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GNE Myopathy Clinical Studies at NIH


Lectures by NIH Investigators 

Disorders of Sialic Acid Synthesis: Pathway and Prospects for Therapy
Presented February 2016: SBP Rare Disease Day Symposium 2016
Presenter:  Marjan Huizing, Ph.D., NHGRI, NIH.

Advancing ManNAs as a Therapy for GNE Myopathy
Presented February 2015: SBP Rare Disease Day Symposium 2015
Presenter: Nuria Carrillo, M.D., NIH.  

N-acetylmannosamine (ManNAc) or Sialic Acid as Therapy for Disorders of Hyposialylation 
Presented February, 2012: SBP Rare Disease Day Symposium 2012
Presenter: Marjan Huizing, Ph.D., NHGRI, NIH.

Scientific Publications 


Garland, J., J. Stephen, B. Class, A. Gruber, C. Ciccone, A. Poliak, C. P. Hayes, V. Singhal, C. Slota, J. Perreault, R. Gavrilova, J. A. Shrader, P. Chittiboina, G. Joe, J. Heiss, W. A. Gahl, M. Huizing, N. Carrillo and M. C. V. Malicdan. Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Mol Genet Genomic Med, 5(4):410-417. 2017. [PubMed]

Xu, X., A. Q. Wang, L. L. Latham, F. Celeste, C. Ciccone, M. C. Malicdan, B. Goldspiel, P. Terse, J. Cradock, N. Yang, S. Yorke, J. C. McKew, W. A. Gahl, M. Huizing and N. Carrillo. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. Mol Genet Metab,  April 26, 2017.  [PubMed]

Slota C, Bevans M, Yang L, Shrader J, Joe G, Carrillo N. Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease. Disabil Rehabil, Feb. 7:1-8. 2017. [PubMed]


Shi Y, Xu X, Fang M, Zhang M, Li Y, Gillespie B, Yorke S, Yang N, McKew JC, Gahl WA, Huizing M, Carrillo-Carrasco N, Wang AQ. Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma. Journal of Chromatography B, Analytical Technologies in the Biomedical Life Sciences, 000: 105-111. 2015. [PubMed]

Nishino I, Carrillo-Carrasco N, Argov Z. GNE myopathy: current update and future therapy. J Neurol Neurosurg Psychiatry, 86:385-392. 2015. [PubMed]

Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M. UDP-GlcNAc 2-epimerase/ ManNAc kinase (GNE): A master regulator of sialic acid synthesis. Topics in Current Chemistry, 366:97-137. 2015. [PubMed]


Huizing M, Malicdan MC, Krasnewich DM, Manoli I, Carrillo-Carrasco N. GNE Myopathy. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. eds. OMMBID - The Online Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw-Hill; 2014. 

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. Atypical presentation of GNE myopathy with asymmetric hand weakness. Neuromuscular Disorders, 24: 1063-1067. 2014. [PubMed

Celeste F, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Mutation Update for GNE Gene Variants Associated with GNE Myopathy. Human Mutation, 35: 915-926. 2014. [PubMed]

Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M. Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy. Biomarkers in Medicine, 8:641-652. 2014. [PubMed

Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I. GNE myopathy: new name and new mutation nomenclature. Neuromuscular Disorders, 24: 387-389. 2014. [PubMed]

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. Non-specific accumulation of glycosphingolipids in GNE myopathy. Journal of Inherited Metabolic Disease, 37:297-308. 2014. [PubMed]


Yardeni T, Jacobs K, Niethamer TK, Ciccone C, Anikster Y, Kurochkina N, Gahl WA, Huizing M. Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy. Glycoconjugate Journal, 30:609-618. 2013. [PubMed]


Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, Astiz-Martinez A, Jacobs K, Dorward HM, Zerfas PM, Gahl WA, Huizing M. Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Molecular Genetics and Metabolism, 107:748-755. 2012. [PubMed]

Kakani S, Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk RD, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, Ten Hagen KG, Kopp JB, Gahl WA, Huizing M. The Gne M712T mouse as a model for human glomerulopathy. The American Journal of Pathology , 180:1431-1440. 2012. [PubMed


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. Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex. Human Gene Therapy, 22:1331-1341. 2011. [PubMed]

Yardeni T, Choekyi T, Jacobs K, Ciccone C, Patzel K, Anikster Y, Gahl WA, Kurochkina N, Huizing M. Identification, Tissue Distribution and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-epimerase/ManNAc Kinase. Biochemistry, 50:8914-8925. 2011. [PubMed


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. Hereditary Inclusion Body Myopathy: Single Patient Response to GNE Gene Lipoplex Therapy. The Journal of Gene Medicine, 12:403-412. 2010. [PubMed

Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ. Clinical features, lectin staining, and a novel GNE frameshift mutation Hereditary Inclusion Body Myopathy. Clinical Neuropathology, 29:71-77. 2010. [PubMed]

Kurochkina N, Yardeni T, Huizing M. Molecular modeling of the bifunctional enzyme uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase and predictions of structural effects of mutations associated with HIBM and sialuria. Gycobiology, 20:322-337. 2010. [PubMed]


Huizing M, Krasnewich DM. Hereditary Inclusion Body myopathy: A decade of progress. Biochimica et Biophysica Acta, Molecular Basis of Disease, 1792:881-887. 2009. [PubMed


Galeano B, Klootwijk R, Manoli I, Sun MS, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. N-Acetylmannosamine treatment rescues UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase knock-in mice from severe neonatal glomerular hematuria and podocytopathy. Journal of Clinical Investigation, 17:1585-1594. 2007. [PubMed]

Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas M, Gahl W. Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy. BMC Neurology, 7:3. [PubMed


Savelkoul PJM, Manoli I, Sparks S, Ciccone C, Gahl WA, Krasnewich DM, Huizing M. Normal sialylation status of N-linked and O-GalNAc linked glycans in Hereditary Inclusion Body Myopathy.  Molecular Genetics and Metabolism, 88:389-390. 2006. [PubMed]


Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human Hereditary Inclusion Body Myopathy. Glycobiology, 15:1102-1110. 2005. [PubMed]

Gottlieb E, Ciccone C, Darvish D, Naiem S, Dalakas MC, Savelkoul PJ, Krasnewich DM, Gahl WA, Huizing M. Single nucleotide polymorphisms within the dystroglycan gene in hereditary inclusion body myopathy. Molecular Genetics and Metabolism, 86: 244-249. 2005. [PubMed]


Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas M. Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations. Molecular Genetics and Metabolism, 81:196-202. 2004. [PubMed]

Last Updated: July 24, 2017