Warning: The NCBI web site requires JavaScript to function. more...
Generate a file for use with external citation management software.
Novel biochemical abnormalities and genotype in Farber disease.
Muranjan M, Agarwal S, Lahiri K, Bashyam M.
Indian Pediatr. 2012 Apr;49(4):320-2.
Related citations
Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.
Yardeni T, Choekyi T, Jacobs K, Ciccone C, Patzel K, Anikster Y, Gahl WA, Kurochkina N, Huizing M.
Biochemistry. 2011 Oct 18;50(41):8914-25. doi: 10.1021/bi201050u. Epub 2011 Sep 19.
Enhanced sialylation of recombinant human erythropoietin in Chinese hamster ovary cells by combinatorial engineering of selected genes.
Son YD, Jeong YT, Park SY, Kim JH.
Glycobiology. 2011 Aug;21(8):1019-28. doi: 10.1093/glycob/cwr034. Epub 2011 Mar 24.
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
Kurochkina N, Yardeni T, Huizing M.
Glycobiology. 2010 Mar;20(3):322-37. doi: 10.1093/glycob/cwp176. Epub 2009 Nov 16.
Free sialic acid storage disease without sialuria.
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R.
Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624.
Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.
Reinke SO, Lehmer G, Hinderlich S, Reutter W.
Biol Chem. 2009 Jul;390(7):591-9. doi: 10.1515/BC.2009.073. Review.
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
Klootwijk RD, Savelkoul PJ, Ciccone C, Manoli I, Caplen NJ, Krasnewich DM, Gahl WA, Huizing M.
FASEB J. 2008 Nov;22(11):3846-52. doi: 10.1096/fj.08-110890. Epub 2008 Jul 24.
Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells.
Bork K, Reutter W, Weidemann W, Horstkorte R.
FEBS Lett. 2007 Sep 4;581(22):4195-8. Epub 2007 Aug 3.
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.
Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA.
Biochim Biophys Acta. 2006 Jun;1762(6):598-607.
The inborn errors of sialic acid metabolism and their laboratory investigation.
Gopaul KP, Crook MA.
Clin Lab. 2006;52(3-4):155-69. Review.
The intracellular concentration of sialic acid regulates the polysialylation of the neural cell adhesion molecule.
Bork K, Reutter W, Gerardy-Schahn R, Horstkorte R.
FEBS Lett. 2005 Sep 12;579(22):5079-83.
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR.
J Assoc Physicians India. 2005 Jun;53:521-6.
Engineering intracellular CMP-sialic acid metabolism into insect cells and methods to enhance its generation.
Viswanathan K, Narang S, Hinderlich S, Lee YC, Betenbaugh MJ.
Biochemistry. 2005 May 24;44(20):7526-34.
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
Hong Y, Stanley P.
J Biol Chem. 2003 Dec 26;278(52):53045-54. Epub 2003 Oct 15.
Filters: Manage Filters
Your browsing activity is empty.
Activity recording is turned off.
Turn recording back on