References
- Yunis EJ , SamahaFJ. Inclusion body myositis.Lab. Invest.25 (3), 240 – 248 (1971).
- Griggs RC , AskanasV, DiMauroSet al. Inclusion body myositis and myopathies. Ann. Neurol. 38 (5), 705 – 713 (1995).
- Askanas V , EngelWK. New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies.Curr. Opin. Rheumatol.7 (6), 486 – 496 (1995).
- Argov Z , YaromR. “Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews.J. Neurol. Sci.64 (1), 33 – 43 (1984).
- Argov Z , Mitrani-RosenbaumS. The hereditary inclusion body myopathy enigma and its future therapy.Neurotherapeutics5 (4), 633 – 637 (2008).
- Huizing M , KrasnewichDM. Hereditary inclusion body myopathy: a decade of progress.Biochim. Biophys. Acta1792 (9), 881 – 887 (2009).
- Scriver's Online Metabolic and Molecular Bases of Inherited Disease . http://ommbid.mhmedical.com/book.aspx+bookID+474
- Eisenberg I , AvidanN, PotikhaTet al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29 (1), 83 – 87 (2001).
- Hinderlich S , StascheR, ZeitlerR, ReutterW. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.J. Biol. Chem.272 (39), 24313 – 24318 (1997).
- Varki A . Diversity in the sialic acids.Glycobiology2 (1), 25 – 40 (1992).
- Keppler OT , HinderlichS, LangnerJ, Schwartz-AlbiezR, ReutterW, PawlitaM. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.Science284 (5418), 1372 – 1376 (1999).
- Varki A . Sialic acids in human health and disease.Trends Mol. Med.14 (8), 351 – 360 (2008).
- Noguchi S , KeiraY, MurayamaKet al. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J. Biol. Chem. 279 (12), 11402 – 11407 (2004).
- Sparks SE , CicconeC, LalorMet al. 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 (11), 1102 – 1110 (2005).
- Schwarzkopf M , KnobelochKP, RohdeEet al. Sialylation is essential for early development in mice. Proc. Natl Acad. Sci. USA 99 (8), 5267 – 5270 (2002).
- Tajima Y , UyamaE, GoSet al. Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. Am. J. Pathol. 166 (4), 1121 – 1130 (2005).
- Huizing M , RakocevicG, SparksSEet al. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol. Genet. Metab.81 (3), 196 – 202 (2004).
- Broccolini A , GidaroT, De CristofaroRet al. Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. J. Neurochem. 105 (3), 971 – 981 (2008).
- Ricci E , BroccoliniA, GidaroTet al. NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. Neurology 66 (5), 755 – 758 (2006).
- Paccalet T , CoulombeZ, TremblayJP. Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.PLoS ONE5 (4), e10055 (2010).
- Galeano B , KlootwijkR, ManoliIet al. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J. Clin. Invest. 117 (6), 1585 – 1594 (2007).
- Malicdan MC , NoguchiS, HayashiYK, NonakaI, NishinoI. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.Nat. Med.15 (6), 690 – 695 (2009).
- Sparks S , RakocevicG, JoeGet al. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol. 7, 3 (2007).
- Nemunaitis G , MaplesPB, JayCet al. Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy. J. Gene Med. 12 (5), 403 – 412 (2010).
- Nemunaitis G , JayCM, MaplesPBet al. Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex. Hum. Gene Ther.22 (11), 1331 – 1341 (2011).
- Broccolini A , GidaroT, TascaGet al. Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. Neurology 75 (3), 265 – 272 (2010).
- Broccolini A , GidaroT, MorosettiRet al. Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis. J. Neurochem. 96 (3), 777 – 789 (2006).
- Valles-Ayoub Y , EsfandiarifardS, SinaiPet al. Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy. Genet. Test. Mol. Biomarkers 16 (5), 313 – 317 (2012).
- Savelkoul PJ , ManoliI, SparksSEet al. Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy. Mol. Genet. Metab. 88 (4), 389 – 390 (2006).
- Wopereis S , GrunewaldS, HuijbenKMet al. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clin. Chem. 53 (2), 180 – 187 (2007).
- Liu Y , XiaB, GleasonTJet al. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Mol. Genet. Metab. 106 (4), 442 – 454 (2012).
- Carlson DM . Structures and immunochemical properties of oligosaccharides isolated from pig submaxillary mucins.J. Biol. Chem.243 (3), 616 – 626 (1968).
- Faid V , ChiratF, SetaN, FoulquierF, MorelleW. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis.Proteomics7 (11), 1800 – 1813 (2007).
- Xia B , ZhangW, LiXet al. Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. Anal. Biochem. 442 (2), 178 – 185 (2013).
- Guillard M , MoravaE, Van DelftFLet al. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin. Chem. 57 (4), 593 – 602 (2011).
- Yoo E , YoonI. Application of tandem mass spectrometry in the structure determination of permethylated sialic acid-containing oligosaccharides.Bull. Korean Chem. Soc.26 (9), 1347 – 1353 (2005).
- Cunningham BA , HemperlyJJ, MurrayBA, PredigerEA, Brackenbury. Neural cell adhesion molecule: structure, immunoglobulin-like domains, cell surface modulation, and alternative RNA splicing.Science236 (4803), 799 – 806 (1987).
- Small SJ , ShullGE, SantoniMJ, AkesonR. Identification of a cDNA clone that contains the complete coding sequence for a 140-kD rat NCAM polypeptide.J. Cell. Biol.105 (5), 2335 – 2345 (1987).
- Sharon N . Lectins: carbohydrate-specific reagents and biological recognition molecules.J. Biol. Chem.282 (5), 2753 – 2764 (2007).
- Iskratsch T , BraunA, PaschingerK, WilsonIB. Specificity analysis of lectins and antibodies using remodeled glycoproteins.Anal. Biochem.386 (2), 133 – 146 (2009).
- Kronis KA , CarverJP. Specificity of isolectins of wheat germ agglutinin for sialyloligosaccharides: a 360-MHz proton nuclear magnetic resonance binding study.Biochemistry21 (13), 3050 – 3057 (1982).
- Shibuya N , GoldsteinIJ, BroekaertWF, Nsimba-LubakiM, PeetersB, PeumansWJ. The elderberry (Sambucus nigra L.) bark lectin recognizes the Neu5Ac(alpha 2–6)Gal/GalNAc sequence.J. Biol. Chem.262 (4), 1596 – 1601 (1987).
- Puri KD , GopalakrishnanB, SuroliaA. Carbohydrate binding specificity of the Tn-antigen binding lectin from Vicia villosa seeds (VVLB4).FEBS Lett312 (2–3), 208 – 212 (1992).
- Niethamer TK , YardeniT, LeoyklangPet al. Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Mol. Genet. Metab. 107 (4), 748 – 755 (2012).
- Harduin-Lepers A , Vallejo-RuizV, Krzewinski-RecchiMA, Samyn-PetitB, JulienS, DelannoyP. The human sialyltransferase family.Biochimie83 (8), 727 – 737 (2001).
- Giacopuzzi E , BrescianiR, SchauerR, MontiE, BorsaniG. New insights on the sialidase protein family revealed by a phylogenetic analysis in metazoa.PLoS ONE7 (8), e44193 (2012).
- Pshezhetsky AV , AshmarinaLI. Desialylation of surface receptors as a new dimension in cell signaling.Biochemistry (Mosc.)78 (7), 736 – 745 (2013).
- Springer GF . Immunoreactive T and Tn epitopes in cancer diagnosis, prognosis, and immunotherapy.J. Mol. Med. (Berl.)75 (8), 594 – 602 (1997).
- Cao Y , KarstenUR, LiebrichW, HaenschW, SpringerGF, SchlagPM. Expression of Thomsen-Friedenreich-related antigens in primary and metastatic colorectal carcinomas. A re-evaluation.Cancer76 (10), 1700 – 1708 (1995).
- Goletz S , CaoY, DanielczykA, RavnP, SchoeberU, KarstenU. Thomsen-Friedenreich antigen: the “hidden” tumor antigen.Adv. Exp. Med. Biol.535, 147 – 162 (2003).
- Imai J , GhazizadehM, NaitoZ, AsanoG. Immunohistochemical expression of T, Tn and sialyl-Tn antigens and clinical outcome in human breast carcinoma.Anticancer Res.21 (2B), 1327 – 1334 (2001).
- Udd B . Distal myopathies-new genetic entities expand diagnostic challenge.Neuromusc. Disord.22 (1), 5 – 12 (2012).
- Muntoni F , TorelliS, WellsDJ, BrownSC. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.Curr. Opin. Neurol.24 (5), 437 – 442 (2011).
- Abes R , TeillaudJ-L. Impact of glycosylation on effector functions of therapeutic IgG.Pharmaceuticals3, 146 – 157 (2010).