Molecular analysis of the GlcNac-1-phosphotransferase

Journal of Inherited Metabolic Disease

Volumn 31, Issue 2, 2008, Pages 253-257

  Braulke, T ^a   Pohl, S ^a   Storch, S ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; LYSOSOME ENZYME; MANNOSE 6 PHOSPHATE; N ACETYLGALACTOSAMINE 1 PHOSPHOTRANSFERASE; N ACETYLGALACTOSAMINE 1 PHOSPHOTRANSFERASE ALPHA BETA SUBUNIT PRECURSOR; PHOSPHOTRANSFERASE; TRANSFERASE; URIDINE DIPHOSPHATE; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE 1 PHOSPHOTRANSFERASE GAMMA SUBUNIT;

CELL LOSS; CONFERENCE PAPER; DISEASE MARKER; ENZYME ACTIVITY; ENZYME LOCALIZATION; ENZYME MODIFICATION; GENE IDENTIFICATION; GENETIC ANALYSIS; HUMAN; MUCOLIPIDOSIS TYPE 2; MUCOLIPIDOSIS TYPE 3; NONHUMAN; PRENATAL DIAGNOSIS; PROTEIN FUNCTION;

ANIMALS; DISEASE MODELS, ANIMAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LYSOSOMES; MUCOLIPIDOSES; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; STRUCTURE-ACTIVITY RELATIONSHIP; SUBSTRATE SPECIFICITY; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 43149123319     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0862-5     Document Type: Conference Paper

References (29)

1. M Bao JL Booth BJ Elemendorf WM Canfield 1996 Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure J Biol Chem 271 31437 31445 8940155 10.1074/jbc.271.25.14981 1:CAS:528:DyaK28Xns1aiur4%3D Bao M, Booth JL, Elemendorf BJ, Canfield WM (1996) BovineUDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. J Biol Chem 271: 31437–31445.
2. R Bargal M Zeiglera B Abu-Libdehb 2006 When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients Mol Genet Metab 88 359 363 16630736 10.1016/j.ymgme.2006.03.003 1:CAS:528:DC%2BD28Xns1Kjs7o%3D Bargal R, Zeiglera M, Abu-Libdehb B, et al (2006) When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab 88: 359–363.
3. P Freisinger J Padovani P Maroteaux 1992 An atypical form of mucolipidosis III J Med Genet 29 834 836 1453439 1:STN:280:DyaK3s%2FosFOisA%3D%3D Freisinger P, Padovani J, Maroteaux P (1992) An atypical form of mucolipidosis III. J Med Genet 29: 834–836.
4. SS Cathey M Kudo S Tiede 2008 Molecular order in mucolipidosis II and III nomenclature Am J Med Genet A146 512 513 10.1002/ajmg.a.32193 Cathey SS, Kudo M, Tiede S, et al (2008) Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A146: 512–513.
5. C Gelfman P Vogel TM Issa 2007 Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions Invest Ophthalmol Vis Sci 48 5221 5228 17962477 10.1167/iovs.07-0452 Gelfman CM, Vogel P, Issa TM, et al (2007) Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions. Invest Ophthalmol Vis Sci 48: 5221–5228.
6. NK Honey OT Mueller LE Little AL Miller TB Shows 1982 Mucolipidosis III is genetically heterogeneous Proc Natl Acad Sci U S A 79 7420 7424 6961420 10.1073/pnas.79.23.7420 1:STN:280:DyaL3s7hslKqsg%3D%3D Honey NK, Mueller OT, Little LE, Miller AL, Shows TB (1982) Mucolipidosis III is genetically heterogeneous. Proc Natl Acad Sci USA 79: 7420–7424.
7. R Kornfeld M Bao K Brewer 1999 Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase J Biol Chem 274 32778 32785 10551838 10.1074/jbc.274.46.32778 1:CAS:528:DyaK1MXntlygt7g%3D Kornfeld R, Bao M, Brewer K, et al (1999) Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. J Biol Chem 274: 32778–32785.
8. S Kornfeld WS Sly 2001 I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization CR Scriver AL Beaudet WS Sly D Valle B Childs KW Kinzler B Vogelstein The Metabolic and Molecular Bases of Inherited Disease 8 McGraw-Hill New York 3421 3452 Kornfeld S, Sly WS (2001) I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3421–3452.
9. M Kudo WM Canfield 2006 Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase J Biol Chem 281 11761 11768 16507578 10.1074/jbc.M513717200 1:CAS:528:DC%2BD28Xjslegu7s%3D Kudo M, Canfield WM (2006) Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase. J Biol Chem 281: 11761–11768.
10. M Kudo M Bao A D’Souza 2005 The alpha-and beta subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase are encoded by a single cDNA J Biol Chem 280 36141 36149 16120602 10.1074/jbc.M509008200 1:CAS:528:DC%2BD2MXhtFCjtrzI Kudo M, Bao M, D’Souza A, et al (2005) The alpha-and beta subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase are encoded by a single cDNA. J Biol Chem 280: 36141–36149.
11. M Kudo M Brem WM Canfield 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase α/β-subunits precursor gene Am J Hum Genet 78 451 463 16465621 10.1086/500849 1:CAS:528:DC%2BD28XitVWqtLo%3D Kudo M, Brem M, Canfield WM (2006) Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase α/β-subunits precursor gene. Am J Hum Genet 78: 451–463.
12. W Lee BJ Payne CM Gelfman P Vogel S Kornfeld 2007 Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases J Biol Chem 282 27198 27203 17652091 10.1074/jbc.M704067200 1:CAS:528:DC%2BD2sXhtVWjsLfM Lee W, Payne BJ, Gelfman CM, Vogel P, Kornfeld S (2007) Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases. J Biol Chem 282: 27198–27203.
13. LE Little OT Mueller NK Honey TB Shows AL Miller 1986 Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III J Biol Chem 261 733 738 3001079 1:CAS:528:DyaL28XhtVOgu7k%3D Little LE, Mueller OT, Honey NK, Shows TB, Miller AL (1986) Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. J Biol Chem 261: 733–738.
14. H Mazrier M Hoeven Van P Wang 2003 Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease J Hered 94 363 373 14557388 10.1093/jhered/esg080 1:CAS:528:DC%2BD3sXot1Cqurk%3D Mazrier H, Van Hoeven M, Wang P, et al (2003) Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. J Hered 94: 363–373.
15. K Paik S Song C Ki 2005 Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA Hum Mutat 26 308 314 16116615 10.1002/humu.20205 1:CAS:528:DC%2BD2MXhtFegt7vN Paik K, Song S, Ki C, et al (2005) Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA. Hum Mutat 26: 308–314.
16. M Plante S Claveau P Lepage 2008 Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population Clin Genet 73 236 244 18190596 1:CAS:528:DC%2BD1cXhsVOnsr3K 10.1111/j.1399-0004.2007.00954.x Plante M, Claveau S, Lepage P, et al (2008) Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clin Genet 73: 236–244.
17. A Raas-Rothschild V Cormier-Daire M Bao 2000 Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC) J Clin Invest 105 673 681 10712439 10.1172/JCI5826 1:CAS:528:DC%2BD3cXhslygtr8%3D Raas-Rothschild A, Cormier-Daire V, Bao M, et al (2000) Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). J Clin Invest 105: 673–681.
18. A Raas-Rothschild R Bargal O Goldman 2004 Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III J Med Genet 41 e52 15060128 10.1136/jmg.2003.015222 1:STN:280:DC%2BD2c7ntFeisg%3D%3D Raas-Rothschild A, Bargal R, Goldman O, et al (2004) Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet 41: e52.
19. RA Saul V Proud HA Taylor JG Leroy J Spranger 2005 Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia Am J Med Genet A 135 328 332 15887289 Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J (2005) Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. Am J Med Genet A 135: 328–332.
20. JW Spranger PW Brill AK Poznanski 2002 Bone dysplasias: an atlas of genetic disorders of the skeletal development Oxford University Press New York 57 79 Spranger JW, Brill PW, Poznanski AK (2002) Bone dysplasias: an atlas of genetic disorders of the skeletal development. Oxford University Press, New York, pp. 57–79.
21. RA Steet R Hullin M Kudo 2005 A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy Am J Med Genet A 132 369 375 15633164 Steet RA, Hullin R, Kudo M, et al (2005) A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A 132: 369–375.
22. S Storch T Braulke 2005 Transport of lysosomal enzymes P Saftig Lysosomes Landes Bioscience/Eurekah.com and Springer Science+Business Media New York 17 26 10.1007/0-387-28957-7_2 Storch S, Braulke T (2005) Transport of lysosomal enzymes. In: Saftig P, ed. Lysosomes. New York: Landes Bioscience/Eurekah.com and Springer Science+Business Media, 17–26.
23. B Tappino S Regis F Corsolini M Filocamo 2008 An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies mucolipidosis II Mol Genet Metab 93 129 133 17964840 10.1016/j.ymgme.2007.09.010 1:CAS:528:DC%2BD1cXit1Sgsro%3D Tappino B, Regis S, Corsolini F, Filocamo M (2008) An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies mucolipidosis II. Mol Genet Metab 93: 129–133.
24. S Tiede M Cantz A Raas-Rothschild 2004 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 24 535 15532026 10.1002/humu.9293 1:CAS:528:DC%2BD2MXhs1OmsQ%3D%3D Tiede S, Cantz M, Raas-Rothschild A, et al (2004) 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 24: 535.
25. S Tiede N Muschol G Reutter M Cantz K Ullrich T Braulke 2005a Missense mutations in N-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype Am J Med Genet 137A 235 240 10.1002/ajmg.a.30868 Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T (2005a) Missense mutations in N-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet 137A: 235–240.
26. S Tiede S Storch T Lübke 2005b Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase Nat Med 11 1109 1112 10.1038/nm1305 1:CAS:528:DC%2BD2MXhtVOiu7%2FN Tiede S, Storch S, Lübke T, et al (2005b) Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase. Nat Med 11: 1109–1112.
27. S Tiede M Cantz J Spranger T Braulke 2006 Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG Hum Mutat 27 830 831 16835905 10.1002/humu.9443 Tiede S, Cantz M, Spranger J, Braulke T (2006) Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. Hum Mutat 27: 830–831.
28. F Umehara W Matsumoto M Kuriyama K Sukegawa S Gasa M Osame 1997 Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family J Neurol Sci 146 167 172 9077513 10.1016/S0022-510X(96)00301-2 1:STN:280:DyaK2s3jt1agug%3D%3D Umehara F, Matsumoto W, Kuriyama M, Sukegawa K, Gasa S, Osame M (1997) Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. J Neurol Sci 146: 167–172.
29. S Unger D Paul M Nino 2005 Mucolipidosis II presenting as severe neonatal hyperparathyroidism Eur J Pediatr 164 236 243 15580357 10.1007/s00431-004-1591-x Unger S, Paul DA, Nino MC, et al (2005) Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr 164: 236–243.