Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase
Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T (2006)
Nature Medicine 11(10): 1109-1112.
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Autor*in
Tiede, Stephan;
Storch, Stephan;
Lübke, TorbenUniBi ;
Henrissat, Bernhard;
Bargal, Ruth;
Raas-Rothschild, Annick;
Braulke, Thomas
Einrichtung
Erscheinungsjahr
2006
Zeitschriftentitel
Nature Medicine
Band
11
Ausgabe
10
Seite(n)
1109-1112
ISSN
1078-8956
Page URI
https://pub.uni-bielefeld.de/record/1940057
Zitieren
Tiede S, Storch S, Lübke T, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine. 2006;11(10):1109-1112.
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., & Braulke, T. (2006). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine, 11(10), 1109-1112. https://doi.org/10.1038/nm1305
Tiede, Stephan, Storch, Stephan, Lübke, Torben, Henrissat, Bernhard, Bargal, Ruth, Raas-Rothschild, Annick, and Braulke, Thomas. 2006. “Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase”. Nature Medicine 11 (10): 1109-1112.
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., and Braulke, T. (2006). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine 11, 1109-1112.
Tiede, S., et al., 2006. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine, 11(10), p 1109-1112.
S. Tiede, et al., “Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase”, Nature Medicine, vol. 11, 2006, pp. 1109-1112.
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. Nature Medicine. 11, 1109-1112 (2006).
Tiede, Stephan, Storch, Stephan, Lübke, Torben, Henrissat, Bernhard, Bargal, Ruth, Raas-Rothschild, Annick, and Braulke, Thomas. “Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase”. Nature Medicine 11.10 (2006): 1109-1112.
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Putative uncharacterized protein DKFZp762B226 (UNIPROT: Q68CM9)
Organism: Homo sapiens
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cDNA FLJ10959 fis, clone PLACE1000562 (UNIPROT: Q9NV34)
Organism: Homo sapiens
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Putative uncharacterized protein DKFZp762B226 (UNIPROT: Q9NPW9)
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Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert AK, Pohl S, Lübke T, Michalski JC, Käkelä R, Walkley SU, Braulke T., Brain 135(pt 9), 2012
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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.
Heo JS, Choi KY, Sohn SH, Kim C, Kim YJ, Shin SH, Lee JM, Lee J, Sohn JA, Lim BC, Lee JA, Choi CW, Kim EK, Kim HS, Kim BI, Choi JH., Korean J Pediatr 55(11), 2012
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Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.
Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S., J Biol Chem 286(7), 2011
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Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S., J Biol Chem 286(7), 2011
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Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism.
Otomo T, Yamamoto T, Fujikawa Y, Shimotsuji T, Ozono K., Clin Pediatr Endocrinol 20(1), 2011
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Otomo T, Yamamoto T, Fujikawa Y, Shimotsuji T, Ozono K., Clin Pediatr Endocrinol 20(1), 2011
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A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
Ma GC, Ke YY, Chang SP, Lee DJ, Chen M., Am J Med Genet A 155A(4), 2011
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Ma GC, Ke YY, Chang SP, Lee DJ, Chen M., Am J Med Genet A 155A(4), 2011
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A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.
Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S., Science 333(6038), 2011
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Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S., Science 333(6038), 2011
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Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.
Otomo T, Higaki K, Nanba E, Ozono K, Sakai N., J Biol Chem 286(40), 2011
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Otomo T, Higaki K, Nanba E, Ozono K, Sakai N., J Biol Chem 286(40), 2011
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Ebola virus entry requires the cholesterol transporter Niemann-Pick C1.
Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, Kuehne AI, Kranzusch PJ, Griffin AM, Ruthel G, Dal Cin P, Dye JM, Whelan SP, Chandran K, Brummelkamp TR., Nature 477(7364), 2011
PMID: 21866103
Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, Kuehne AI, Kranzusch PJ, Griffin AM, Ruthel G, Dal Cin P, Dye JM, Whelan SP, Chandran K, Brummelkamp TR., Nature 477(7364), 2011
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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ., J Med Genet 47(1), 2010
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Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ., J Med Genet 47(1), 2010
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Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.
Qian Y, Lee I, Lee WS, Qian M, Kudo M, Canfield WM, Lobel P, Kornfeld S., J Biol Chem 285(5), 2010
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Qian Y, Lee I, Lee WS, Qian M, Kudo M, Canfield WM, Lobel P, Kornfeld S., J Biol Chem 285(5), 2010
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Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T., Am J Med Genet A 152A(1), 2010
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Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T., Am J Med Genet A 152A(1), 2010
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The natural history and osteodystrophy of mucolipidosis types II and III.
David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D., J Paediatr Child Health 46(6), 2010
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David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D., J Paediatr Child Health 46(6), 2010
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A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.
Müller-Loennies S, Galliciotti G, Kollmann K, Glatzel M, Braulke T., Am J Pathol 177(1), 2010
PMID: 20472886
Müller-Loennies S, Galliciotti G, Kollmann K, Glatzel M, Braulke T., Am J Pathol 177(1), 2010
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Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.
Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T., J Biol Chem 285(31), 2010
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Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T., J Biol Chem 285(31), 2010
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RNAi screen identifies a role for adaptor protein AP-3 in sorting to the regulated secretory pathway.
Asensio CS, Sirkis DW, Edwards RH., J Cell Biol 191(6), 2010
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Asensio CS, Sirkis DW, Edwards RH., J Cell Biol 191(6), 2010
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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., J Hum Genet 54(3), 2009
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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., J Hum Genet 54(3), 2009
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Comparative pathology of murine mucolipidosis types II and IIIC.
Vogel P, Payne BJ, Read R, Lee WS, Gelfman CM, Kornfeld S., Vet Pathol 46(2), 2009
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Mass spectrometry in the characterization of human genetic N-glycosylation defects.
Barone R, Sturiale L, Garozzo D., Mass Spectrom Rev 28(3), 2009
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Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T., Hum Mutat 30(6), 2009
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Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T., Hum Mutat 30(6), 2009
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Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
Pohl S, Marschner K, Storch S, Braulke T., Biol Chem 390(7), 2009
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Pohl S, Marschner K, Storch S, Braulke T., Biol Chem 390(7), 2009
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Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S., Clin Genet 76(1), 2009
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Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S., Clin Genet 76(1), 2009
PMID: 19659762
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.
Otomo T, Higaki K, Nanba E, Ozono K, Sakai N., Mol Genet Metab 98(4), 2009
PMID: 19656701
Otomo T, Higaki K, Nanba E, Ozono K, Sakai N., Mol Genet Metab 98(4), 2009
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Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.
Flanagan-Steet H, Sias C, Steet R., Am J Pathol 175(5), 2009
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Flanagan-Steet H, Sias C, Steet R., Am J Pathol 175(5), 2009
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Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
Zarghooni M, Dittakavi SS., Am J Med Genet A 149A(12), 2009
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Zarghooni M, Dittakavi SS., Am J Med Genet A 149A(12), 2009
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An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.
Tappino B, Regis S, Corsolini F, Filocamo M., Mol Genet Metab 93(2), 2008
PMID: 17964840
Tappino B, Regis S, Corsolini F, Filocamo M., Mol Genet Metab 93(2), 2008
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Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
Plante M, Claveau S, Lepage P, Lavoie EM, Brunet S, Roquis D, Morin C, Vézina H, Laprise C., Clin Genet 73(3), 2008
PMID: 18190596
Plante M, Claveau S, Lepage P, Lavoie EM, Brunet S, Roquis D, Morin C, Vézina H, Laprise C., Clin Genet 73(3), 2008
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Molecular order in mucolipidosis II and III nomenclature.
Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA., Am J Med Genet A 146A(4), 2008
PMID: 18203164
Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA., Am J Med Genet A 146A(4), 2008
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Molecular analysis of the GlcNac-1-phosphotransferase.
Braulke T, Pohl S, Storch S., J Inherit Metab Dis 31(2), 2008
PMID: 18425436
Braulke T, Pohl S, Storch S., J Inherit Metab Dis 31(2), 2008
PMID: 18425436
I-Cell Disease (Mucolipidosis II) Presenting as Neonatal Fractures: A Case for Continued Monitoring of Serum Parathyroid Hormone Levels.
Khan A, Ho J, Pender A, Wei X, Potter M., Clin Pediatr Endocrinol 17(3), 2008
PMID: 24790368
Khan A, Ho J, Pender A, Wei X, Potter M., Clin Pediatr Endocrinol 17(3), 2008
PMID: 24790368
Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells.
Ho CY, Tang NL, Yeung AK, Lau AK, Hui J, Lo AW., J Mol Med (Berl) 85(4), 2007
PMID: 17160405
Ho CY, Tang NL, Yeung AK, Lau AK, Hui J, Lo AW., J Mol Med (Berl) 85(4), 2007
PMID: 17160405
Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases.
Lee WS, Payne BJ, Gelfman CM, Vogel P, Kornfeld S., J Biol Chem 282(37), 2007
PMID: 17652091
Lee WS, Payne BJ, Gelfman CM, Vogel P, Kornfeld S., J Biol Chem 282(37), 2007
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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., Am J Hum Genet 78(3), 2006
PMID: 16465621
Kudo M, Brem MS, Canfield WM., Am J Hum Genet 78(3), 2006
PMID: 16465621
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., Mol Genet Metab 88(4), 2006
PMID: 16630736
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., Mol Genet Metab 88(4), 2006
PMID: 16630736
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