- GNE genotype explains 20% of phenotypic variability in GNE myopathy
Oksana Pogoryelova, PhD,* Ian J. Wilson, PhD,* Hank Mansbach, MD, Zohar Argov, MD, Ichizo Nishino, PhD, and Hanns Lochmu ̈ller, MD - A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy
Hanns Lochmu ̈ller, MD, Anthony Behin, MD, Yoseph Caraco, MD, Heather Lau, MD, MS, Massimiliano Mirabella, MD, Ivailo Tournev, MD, DSc, Mark Tarnopolsky, PhD, MD, Oksana Pogoryelova, PhD, MD, Catherine Woods, PhD, Alexander Lai, PhD, MD, Jinay Shah, RPh, MS, Tony Koutsoukos, PhD, Alison Skrinar, PhD, Hank Mansbach, MD, Emil Kakkis, PhD, MD, and Tahseen Mozaffar, MD - 237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018
Oksana Pogoryelovaa,low asterisk,’Correspondence information about the author Oksana PogoryelovaEmail the author Oksana PogoryelovaEmail the author Oksana Pogoryelova, J. Andoni Urtizbereab, Zohar Argovc, Ichizo Nishinod, Hanns Lochmüllere,f,g,h on behalf of the show ENMC workshop study group# - Quantitation of cytidine-5′-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation
Fang M, Xu X, Zhang M, Shi Y, Gu G, Liu W, Class B, Ciccone C, Gahl WA, Huizing M, Carrillo N, Wang AQ. Biomed Chromatogr. 2019 Nov 6:e4735. doi: 10.1002/bmc.4735. [Epub ahead of print] - Bayesian model of disease progression in GNE myopathy
Quintana M, Shrader J, Slota C, Joe G, McKew JC, Fitzgerald M, Gahl WA, Berry S, Carrillo N.
Stat Med. 2019 Apr 15;38(8):1459-1474. doi: 10.1002/sim.8050. Epub 2018 Dec 3. - GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges
Carrillo N, Malicdan MC, Huizing M.
Neurotherapeutics. 2018 Oct;15(4):900-914. doi: 10.1007/s13311-018-0671-y. Review. - Quantification of lectin fluorescence in GNE myopathy muscle biopsies
Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.
Muscle Nerve. 2018 Aug;58(2):286-292. doi: 10.1002/mus.26135. Epub 2018 Apr 23. - Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy
Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV.
Mol Genet Genomic Med. 2017 Jun 14;5(4):410-417. doi: 10.1002/mgg3.300. eCollection 2017 Jul.
PMID: - 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. - Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma
Slota C, Bevans M, Yang L, Shrader J, Joe G, Carrillo N.
Disabil Rehabil. 2018 May;40(10):1206-1213. doi: 10.1080/09638288.2017.1283712. Epub 2017 Feb 7. - Atypical presentation of GNE myopathy with asymmetric hand weakness.
de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N.
Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7. - Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M.
Biomark Med. 2014;8(5):641-52. doi: 10.2217/bmm.14.2. - GNE myopathy: current update and future therapy.
Nishino I, Carrillo-Carrasco N, Argov Z.
J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):385-92. doi: 10.1136/jnnp-2013-307051. Epub 2014 Jul 7. Review. - Mutation update for GNE gene variants associated with GNE myopathy
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.
Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Review. - GNE myopathy: new name and new mutation nomenclature.
Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I.
Neuromuscul Disord. 2014 May;24(5):387-9. doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13. No abstract available. - 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. - 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. - 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. - Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNEmyopathy.
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. - 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. - Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.
Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J.
Hum Gene Ther. 2011 Nov;22(11):1331-41. doi: 10.1089/hum.2010.192. Epub 2011 Apr 25. - Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy.
Nemunaitis G, Maples PB, Jay C, Gahl WA, Huizing M, Poling J, Tong AW, Phadke AP, Pappen BO, Bedell C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J.
J Gene Med. 2010 May;12(5):403-12. doi: 10.1002/jgm.1450. - Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ.
Clin Neuropathol. 2010 Mar-Apr;29(2):71-7. - 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. - Hereditary inclusion body myopathy: a decade of progress.
Huizing M, Krasnewich DM.
Biochim Biophys Acta. 2009 Sep;1792(9):881-7. doi: 10.1016/j.bbadis.2009.07.001. Epub 2009 Jul 24. Review. - 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. - Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA.
BMC Neurol. 2007 Jan 29;7:3. - Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M.
Glycobiology. 2005 Nov;15(11):1102-10. Epub 2005 Jun 29. - GNE myopathy: from clinics and genetics to pathology and research strategies
Oksana Pogoryelova , José Andrés González Coraspe , Nikoletta Nikolenko , Hanns Lochmüller
and Andreas Roos2* - Israeli Scientists Discover Gene Responsible For Hereditary Muscle Disease Prevalent Among Jews Of Persian Descent
Researchers from the Weizmann Institute of Science and from Hadassah University Hospital have identified the gene that in its mutated form causes a degenerative muscle disease known as hereditary inclusion body myopathy, or HIBM.
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