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PIPELINE

Publications

Argov Z, Mitrani-Rosenbaum S. The hereditary inclusion body myopathy enigma and its future therapy. Neurotherapeutics 2008; 5(4): 633-7.

Celeste FV, Vilboux T, et al. Mutation update for GNE gene variants associated with GNE myopathy. Hum Mutat 2014; 35(8): 915-26.

Eisenberg I, Avidan N, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001; 29(1): 83-7.

Galeano B, Klootwijk R, et al. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 2007; 117(6): 1585-94.

Hinderlich S, Berger M, et al. Biosynthesis of N-acetylneuraminic acid in cells lacking UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Biol Chem 2001; 382(2): 291-7.

Huizing M, Carrillo-Carrasco N, et al. GNE myopathy: new name and new mutation nomenclature. Neuromuscul Disord 2014; 24(5): 387-9.

Huizing M, Krasnewich DM, Manoli I, Carrillo-Carrasco N. GNE Myopathy. In: Valle D BA, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, editor. OMMBID – The Online Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw-Hill; 2013.

Huizing M, Krasnewich DM. Hereditary inclusion body myopathy: a decade of progress. Biochim Biophys Acta 2009; 1792(9): 881-7.

Malicdan MC, Noguchi S, et al. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 2009; 15(6): 690-5.

Malicdan MC, Noguchi S, et al. Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy. J Biol Chem 2012; 287(4): 2689-705.

Niethamer TK, Yardeni T, et al. Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Mol Genet Metab 2012; 107(4): 748-55.

Nishino I, Carrillo-Carrasco N, et al. GNE myopathy: current update and future therapy. J Neurol Neurosurg Psychiatry 2015; 86(4): 385-92.

Sparks S, Rakocevic G, et al. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol 2007; 7: 3.

Varki A. Sialic acids in human health and disease. Trends Mol Med 2008; 14(8): 351-360.

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