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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.


UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M.

Top Curr Chem. 2015;366:97-137. doi: 10.1007/128_2013_464. Review.


Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA.

Am J Hum Genet. 2001 Jun;68(6):1419-27. Epub 2001 Apr 18.


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.


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.


Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Ferreira H, Seppala R, Pinto R, Huizing M, Martins E, Braga AC, Gomes L, Krasnewich DM, Sa Miranda MC, Gahl WA.

Mol Genet Metab. 1999 Jun;67(2):131-7.


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.


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.


Sialic acid metabolism in sialuria fibroblasts.

Seppala R, Tietze F, Krasnewich D, Weiss P, Ashwell G, Barsh G, Thomas GH, Packman S, Gahl WA.

J Biol Chem. 1991 Apr 25;266(12):7456-61.


Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

No D, Valles-Ayoub Y, Carbajo R, Khokher Z, Sandoval L, Stein B, Tarnopolsky MA, Mozaffar T, Darvish B, Pietruszka M, Darvish D.

Genet Test Mol Biomarkers. 2013 May;17(5):376-82. doi: 10.1089/gtmb.2012.0408. Epub 2013 Feb 25.


Clinical course and biochemistry of sialuria.

Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S.

J Inherit Metab Dis. 2001 Jun;24(3):328-36.


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.


Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.

Yardeni T, Jacobs K, Niethamer TK, Ciccone C, Anikster Y, Kurochkina N, Gahl WA, Huizing M.

Glycoconj J. 2013 Aug;30(6):609-18. doi: 10.1007/s10719-012-9459-1. Epub 2012 Dec 25.


Non-specific accumulation of glycosphingolipids in GNE myopathy.

Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD.

J Inherit Metab Dis. 2014 Mar;37(2):297-308. doi: 10.1007/s10545-013-9655-6. Epub 2013 Oct 18.


Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.

Müller GA, Hansen U, Xu Z, Griswold B, Talan MI, McDonnell NB, Briest W.

FASEB J. 2012 Feb;26(2):668-77. doi: 10.1096/fj.11-182162. Epub 2011 Oct 28.


Loss of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) induces apoptotic processes in pancreatic carcinoma cells.

Kemmner W, Kessel P, Sanchez-Ruderisch H, Möller H, Hinderlich S, Schlag PM, Detjen K.

FASEB J. 2012 Feb;26(2):938-46. doi: 10.1096/fj.11-186700. Epub 2011 Nov 2.


Clinical and biochemical studies in an American child with sialuria.

Krasnewich DM, Tietze F, Krause W, Pretzlaff R, Wenger DA, Diwadkar V, Gahl WA.

Biochem Med Metab Biol. 1993 Feb;49(1):90-6.

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