{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T07:18:23Z","timestamp":1787728703777,"version":"build-2784847793"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,12,1]]},"DOI":"10.1093\/hmg\/ddn261","type":"journal-article","created":{"date-parts":[[2008,8,24]],"date-time":"2008-08-24T00:26:11Z","timestamp":1219537571000},"page":"3663-3674","source":"Crossref","is-referenced-by-count":48,"title":["Mitochondrial processes are impaired in hereditary inclusion body myopathy"],"prefix":"10.1093","volume":"17","author":[{"given":"Iris","family":"Eisenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noa","family":"Novershtern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohar","family":"Itzhaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Becker-Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menachem","family":"Sadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.G.M.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nir","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner J.H.","family":"Koopman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Mitrani-Rosenbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2008,8,23]]},"reference":[{"key":"key\n\t\t\t\t20170522134730_DDN261C1","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1097\/00002281-199811000-00006","article-title":"Genetics of inclusion body myopathies","volume":"10","author":"Argov","year":"1998","journal-title":"Curr. Opin. Rheumatol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C2","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0022-510X(84)90053-4","article-title":"\u2018Rimmed vacuole myopathy\u2019 sparing the quadriceps. A unique disorder in Iranian Jews","volume":"64","author":"Argov","year":"1984","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170522134730_DDN261C3","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s11910-005-0025-0","article-title":"Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy","volume":"5","author":"Nonaka","year":"2005","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"key\n\t\t\t\t20170522134730_DDN261C4","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/0022-510X(81)90067-8","article-title":"Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation","volume":"51","author":"Nonaka","year":"1981","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170522134730_DDN261C5","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng718","article-title":"The UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy","volume":"29","author":"Eisenberg","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522134730_DDN261C6","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s100380200004","article-title":"Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase\/N-acetylmannosamine kinase gene (GNE)","volume":"47","author":"Kayashima","year":"2002","journal-title":"J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522134730_DDN261C7","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1212\/01.WNL.0000041631.28557.C6","article-title":"Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy","volume":"59","author":"Nishino","year":"2002","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522134730_DDN261C8","doi-asserted-by":"crossref","first-page":"1372","DOI":"10.1126\/science.284.5418.1372","article-title":"UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation","volume":"284","author":"Keppler","year":"1999","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522134730_DDN261C9","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/j.ceb.2003.08.002","article-title":"Glycan-dependent leukocyte adhesion and recruitment in inflammation","volume":"15","author":"Lowe","year":"2003","journal-title":"Curr. Opin. Cell. Biol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C10","doi-asserted-by":"crossref","first-page":"1R","DOI":"10.1093\/glycob\/cwj008","article-title":"Siglecs\u2014the major subfamily of I-type lectins","volume":"16","author":"Varki","year":"2006","journal-title":"Glycobiology"},{"key":"key\n\t\t\t\t20170522134730_DDN261C11","doi-asserted-by":"crossref","first-page":"28771","DOI":"10.1074\/jbc.274.40.28771","article-title":"Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments","volume":"274","author":"Effertz","year":"1999","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134730_DDN261C12","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.nmd.2004.10.001","article-title":"Alpha-dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy","volume":"15","author":"Broccolini","year":"2005","journal-title":"Neuromuscul. Disord."},{"key":"key\n\t\t\t\t20170522134730_DDN261C13","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.febslet.2004.04.013","article-title":"The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy","volume":"566","author":"Hinderlich","year":"2004","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522134730_DDN261C14","doi-asserted-by":"crossref","first-page":"11402","DOI":"10.1074\/jbc.M313171200","article-title":"Reduction of UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles","volume":"279","author":"Noguchi","year":"2004","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134730_DDN261C15","doi-asserted-by":"crossref","first-page":"2968","DOI":"10.1021\/bi0522504","article-title":"Influence of UDP-GlcNAc 2-epimerase\/ManNAc kinase mutant proteins on hereditary inclusion body myopathy","volume":"45","author":"Penner","year":"2006","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20170522134730_DDN261C16","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.bbrc.2004.12.157","article-title":"No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation","volume":"328","author":"Salama","year":"2005","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170522134730_DDN261C17","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1093\/glycob\/cwi100","article-title":"Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy","volume":"15","author":"Sparks","year":"2005","journal-title":"Glycobiology"},{"key":"key\n\t\t\t\t20170522134730_DDN261C18","doi-asserted-by":"crossref","first-page":"2669","DOI":"10.1093\/hmg\/ddm220","article-title":"A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy","volume":"16","author":"Malicdan","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522134730_DDN261C19","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1212\/WNL.59.8.1170","article-title":"Molecular profiles of inflammatory myopathies","volume":"59","author":"Greenberg","year":"2002","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522134730_DDN261C20","doi-asserted-by":"crossref","first-page":"15000","DOI":"10.1073\/pnas.192571199","article-title":"Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle","volume":"99","author":"Haslett","year":"2002","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522134730_DDN261C21","doi-asserted-by":"crossref","first-page":"50466","DOI":"10.1074\/jbc.M307247200","article-title":"Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing","volume":"278","author":"Lennon","year":"2003","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134730_DDN261C22","doi-asserted-by":"crossref","first-page":"4666","DOI":"10.1073\/pnas.0330960100","article-title":"Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle","volume":"100","author":"Sanoudou","year":"2003","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522134730_DDN261C23","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1002\/mus.10085","article-title":"CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery\u2013Dreifuss muscular dystrophy","volume":"25","author":"Tsukahara","year":"2002","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522134730_DDN261C24","doi-asserted-by":"crossref","first-page":"2895","DOI":"10.1093\/hmg\/ddg327","article-title":"Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation","volume":"12","author":"Winokur","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522134730_DDN261C25","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology. The Gene Ontology Consortium","volume":"25","author":"Ashburner","year":"2000","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522134730_DDN261C26","doi-asserted-by":"crossref","first-page":"P3","DOI":"10.1186\/gb-2003-4-5-p3","article-title":"DAVID: Database for Annotation, Visualization, and Integrated Discovery","volume":"4","author":"Dennis","year":"2003","journal-title":"Genome Biol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C27","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/nature03985","article-title":"A network-based analysis of systemic inflammation in humans","volume":"437","author":"Calvano","year":"2005","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522134730_DDN261C28","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1074\/jbc.M111305200","article-title":"The oxidized lipid and lipoxygenase product 12(S)-hydroxyeicosatetraenoic acid induces hypertrophy and fibronectin transcription in vascular smooth muscle cells via p38 MAPK and cAMP response element-binding protein activation. Mediation of angiotensin II effects","volume":"277","author":"Reddy","year":"2002","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134730_DDN261C29","doi-asserted-by":"crossref","first-page":"10140","DOI":"10.1073\/pnas.95.17.10140","article-title":"Enhanced Galphaq signaling: a common pathway mediates cardiac hypertrophy and apoptotic heart failure","volume":"95","author":"Adams","year":"1998","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522134730_DDN261C30","doi-asserted-by":"crossref","first-page":"10622","DOI":"10.1073\/pnas.0501198102","article-title":"Cardiomyocyte hypertrophy and degradation of connexin43 through spatially restricted autocrine\/paracrine heparin-binding EGF","volume":"102","author":"Yoshioka","year":"2005","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522134730_DDN261C31","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1152\/physrev.2001.81.2.807","article-title":"Mammalian mitogen-activated protein kinase signal transduction pathways activated by stress and inflammation","volume":"81","author":"Kyriakis","year":"2001","journal-title":"Physiol. Rev."},{"key":"key\n\t\t\t\t20170522134730_DDN261C32","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.cardiores.2007.03.027","article-title":"S100A4 is upregulated in injured myocardium and promotes growth and survival of cardiac myocytes","volume":"75","author":"Schneider","year":"2007","journal-title":"Cardiovasc. Res."},{"key":"key\n\t\t\t\t20170522134730_DDN261C33","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1089\/ars.2007.2000","article-title":"Ultrastructure of the mitochondrion and its bearing on function and bioenergetics","volume":"10","author":"Benard","year":"2008","journal-title":"Antioxid. Redox Signal."},{"key":"key\n\t\t\t\t20170522134730_DDN261C34","doi-asserted-by":"crossref","first-page":"C22","DOI":"10.1152\/ajpcell.00194.2006","article-title":"Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?","volume":"293","author":"Koopman","year":"2007","journal-title":"Am. J. Physiol. Cell. Physiol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C35","doi-asserted-by":"crossref","first-page":"C1440","DOI":"10.1152\/ajpcell.00607.2004","article-title":"Inhibition of complex I of the electron transport chain causes oxygen radical-mediated mitochondrial outgrowth","volume":"288","author":"Koopman","year":"2005","journal-title":"Am. J. Physiol. Cell. Physiol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/cyto.a.20198","article-title":"Simultaneous, quantitative measurement and automated analysis of mitochondrial morphology, mass, potential and motility in living human skin fibroblasts","volume":"69A","author":"Koopman","year":"2006","journal-title":"Cytometry A"},{"key":"key\n\t\t\t\t20170522134730_DDN261C37","doi-asserted-by":"crossref","first-page":"C881","DOI":"10.1152\/ajpcell.00104.2005","article-title":"Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency","volume":"289","author":"Koopman","year":"2005","journal-title":"Am. J. Physiol. Cell. Physiol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C38","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1038\/sj.cdd.4402208","article-title":"Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events","volume":"14","author":"Amsili","year":"2007","journal-title":"Cell Death Differ."},{"key":"key\n\t\t\t\t20170522134730_DDN261C39","doi-asserted-by":"crossref","first-page":"S49","DOI":"10.1212\/01.wnl.0000192127.63013.8d","article-title":"Mitochondrial abnormalities in inclusion-body myositis","volume":"66","author":"Oldfors","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522134730_DDN261C40","first-page":"274","article-title":"Hereditary inclusion body myopathies","volume-title":"Structural and Molecular Basis of Skeletal Muscle Diseases","author":"Argov","year":"2002"},{"key":"key\n\t\t\t\t20170522134730_DDN261C41","doi-asserted-by":"crossref","first-page":"4107","DOI":"10.1093\/emboj\/20.15.4107","article-title":"Propagation of the apoptotic signal by mitochondrial waves","volume":"20","author":"Pacher","year":"2001","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170522134730_DDN261C42","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.molcel.2004.09.026","article-title":"Drp-1-dependent division of the mitochondrial network blocks intraorganellar Ca2+ waves and protects against Ca2+-mediated apoptosis","volume":"16","author":"Szabadkai","year":"2004","journal-title":"Mol. Cell."},{"key":"key\n\t\t\t\t20170522134730_DDN261C43","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S1388-1981(02)00339-6","article-title":"GD3 ganglioside and apoptosis","volume":"1585","author":"Malisan","year":"2002","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170522134730_DDN261C44","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1023\/B:GLYC.0000043294.62504.2c","article-title":"Glycosphingolipids and mitochondria: role in apoptosis and disease","volume":"20","author":"Morales","year":"2004","journal-title":"Glycoconj. J."},{"key":"key\n\t\t\t\t20170522134730_DDN261C45","doi-asserted-by":"crossref","first-page":"27016","DOI":"10.1074\/jbc.M604903200","article-title":"Roles for UDP-GlcNAc 2-epimerase\/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1\/2 phosphorylation","volume":"281","author":"Wang","year":"2006","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134730_DDN261C46","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1096\/fj.99-1028com","article-title":"GD3 ganglioside directly targets mitochondria in a bcl-2-controlled fashion","volume":"14","author":"Rippo","year":"2000","journal-title":"FASEB J."},{"key":"key\n\t\t\t\t20170522134730_DDN261C47","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1212\/01.wnl.0000267426.97138.fd","article-title":"GNE protein expression and subcellular distribution are unaltered in HIBM","volume":"69","author":"Krause","year":"2007","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522134730_DDN261C48","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/35072063","article-title":"The genetics and pathology of oxidative phosphorylation","volume":"2","author":"Smeitink","year":"2001","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522134730_DDN261C49","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/bioinformatics\/19.2.185","article-title":"A comparison of normalization methods for high density oligonucleotide array data based on variance and bias","volume":"19","author":"Bolstad","year":"2003","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170522134730_DDN261C50","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1165\/ajrcmb.27.2.f247","article-title":"Practical approaches to analyzing results of microarray experiments","volume":"27","author":"Kaminski","year":"2002","journal-title":"Am. J. Respir. Cell. Mol. Biol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C51","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1089\/106652700750050943","article-title":"Tissue classification with gene expression profiles","volume":"7","author":"Ben-Dor","year":"2000","journal-title":"J. Comput. Biol."},{"key":"key\n\t\t\t\t20170522134730_DDN261C52","volume-title":"Overabundance Analysis and Class Discovery in Gene Expression Data 2002\u20132005","author":"Ben-Dor","year":"2002"},{"key":"key\n\t\t\t\t20170522134730_DDN261C53","doi-asserted-by":"crossref","first-page":"14863","DOI":"10.1073\/pnas.95.25.14863","article-title":"Cluster analysis and display of genome-wide expression patterns","volume":"95","author":"Eisen","year":"1998","journal-title":"Proc. Natl Acad. Sci. USA"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/17\/23\/3663\/13927428\/ddn261.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T15:16:07Z","timestamp":1557760567000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddn261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,23]]},"references-count":53,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2008,8,23]]},"published-print":{"date-parts":[[2008,12,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddn261","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2008,8,23]]}}}