-
1
-
-
68149132035
-
Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases
-
Pohl S, Marschner K, Storch S, Braulke T: Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases. Biol Chem 2009, 390:521-527
-
(2009)
Biol Chem
, vol.390
, pp. 521-527
-
-
Pohl, S.1
Marschner, K.2
Storch, S.3
Braulke, T.4
-
2
-
-
0001261457
-
I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
-
Edited by Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. New York, McGraw-Hill Inc.
-
Kornfeld S, Sly WS: I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. The Metabolic and Molecular Bases of Inherited Disease. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. New York, McGraw-Hill Inc., 2001, pp 3421-3452
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Kornfeld, S.1
Sly, W.S.2
-
4
-
-
27744606539
-
The alpha- and beta-subunits of the human UDP-N-acetylglucosamine: Lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA
-
Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, Canfield WM: The alpha- and beta-subunits of the human UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J Biol Chem 2005, 280:36141-36149
-
(2005)
J Biol Chem
, vol.280
, pp. 36141-36149
-
-
Kudo, M.1
Bao, M.2
D'Souza, A.3
Ying, F.4
Pan, H.5
Roe, B.A.6
Canfield, W.M.7
-
5
-
-
27144550841
-
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase
-
DOI 10.1038/nm1305, PII N1305
-
Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T: Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med 2005, 11:1109-1112 (Pubitemid 41486834)
-
(2005)
Nature Medicine
, vol.11
, Issue.10
, pp. 1109-1112
-
-
Tiede, S.1
Storch, S.2
Lubke, T.3
Henrissat, B.4
Bargal, R.5
Raas-Rothschild, A.6
Braulke, T.7
-
6
-
-
19244386351
-
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
-
Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM: Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest 2000, 105:673-681
-
(2000)
J Clin Invest
, vol.105
, pp. 673-681
-
-
Raas-Rothschild, A.1
Cormier-Daire, V.2
Bao, M.3
Genin, E.4
Salomon, R.5
Brewer, K.6
Zeigler, M.7
Mandel, H.8
Toth, S.9
Roe, B.10
Munnich, A.11
Canfield, W.M.12
-
7
-
-
0019497937
-
Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts
-
Hasilik A, Waheed A, von Figura K: Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biochem Biophys Res Commun 1981, 98:761-767
-
(1981)
Biochem Biophys Res Commun
, vol.98
, pp. 761-767
-
-
Hasilik, A.1
Waheed, A.2
Von Figura, K.3
-
8
-
-
0019420191
-
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine: Glycoprotein N-acetylglucosaminylphosphotransferase activity
-
Reitman ML, Varki A, Kornfeld S: Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine: glycoprotein N- acetylglucosaminylphosphotransferase activity. J Clin Invest 1981, 67:1574-1579
-
(1981)
J Clin Invest
, vol.67
, pp. 1574-1579
-
-
Reitman, M.L.1
Varki, A.2
Kornfeld, S.3
-
9
-
-
33344471661
-
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc- phosphotransferase alpha/beta -subunits precursor gene
-
Kudo M, Brem MS, Canfield WM: Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta -subunits precursor gene. Am J Hum Genet 2006, 78:451-463
-
(2006)
Am J Hum Genet
, vol.78
, pp. 451-463
-
-
Kudo, M.1
Brem, M.S.2
Canfield, W.M.3
-
10
-
-
0016790886
-
Mucolipidosis III: Clinical and laboratory findings
-
Kelly TE, Thomas GH, Taylor HA, McKusick VA: Mucolipidosis III: clinical and laboratory findings. Birth Defects Orig Artic Ser 1975, 11:295-299
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 295-299
-
-
Kelly, T.E.1
Thomas, G.H.2
Taylor, H.A.3
McKusick, V.A.4
-
11
-
-
0014716309
-
The genetic mucolipidoses. Diagnosis and differential diagnosis
-
Spranger JW, Wiedemann HR: The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik 1970, 9:113-139
-
(1970)
Humangenetik
, vol.9
, pp. 113-139
-
-
Spranger, J.W.1
Wiedemann, H.R.2
-
12
-
-
0016590510
-
Accumulation of 32S-mucopolysaccharides in cultured mucolipidosis cells
-
Hieber V, Distler J, Jourdian GW, Schmickel R: Accumulation of 32S-mucopolysaccharides in cultured mucolipidosis cells. Birth Defects Orig Artic Ser 1975, 11:307-310
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 307-310
-
-
Hieber, V.1
Distler, J.2
Jourdian, G.W.3
Schmickel, R.4
-
13
-
-
33746535432
-
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
-
Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A: When Mucolipidosis III meets Mucolipidosis II: gNPTA gene mutations in 24 patients. Mol Genet Metab 2006, 88:359-363
-
(2006)
Mol Genet Metab
, vol.88
, pp. 359-363
-
-
Bargal, R.1
Zeigler, M.2
Abu-Libdeh, B.3
Zuri, V.4
Mandel, H.5
Ben Neriah, Z.6
Stewart, F.7
Elcioglu, N.8
Hindi, T.9
Le Merrer, M.10
Bach, G.11
Raas-Rothschild, A.12
-
14
-
-
63149172776
-
Mucolipidosis II and III alpha/beta: Mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
-
Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N: Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 2009, 54:145-151
-
(2009)
J Hum Genet
, vol.54
, pp. 145-151
-
-
Otomo, T.1
Muramatsu, T.2
Yorifuji, T.3
Okuyama, T.4
Nakabayashi, H.5
Fukao, T.6
Ohura, T.7
Yoshino, M.8
Tanaka, A.9
Okamoto, N.10
Inui, K.11
Ozono, K.12
Sakai, N.13
-
15
-
-
25444436697
-
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA
-
Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK: Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. Hum Mutat 2005, 26:308-314
-
(2005)
Hum Mutat
, vol.26
, pp. 308-314
-
-
Paik, K.H.1
Song, S.M.2
Ki, C.S.3
Yu, H.W.4
Kim, J.S.5
Min, K.H.6
Chang, S.H.7
Yoo, E.J.8
Lee, I.J.9
Kwan, E.K.10
Han, S.J.11
Jin, D.K.12
-
16
-
-
2342532417
-
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
-
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M: Genomic organisation of the UDP-N-acetylglucosamine-1- phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet 2004, 41:e52
-
(2004)
J Med Genet
, vol.41
-
-
Raas-Rothschild, A.1
Bargal, R.2
Goldman, O.3
Ben-Asher, E.4
Groener, J.E.5
Toutain, A.6
Stemmer, E.7
Ben-Neriah, Z.8
Flusser, H.9
Beemer, F.A.10
Penttinen, M.11
Olender, T.12
Rein, A.J.13
Bach, G.14
Zeigler, M.15
-
17
-
-
0023250992
-
Is movement of mannose 6-phosphate-specific receptor triggered by binding of lysosomal enzymes?
-
Braulke T, Gartung C, Hasilik A, von Figura K: Is movement of mannose 6-phosphate-specific receptor triggered by binding of lysosomal enzymes? J Cell Biol 1987, 104:1735-1742
-
(1987)
J Cell Biol
, vol.104
, pp. 1735-1742
-
-
Braulke, T.1
Gartung, C.2
Hasilik, A.3
Von Figura, K.4
-
19
-
-
2942550031
-
Generation of antibody libraries: PCR amplification and assembly of light- and heavy-chain coding sequences
-
Edited by Barbas CF III, Burton DR, Scott JK, Silverman GJ. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press
-
Andris-Widhopf J, Steinberger P, Fuller R, Rader C, Barbas III CF: Generation of antibody libraries: PCR amplification and assembly of light- and heavy-chain coding sequences. Phage-Display: A Laboratory Manual. Edited by Barbas CF III, Burton DR, Scott JK, Silverman GJ. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, 2001, pp 9.79-79.89
-
(2001)
Phage-Display: A Laboratory Manual
-
-
Andris-Widhopf, J.1
Steinberger, P.2
Fuller, R.3
Rader, C.4
Barbas III, C.F.5
-
20
-
-
0033784939
-
Quantitative analyses of binding affinity and specificity for glycolipid receptors by surface plasmon resonance
-
MacKenzie CR, Hirama T: Quantitative analyses of binding affinity and specificity for glycolipid receptors by surface plasmon resonance. Methods Enzymol 2000, 312:205-216
-
(2000)
Methods Enzymol
, vol.312
, pp. 205-216
-
-
MacKenzie, C.R.1
Hirama, T.2
-
21
-
-
0025837141
-
Bacterial expression and secretion of various single-chain Fv genes encoding proteins specific for a Salmonella serotype B O-antigen
-
Anand NN, Mandal S, MacKenzie CR, Sadowska J, Sigurskjold B, Young NM, Bundle DR, Narang SA: Bacterial expression and secretion of various single-chain Fv genes encoding proteins specific for a Salmonella serotype B O-antigen. J Biol Chem 1991, 266:21874-21879
-
(1991)
J Biol Chem
, vol.266
, pp. 21874-21879
-
-
Anand, N.N.1
Mandal, S.2
MacKenzie, C.R.3
Sadowska, J.4
Sigurskjold, B.5
Young, N.M.6
Bundle, D.R.7
Narang, S.A.8
-
22
-
-
24344454451
-
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site
-
Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T: A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Hum Mutat 2004, 24:535
-
(2004)
Hum Mutat
, vol.24
, pp. 535
-
-
Tiede, S.1
Cantz, M.2
Raas-Rothschild, A.3
Muschol, N.4
Bürger, F.5
Ullrich, K.6
Braulke, T.7
-
23
-
-
0035665523
-
MDCK cells secrete neutral proteases cleaving insulin-like growth factor-binding protein-2 to -6
-
Shalamanova L, Kübler B, Scharf JG, Braulke T: MDCK cells secrete neutral proteases cleaving insulin-like growth factor-binding protein-2 to -6. Am J Physiol Endocrinol Metab 2001, 281:E1221-E1229 (Pubitemid 34001197)
-
(2001)
American Journal of Physiology - Endocrinology and Metabolism
, vol.281
, Issue.6
-
-
Shalamanova, L.1
Kubler, B.2
Scharf, J.-G.3
Braulke, T.4
-
24
-
-
0025232318
-
Insulin-like growth factors I and II stimulate endocytosis but do not affect sorting of lysosomal enzymes in human fibroblasts
-
Braulke T, Tippmer S, Chao H-J, von Figura K: Insulin-like growth factors I and II stimulate endocytosis but do not affect sorting of lysosomal enzymes in human fibroblasts. J Biol Chem 1990, 265:6650-6655 (Pubitemid 20144541)
-
(1990)
Journal of Biological Chemistry
, vol.265
, Issue.12
, pp. 6650-6655
-
-
Braulke, T.1
Tippmer, S.2
Chao, H.-J.3
Von Figura, K.4
-
25
-
-
0037266549
-
A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells
-
DOI 10.1042/BJ20021226
-
Partanen S, Storch S, Löffler HG, Hasilik A, TynneläJ, Braulke T: A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells. Biochem J 2003, 369:55-62 (Pubitemid 36174125)
-
(2003)
Biochemical Journal
, vol.369
, Issue.1
, pp. 55-62
-
-
Partanen, S.1
Storch, S.2
Loffler, H.-G.3
Hasilik, A.4
Tyynela, J.5
Braulke, T.6
-
26
-
-
0036668520
-
Proteomic analysis of human lysosomes: Application to monocytic and breast cancer cells
-
Journet A, Chapel A, Kieffer S, Roux F, Garin J: Proteomic analysis of human lysosomes: application to monocytic and breast cancer cells. Proteomics 2002, 2:1026-1040
-
(2002)
Proteomics
, vol.2
, pp. 1026-1040
-
-
Journet, A.1
Chapel, A.2
Kieffer, S.3
Roux, F.4
Garin, J.5
-
28
-
-
39049122146
-
Proteomics analysis of serum from mutant mice reveals lysosomal proteins selectively transported by each of the two mannose 6-phosphate receptors
-
DOI 10.1074/mcp.M700217-MCP200
-
Qian M, Sleat DE, Zheng H, Moore D, Lobel P: Proteomics analysis of serum from mutant mice reveals lysosomal proteins selectively transported by each of the two mannose 6-phosphate receptors. Mol Cell Proteomics 2008, 7:58-70 (Pubitemid 351248234)
-
(2008)
Molecular and Cellular Proteomics
, vol.7
, Issue.1
, pp. 58-70
-
-
Qian, M.1
Sleat, D.E.2
Zheng, H.3
Moore, D.4
Lobel, P.5
-
29
-
-
58149107948
-
Strategies for carbohydrate recognition by the mannose 6-phosphate receptors
-
Dahms NM, Olson LJ, Kim JJ: Strategies for carbohydrate recognition by the mannose 6-phosphate receptors. Glycobiology 2008, 18:664-678
-
(2008)
Glycobiology
, vol.18
, pp. 664-678
-
-
Dahms, N.M.1
Olson, L.J.2
Kim, J.J.3
-
30
-
-
0031054052
-
Biophysical and biological properties of naturally occurring high molecular weight insulin-like growth factor II variants
-
DOI 10.1074/jbc.272.8.4804
-
Valenzano KJ, Heath-Monnig E, Tollefsen SE, Lake M, Lobel P: Biophysical and biological properties of naturally occurring high molecular weight insulin-like growth factor II variants. J Biol Chem 1997, 272:4804-4813 (Pubitemid 27090026)
-
(1997)
Journal of Biological Chemistry
, vol.272
, Issue.8
, pp. 4804-4813
-
-
Valenzano, K.J.1
Heath-Monnig, E.2
Tollefsen, S.E.3
Lake, M.4
Lobel, P.5
-
31
-
-
2942558373
-
Structure of uPAR, plasminogen, and sugar-binding sites of the 300 kDa mannose 6-phosphate receptor
-
Olson LJ, Yammani RD, Dahms NM, Kim JJ: Structure of uPAR, plasminogen, and sugar-binding sites of the 300 kDa mannose 6-phosphate receptor. EMBO J 2004, 23:2019-2028
-
(2004)
EMBO J
, vol.23
, pp. 2019-2028
-
-
Olson, L.J.1
Yammani, R.D.2
Dahms, N.M.3
Kim, J.J.4
-
32
-
-
0024333810
-
Ligand interactions of the cation-dependent mannose 6-phosphate receptor. Comparison with the cation-independent mannose 6-phosphate receptor
-
Tong PY, Kornfeld S: Ligand interactions of the cation-dependent mannose 6-phosphate receptor. Comparison with the cation-independent mannose 6-phosphate receptor J Biol Chem 1989, 264:7970-7975
-
(1989)
J Biol Chem
, vol.264
, pp. 7970-7975
-
-
Tong, P.Y.1
Kornfeld, S.2
-
33
-
-
62949116803
-
Lysosomal disorders: From storage to cellular damage
-
Ballabio A, Gieselmann V: Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta 2009, 1793:684-696
-
(2009)
Biochim Biophys Acta
, vol.1793
, pp. 684-696
-
-
Ballabio, A.1
Gieselmann, V.2
-
34
-
-
50649102135
-
Enzyme replacement therapy for lysosomal storage disorders
-
Keutzer J, Yee J: Enzyme replacement therapy for lysosomal storage disorders. Hum Gene Ther 2008, 19:857
-
(2008)
Hum Gene Ther
, vol.19
, pp. 857
-
-
Keutzer, J.1
Yee, J.2
|