The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy

FEBS Letters

Volumn 566, Issue 1-3, 2004, Pages 105-109

  Hinderlich, Stephan ^a   Salama, Ilan ^b   Eisenberg, Iris ^b   Potikha, Tamara ^b   Mantey, Lars R ^a   Yarema, Kevin J ^d   Horstkorte, Rüdiger ^a   Argov, Zohar ^b   Sadeh, Menachem ^c   Reutter, Werner ^a   Mitrani Rosenbaum, Stella ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c WOLFSON MEDICAL CENTER   (Israel)

^d Johns Hopkins University   (United States)

Author keywords

GNE; GNE, UDP N acetylglucosamine 2 epimerase N acetylmannosamine kinase; Hereditary inclusion body myopathy; HIBM, hereditary inclusion body myopathy; ManNAc kinase, N acetylmannosamine kinase; UDP GlcNAc 2 epimerase, UDP N acetylglucosamine 2 epimerase

Indexed keywords

EPIMERASE; LECTIN; METHIONINE; N ACETYLMANNOSAMINE KINASE; PHOSPHOTRANSFERASE; RECOMBINANT ENZYME; SIALIC ACID; THREONINE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ARTICLE; COLORIMETRY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE MUTATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; HUMAN CELL; INCLUSION BODY MYOSITIS; LYMPHOBLASTOID CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; SIALYLATION;

AMINO ACID SUBSTITUTION; ANIMALS; B-LYMPHOCYTES; CARBOHYDRATE EPIMERASES; CELL LINE; CELL MEMBRANE; CYTOSOL; ESCHERICHIA COLI PROTEINS; FLOW CYTOMETRY; HOMOZYGOTE; HUMANS; MYOSITIS, INCLUSION BODY; N-ACETYLNEURAMINIC ACID; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RECOMBINANT PROTEINS; SPODOPTERA; TUMOR CELLS, CULTURED;

EID: 2442555152     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2004.04.013     Document Type: Article

References (20)

1. Argov Z., Yarom R. J. Neurol. Sci. 64:1984;33-43
2. Argov Z., Eisenberg I., Mitrani-Rosenbaum S. Curr. Opin. Rheumatol. 10:1998;543-547
3. Eisenberg L., Avidan N., Potikha T., Hochner H., Chen M., Olender T., Barash M., Shemesh M., Sadeh M., Grabov-Nardini G., Shmilevich L., Friedmann A., Karpati G., Bradley W.G., Baumbach L., Lancet D., Asher E.B., Beckmann J.S., Argov Z., Mitrani-Rosenbaum S. Nat. Genet. 29:2001;83-87
4. Eisenberg I., Grabov-Nardini G., Hochner H., Korner M., Sadeh M., Bertorini T., Bushby K., Castellan C., Felice K., Mendell J., Merlini L., Shilling C., Wirguin I., Argov Z., Mitrani-Rosenbaum S. Hum. Mutat. 21:2002;99-105
5. Nishino I., Noguchi S., Murayama K., Driss A., Sugie K., Oya Y., Nagata T., Chida K., Takahashi T., Takusa Y., Ohi T., Nishimiya J., Sunohara N., Ciafaloni E., Kawai M., Aoki M., Nonaka I. Neurology. 59:2002;1689-1693
6. Keppler O.T., Hinderlich S., Langner J., Schwartz-Albiez R., Reutter W., Pawlita M. Science. 284:1999;1372-1376
7. Reuter G., Gabius H.J. Biol. Chem. Hoppe-Seyler. 377:1996;325-342
8. Hynes R.O., Lander A.D. Cell. 68:1992;303-322
9. Edelman G.M., Crossin K.L. Ann. Rev. Biochem. 60:1991;155-190
10. Hinderlich S., Stäsche R., Zeitler R., Reutter W. J. Biol. Chem. 272:1997;24313-24318
11. Effertz K., Hinderlich S., Reutter W. J. Biol. Chem. 274:1999;28771-28778
12. Reutter W., Stäsche R., Stehling P., Baum O. Gabius H.-J., Gabius G. Glycosciences. Status and Perspectives. 1997;245-259 Chapman and Hall, Weinheim
13. Schwarzkopf M., Knobeloch K.-P., Rohde E., Hinderlich S., Wiechens N., Lucka L., Horak I., Reutter W., Horstkorte R. Proc. Natl. Acad. Sci. USA. 99:2002;5267-5270
14. Reissig J.L., Strominger J.L., Leloir L. J. Biol. Chem. 217:1955;959-966
15. Jourdian G.W., Dean L., Roseman S. J. Biol. Chem. 246:1971;430-435
16. Hinderlich S., Berger M., Keppler O.T., Pawlita M., Reutter W. Biol. Chem. 382:2001;291-297
17. Horstkorte R., Nöhring S., Danker K., Effertz K., Reutter W., Lucka L. FEBS Lett. 470:2000;315-318
18. Oetke C., Hinderlich S., Brossmer R., Reutter W., Pawlita M., Keppler O.T. Eur. J. Biochem. 268:2000;4553-4561
19. Babal P., Pindak F.F., Wells D.J., Gardner W.A. Jr. Biochem. J. 299:1994;341-346
20. Noguchi S., Keira Y., Murayama K., Ogawa M., Fujita M., Kawahara G., Oya Y., Imazawa M., Goto Y., Hayashi Y.K., Nonaka I., Nishino I. J. Biol. Chem. 279:2004;11402-11407