-
1
-
-
0002426287
-
STS deficiency and X-linked ichthyosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D eds, McGraw-Hill: New York chapter 96, pp
-
Ballabio A, Shapiro LJ (1995) STS deficiency and X-linked ichthyosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill: New York Vol. II, chapter 96, pp. 2999-3022
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 2999-3022
-
-
Ballabio, A.1
Shapiro, L.J.2
-
2
-
-
0034987576
-
1.3 Å structure of arylsulfatase from Pseudomonas aeruginosa establishes the catalytic mechanism of sulfate ester cleavage in the sulfatase family
-
Boltes I, Czapinska H, Kahnert A, von Bulow R, Dierks T, Schmidt B, von Figura K, Kertesz MA, Uson I (2001) 1.3 Å structure of arylsulfatase from Pseudomonas aeruginosa establishes the catalytic mechanism of sulfate ester cleavage in the sulfatase family. Structure 9: 483-491
-
(2001)
Structure
, vol.9
, pp. 483-491
-
-
Boltes, I.1
Czapinska, H.2
Kahnert, A.3
von Bulow, R.4
Dierks, T.5
Schmidt, B.6
von Figura, K.7
Kertesz, M.A.8
Uson, I.9
-
3
-
-
33645110474
-
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery
-
Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP (2006) Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet 15: 1225-1236
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1225-1236
-
-
Cardone, M.1
Polito, V.A.2
Pepe, S.3
Mann, L.4
D'Azzo, A.5
Auricchio, A.6
Ballabio, A.7
Cosma, M.P.8
-
4
-
-
10744220468
-
-
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (2003) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res 13: 2265-2270
-
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (2003) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res 13: 2265-2270
-
-
-
-
5
-
-
0037509873
-
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases
-
Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 113: 445-456
-
(2003)
Cell
, vol.113
, pp. 445-456
-
-
Cosma, M.P.1
Pepe, S.2
Annunziata, I.3
Newbold, R.F.4
Grompe, M.5
Parenti, G.6
Ballabio, A.7
-
6
-
-
2642580983
-
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
-
Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A (2004) Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat 23: 576-581
-
(2004)
Hum Mutat
, vol.23
, pp. 576-581
-
-
Cosma, M.P.1
Pepe, S.2
Parenti, G.3
Settembre, C.4
Annunziata, I.5
Wade-Martins, R.6
Di Domenico, C.7
Di Natale, P.8
Mankad, A.9
Cox, B.10
Uziel, G.11
Mancini, G.M.12
Zammarchi, E.13
Donati, M.A.14
Kleijer, W.J.15
Filocamo, M.16
Carrozzo, R.17
Carella, M.18
Ballabio, A.19
-
7
-
-
0038316341
-
ER-mediated phagocytosis: A new membrane for new functions
-
Desjardins M (2003) ER-mediated phagocytosis: a new membrane for new functions. Nat Rev Immunol 3: 280-291
-
(2003)
Nat Rev Immunol
, vol.3
, pp. 280-291
-
-
Desjardins, M.1
-
8
-
-
19344367884
-
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme
-
Dierks T, Dickmanns A, Preusser-Kunze A, Schmidt B, Mariappan M, von Figura K, Ficner R, Rudolph MG (2005) Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell 121: 541-552
-
(2005)
Cell
, vol.121
, pp. 541-552
-
-
Dierks, T.1
Dickmanns, A.2
Preusser-Kunze, A.3
Schmidt, B.4
Mariappan, M.5
von Figura, K.6
Ficner, R.7
Rudolph, M.G.8
-
9
-
-
0037847425
-
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme
-
Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 113: 435-444
-
(2003)
Cell
, vol.113
, pp. 435-444
-
-
Dierks, T.1
Schmidt, B.2
Borissenko, L.V.3
Peng, J.4
Preusser, A.5
Mariappan, M.6
von Figura, K.7
-
11
-
-
34247137829
-
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies
-
Fraldi A, Biffi A, Lombardi A, Visigalli I, Pepe S, Settembre C, Nusco E, Auricchio A, Naldini L, Ballabio A, Cosma MP (2007) SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Biochem J 403: 305-312
-
(2007)
Biochem J
, vol.403
, pp. 305-312
-
-
Fraldi, A.1
Biffi, A.2
Lombardi, A.3
Visigalli, I.4
Pepe, S.5
Settembre, C.6
Nusco, E.7
Auricchio, A.8
Naldini, L.9
Ballabio, A.10
Cosma, M.P.11
-
12
-
-
0033224214
-
Evidence for a COP-I-independent transport route from the Golgi complex to the endoplasmic reticulum
-
Girod A, Storrie B, Simpson JC, Johannes L, Goud B, Roberts LM, Lord JM, Nilsson T, Pepperkok R (1999) Evidence for a COP-I-independent transport route from the Golgi complex to the endoplasmic reticulum. Nat Cell Biol 1: 423-430
-
(1999)
Nat Cell Biol
, vol.1
, pp. 423-430
-
-
Girod, A.1
Storrie, B.2
Simpson, J.C.3
Johannes, L.4
Goud, B.5
Roberts, L.M.6
Lord, J.M.7
Nilsson, T.8
Pepperkok, R.9
-
13
-
-
0028198111
-
How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum
-
Helenius A (1994) How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum. Mol Biol Cell 5: 253-265
-
(1994)
Mol Biol Cell
, vol.5
, pp. 253-265
-
-
Helenius, A.1
-
14
-
-
0032541422
-
Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP)
-
Hiesberger T, Huttler S, Rohlmann A, Schneider W, Sandhoff K, Herz J (1998) Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP). EMBO J 17: 4617-4625
-
(1998)
EMBO J
, vol.17
, pp. 4617-4625
-
-
Hiesberger, T.1
Huttler, S.2
Rohlmann, A.3
Schneider, W.4
Sandhoff, K.5
Herz, J.6
-
15
-
-
0019332750
-
Human hepatocellular carcinoma cell lines secrete the major plasma proteins and hepatitis B surface antigen
-
Knowles BB, Howe CC, Aden DP (1980) Human hepatocellular carcinoma cell lines secrete the major plasma proteins and hepatitis B surface antigen. Science 209: 497-499
-
(1980)
Science
, vol.209
, pp. 497-499
-
-
Knowles, B.B.1
Howe, C.C.2
Aden, D.P.3
-
16
-
-
27144522268
-
-
Lagana A, Goetz JG, Y N, Altschuler Y, Nabi IR (2005) pH-specific sequestration of phosphoglucose isomerase/autocrine motility factor by fibronectin and heparan sulphate. J Cell Sci 118: 4175-4185
-
Lagana A, Goetz JG, Y N, Altschuler Y, Nabi IR (2005) pH-specific sequestration of phosphoglucose isomerase/autocrine motility factor by fibronectin and heparan sulphate. J Cell Sci 118: 4175-4185
-
-
-
-
17
-
-
0037040350
-
Mannose receptor-mediated regulation of serum glycoprotein homeostasis
-
Lee SJ, Evers S, Roeder D, Parlow AF, Risteli J, Risteli L, Lee YC, Feizi T, Langen H, Nussenzweig MC (2002) Mannose receptor-mediated regulation of serum glycoprotein homeostasis. Science 295: 1898-1901
-
(2002)
Science
, vol.295
, pp. 1898-1901
-
-
Lee, S.J.1
Evers, S.2
Roeder, D.3
Parlow, A.F.4
Risteli, J.5
Risteli, L.6
Lee, Y.C.7
Feizi, T.8
Langen, H.9
Nussenzweig, M.C.10
-
18
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D eds, Mc Graw-Hill: New York pp
-
Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) The Metabolic and Molecular Basis of Inherited Disease. Mc Graw-Hill: New York pp. 3421-3452
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
19
-
-
33746174512
-
The sorting and trafficking of lysosomal proteins
-
Ni X, Canuel M, Morales CR (2006) The sorting and trafficking of lysosomal proteins. Histol Histopathol 21: 899-913
-
(2006)
Histol Histopathol
, vol.21
, pp. 899-913
-
-
Ni, X.1
Canuel, M.2
Morales, C.R.3
-
20
-
-
33749510461
-
Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex
-
Nyfeler B, Zhang B, Ginsburg D, Kaufman RJ, Hauri HP (2006) Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex. Traffic 7: 1473-1481
-
(2006)
Traffic
, vol.7
, pp. 1473-1481
-
-
Nyfeler, B.1
Zhang, B.2
Ginsburg, D.3
Kaufman, R.J.4
Hauri, H.P.5
-
21
-
-
17644367200
-
Molecular characterization of the human Calpha-formylglycine-generating enzyme
-
Preusser-Kunze A, Mariappan M, Schmidt B, Gande SL, Mutenda K, Wenzel D, von Figura K, Dierks T (2005) Molecular characterization of the human Calpha-formylglycine-generating enzyme. J Biol Chem 280: 14900-14910
-
(2005)
J Biol Chem
, vol.280
, pp. 14900-14910
-
-
Preusser-Kunze, A.1
Mariappan, M.2
Schmidt, B.3
Gande, S.L.4
Mutenda, K.5
Wenzel, D.6
von Figura, K.7
Dierks, T.8
-
22
-
-
0034669117
-
Entry of ricin and Shiga toxin into cells: Molecular mechanisms and medical perspectives
-
Sandvig K, van Deurs B (2000) Entry of ricin and Shiga toxin into cells: molecular mechanisms and medical perspectives. EMBO J 19: 5943-5950
-
(2000)
EMBO J
, vol.19
, pp. 5943-5950
-
-
Sandvig, K.1
van Deurs, B.2
-
23
-
-
27744537538
-
Sulfatases and sulfatase modifying factors: An exclusive and promiscuous relationship
-
Sardiello M, Annunziata I, Roma G, Ballabio A (2005) Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Hum Mol Genet 14: 3203-3217
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3203-3217
-
-
Sardiello, M.1
Annunziata, I.2
Roma, G.3
Ballabio, A.4
-
24
-
-
0029130352
-
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
-
Schmidt B, Selmer T, Ingendoh A, von Figura K (1995) A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 82: 271-278
-
(1995)
Cell
, vol.82
, pp. 271-278
-
-
Schmidt, B.1
Selmer, T.2
Ingendoh, A.3
von Figura, K.4
-
25
-
-
34248353120
-
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency
-
Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A (2007) Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc Natl Acad Sci USA 104: 4506-4511
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 4506-4511
-
-
Settembre, C.1
Annunziata, I.2
Spampanato, C.3
Zarcone, D.4
Cobellis, G.5
Nusco, E.6
Zito, E.7
Tacchetti, C.8
Cosma, M.P.9
Ballabio, A.10
-
26
-
-
0022982241
-
Mannose receptor-mediated uptake of ricin toxin and ricin A chain by macrophages. Multiple intracellular pathways for a chain translocation
-
Simmons BM, Stahl PD, Russell JH (1986) Mannose receptor-mediated uptake of ricin toxin and ricin A chain by macrophages. Multiple intracellular pathways for a chain translocation. J Biol Chem 261: 7912-7920
-
(1986)
J Biol Chem
, vol.261
, pp. 7912-7920
-
-
Simmons, B.M.1
Stahl, P.D.2
Russell, J.H.3
-
27
-
-
33750619371
-
Identification and validation of mannose 6-phosphate glycoproteins in human plasma reveals a wide range of lysosomal and non-lysosomal proteins
-
Sleat DE, Wang Y, Sohar I, Lackland H, Li Y, Li H, Zheng H, Lobel P (2006) Identification and validation of mannose 6-phosphate glycoproteins in human plasma reveals a wide range of lysosomal and non-lysosomal proteins. Mol Cell Proteomics 5: 1942-1956
-
(2006)
Mol Cell Proteomics
, vol.5
, pp. 1942-1956
-
-
Sleat, D.E.1
Wang, Y.2
Sohar, I.3
Lackland, H.4
Li, Y.5
Li, H.6
Zheng, H.7
Lobel, P.8
-
28
-
-
0025410819
-
The macrophage mannose receptor: Current status
-
Stahl PD (1990) The macrophage mannose receptor: current status. Am J Respir Cell Mol Biol 2: 317-318
-
(1990)
Am J Respir Cell Mol Biol
, vol.2
, pp. 317-318
-
-
Stahl, P.D.1
-
29
-
-
0027535749
-
Structural requirements for high affinity binding of complex ligands by the macrophage mannose receptor
-
Taylor ME, Drickamer K (1993) Structural requirements for high affinity binding of complex ligands by the macrophage mannose receptor. J Biol Chem 268: 399-404
-
(1993)
J Biol Chem
, vol.268
, pp. 399-404
-
-
Taylor, M.E.1
Drickamer, K.2
-
30
-
-
23744477714
-
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2
-
Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP (2005) Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. EMBO Rep 6: 655-660
-
(2005)
EMBO Rep
, vol.6
, pp. 655-660
-
-
Zito, E.1
Fraldi, A.2
Pepe, S.3
Annunziata, I.4
Kobinger, G.5
Di Natale, P.6
Ballabio, A.7
Cosma, M.P.8
|