed in Escherichia coli
-
X. Qi, T. Leonova, G. Grabowski, Functional human Saposins expressed in Escherichia coli, J. Biol. Chem. 269 (1994) 16746-16753.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 16746-16753
-
-
Qi, X.1
Leonova, T.2
Grabowski, G.3
-
17
-
-
0347625853
-
Solution Structure of Human Saposin C: PH-Dependent Interaction with Phospholipid Vesicles
-
DOI 10.1021/bi0301338
-
E. de Alba, S. Weiler, N. Tjandra, Solution structure of human Saposin C: pH-dependent interaction with phospholipid vesicles, Biochemistry 42 (2003) 14729-14740. (Pubitemid 37553501)
-
(2003)
Biochemistry
, vol.42
, Issue.50
, pp. 14729-14740
-
-
De Alba, E.1
Weiler, S.2
Tjandra, N.3
-
18
-
-
33746482701
-
Crystal structures of saposins A and C
-
DOI 10.1110/ps.062256606
-
V.E. Ahn, P. Leyko, J. Alattia, L. Chien, G.G. Privé, Crystal structures of Saposins A and C, Protein Sci. 15 (2006) 1849-1857. (Pubitemid 44141503)
-
(2006)
Protein Science
, vol.15
, Issue.8
, pp. 1849-1857
-
-
Ahn, V.E.1
Leyko, P.2
Alattia, J.-R.3
Chen, L.4
Prive, G.G.5
-
19
-
-
33646475760
-
Crystallization and preliminary characterization of three different crystal forms of human Saposin C heterologously expressed in Pichia pastoris
-
R. Schultz-Heienbrok, N. Remmel, R. Klingenstein, M. Rossocha, K. Sandhoff, W. Saenger, T. Maier, Crystallization and preliminary characterization of three different crystal forms of human Saposin C heterologously expressed in Pichia pastoris, Acta Crystallogr., Sect. F: Struct. Biol. Cryst. Commun. 62 (2006) 117-120.
-
(2006)
Acta Crystallogr., Sect. F: Struct. Biol. Cryst. Commun.
, vol.62
, pp. 117-120
-
-
Schultz-Heienbrok, R.1
Remmel, N.2
Klingenstein, R.3
Rossocha, M.4
Sandhoff, K.5
Saenger, W.6
Maier, T.7
-
20
-
-
10544244161
-
Linking genome and proteome by mass spectrometry: Large-scale identification of yeast proteins from two dimensional gels
-
DOI 10.1073/pnas.93.25.14440
-
A. Schevchenko, O.N. Jensen, A.V. Podtelejnikov, F. Sagliocco, M. Wilm, O. Vorm, P. Mortensen, A. Schevchenko, H. Boucherie, M. Mann, Linking genome and proteome by mass spectrometry: large-scale identification of yeast proteins from two dimensional gels, Proc. Natl. Acad. Sci. USA 93 (1996) 14440-14445. (Pubitemid 26418985)
-
(1996)
Proceedings of the National Academy of Sciences of the United States of America
, vol.93
, Issue.25
, pp. 14440-14445
-
-
Shevchenko, A.1
Jensen, O.N.2
Podtelejnikov, A.V.3
Sagliocco, F.4
Wilm, M.5
Vorm, O.6
Mortensen, P.7
Shevchenko, A.8
Boucherie, H.9
Mann, M.10
-
21
-
-
23944451593
-
370 → Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and Saposin C
-
370 → Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and Saposin C, Biochem. J. 390 (2005) 95-103.
-
(2005)
Biochem. J.
, vol.390
, pp. 95-103
-
-
Salvioli, R.1
Tatti, M.2
Scarpa, S.3
Moavero, S.M.4
Ciaffoni, F.5
Felicetti, F.6
Kaneski, C.R.7
Brady, R.O.8
Vaccaro, A.M.9
-
22
-
-
36248950739
-
Third case of Gaucher disease with Sap C deficiency and evaluation of twelve months' therapy by miglustat
-
D. Amsellem, D. Rodriguez, M.T. Vanier, N. Khayat, G. Millat, M. Campello, C. Guillame, T. Billette De Villemeur, Third case of Gaucher disease with Sap C deficiency and evaluation of twelve months' therapy by miglustat, J. Inherit. Metab. Dis. 28 (Suppl. 1) (2005) 152.
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, Issue.SUPPL. 1
, pp. 152
-
-
Amsellem, D.1
Rodriguez, D.2
Vanier, M.T.3
Khayat, N.4
Millat, G.5
Campello, M.6
Guillame, C.7
Billette De Villemeur, T.8
-
23
-
-
0023810855
-
The carbohydrate moiety of the activator protein for glucosylceramide beta-glucosidase
-
A. Sano, N.S. Radin, The carbohydrate moiety of the activator protein for glucosylceramide beta-glucosidase, Biochem. Biophys. Res. Commun. 154 (1988) 1197-1203.
-
(1988)
Biochem. Biophys. Res. Commun.
, vol.154
, pp. 1197-1203
-
-
Sano, A.1
Radin, N.S.2
-
24
-
-
0024791636
-
Sphingolipid hydrolase activator proteins and their precursors
-
DOI 10.1016/0006-291X(89)92728-9
-
A. Sano, T. Hineno, T. Mizuno, K. Kondoh, S. Ueno, Y. Kakimoto, K. Inui, Sphingolipid hydrolase activator proteins and their precursors, Biochem. Biophys. Res. Commun. 165 (1989) 1191-1197. (Pubitemid 20029834)
-
(1989)
Biochemical and Biophysical Research Communications
, vol.165
, Issue.3
, pp. 1191-1197
-
-
Sano, A.1
Hineno, T.2
Mizuno, T.3
Kondoh, K.4
Ueno, S.5
Kakimoto, Y.6
Inui, K.7
-
25
-
-
0015154711
-
Gaucher's disease: Deficiency of 'acid'-glucosidase and reconstitution of enzyme activity in vitro
-
M. Ho, J.S. O' Brien, Gaucher's disease: deficiency of 'acid'-glucosidase and reconstitution of enzyme activity in vitro, Proc. Natl. Acad. Sci. USA 68 (1971) 2810-2813.
-
(1971)
Proc. Natl. Acad. Sci. USA
, vol.68
, pp. 2810-2813
-
-
Ho, M.1
O'Brien, J.S.2
|