Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 99


Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.

Huizing M, Yardeni T, Fuentes F, Malicdan MCV, Leoyklang P, Volkov A, Dekel B, Brede E, Blake J, Powell A, Chatrathi H, Anikster Y, Carrillo N, Gahl WA, Kopp JB.

Kidney Int Rep. 2019 Jun 25;4(10):1454-1462. doi: 10.1016/j.ekir.2019.06.012. eCollection 2019 Oct.


Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, Astiz-Martinez A, Jacobs K, Dorward HM, Zerfas PM, Gahl WA, Huizing M.

Mol Genet Metab. 2012 Dec;107(4):748-55. doi: 10.1016/j.ymgme.2012.10.011. Epub 2012 Oct 18.


Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N.

Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26.


The Gne M712T mouse as a model for human glomerulopathy.

Kakani S, Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk ED, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, Ten Hagen KG, Kopp JB, Gahl WA, Huizing M.

Am J Pathol. 2012 Apr;180(4):1431-40. doi: 10.1016/j.ajpath.2011.12.023. Epub 2012 Feb 7.


Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M.

J Clin Invest. 2007 Jun;117(6):1585-94.


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.


[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].

Noguchi S, Malicdan MC, Nishino I.

Brain Nerve. 2010 Jun;62(6):601-7. Review. Japanese.


Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice.

Ito M, Sugihara K, Asaka T, Toyama T, Yoshihara T, Furuichi K, Wada T, Asano M.

PLoS One. 2012;7(1):e29873. doi: 10.1371/journal.pone.0029873. Epub 2012 Jan 13.


Engineering sialic acid synthetic ability into insect cells: identifying metabolic bottlenecks and devising strategies to overcome them.

Viswanathan K, Lawrence S, Hinderlich S, Yarema KJ, Lee YC, Betenbaugh MJ.

Biochemistry. 2003 Dec 30;42(51):15215-25.


Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: II. Investigation of the ManNAc kinase functionality.

Benie AJ, Blume A, Schmidt RR, Reutter W, Hinderlich S, Peters T.

J Biol Chem. 2004 Dec 31;279(53):55722-7. Epub 2004 Oct 21.


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.


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.


Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.

Martinez J, Nguyen LD, Hinderlich S, Zimmer R, Tauberger E, Reutter W, Saenger W, Fan H, Moniot S.

J Biol Chem. 2012 Apr 20;287(17):13656-65. doi: 10.1074/jbc.M111.318170. Epub 2012 Feb 16.


[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)].

Nishino I, Noguchi S.

Rinsho Shinkeigaku. 2012;52(11):1210-2. Japanese.


Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I.

J Biol Chem. 2004 Mar 19;279(12):11402-7. Epub 2004 Jan 5.


A novel approach to decrease sialic acid expression in cells by a C-3-modified N-acetylmannosamine.

Wratil PR, Rigol S, Solecka B, Kohla G, Kannicht C, Reutter W, Giannis A, Nguyen LD.

J Biol Chem. 2014 Nov 14;289(46):32056-63. doi: 10.1074/jbc.M114.608398. Epub 2014 Oct 2.


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.


Purification and characterization of GlcNAc-6-P 2-epimerase from Escherichia coli K92.

Ferrero MA, Martínez-Blanco H, Lopez-Velasco FF, Ezquerro-Sáenz C, Navasa N, Lozano S, Rodríguez-Aparicio LB.

Acta Biochim Pol. 2007;54(2):387-99. Epub 2007 Jun 14.

Supplemental Content

Support Center