{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T15:33:42Z","timestamp":1783784022862,"version":"3.55.0"},"reference-count":29,"publisher":"The Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,8,1]]},"DOI":"10.1210\/jc.2017-00399","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T22:23:21Z","timestamp":1493331801000},"page":"2690-2700","source":"Crossref","is-referenced-by-count":20,"title":["Glycogen Synthesis in Glycogenin 1\u2013Deficient Patients: A Role for Glycogenin 2 in Muscle"],"prefix":"10.1210","volume":"102","author":[{"given":"Thomas O","family":"Krag","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Ruiz-Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2017,4,27]]},"reference":[{"issue":"13","key":"key\n\t\t\t\t20170807140106_B1","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1056\/NEJMoa0900661","article-title":"Glycogenin-1 deficiency and inactivated priming of glycogen synthesis","volume":"362","year":"2010","journal-title":"N Engl J Med"},{"issue":"6","key":"key\n\t\t\t\t20170807140106_B2","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/ana.24284","article-title":"A new muscle glycogen storage disease associated with glycogenin-1 deficiency","volume":"76","year":"2014","journal-title":"Ann Neurol"},{"issue":"10","key":"key\n\t\t\t\t20170807140106_B3","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.nmd.2015.07.007","article-title":"Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation","volume":"25","year":"2015","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"key\n\t\t\t\t20170807140106_B4","doi-asserted-by":"crossref","first-page":"e21","DOI":"10.1212\/NXG.0000000000000021","article-title":"GYG1 gene mutations in a family with polyglucosan body myopathy","volume":"1","year":"2015","journal-title":"Neurol Genet"},{"issue":"3","key":"key\n\t\t\t\t20170807140106_B5","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1111\/nan.12171","article-title":"Familial polyglucosan body myopathy with unusual phenotype","volume":"41","year":"2015","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"1","key":"key\n\t\t\t\t20170807140106_B6","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.nmd.2015.10.012","article-title":"Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1","volume":"26","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"key\n\t\t\t\t20170807140106_B7","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1136\/jnnp-2015-310553","article-title":"Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation","volume":"87","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"10","key":"key\n\t\t\t\t20170807140106_B8","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1007\/s00415-016-8268-z","article-title":"Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods","volume":"263","year":"2016","journal-title":"J Neurol"},{"issue":"1","key":"key\n\t\t\t\t20170807140106_B9","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10545-016-9978-1","article-title":"Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature","volume":"40","year":"2017","journal-title":"J Inherit Metab Dis"},{"issue":"25","key":"key\n\t\t\t\t20170807140106_B10","doi-asserted-by":"crossref","first-page":"23892","DOI":"10.1074\/jbc.M502344200","article-title":"Requirements for catalysis in mammalian glycogenin","volume":"280","year":"2005","journal-title":"J Biol Chem"},{"issue":"1","key":"key\n\t\t\t\t20170807140106_B11","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1006\/abbi.1995.1295","article-title":"Mechanism of glycogenin self-glucosylation","volume":"319","year":"1995","journal-title":"Arch Biochem Biophys"},{"issue":"29","key":"key\n\t\t\t\t20170807140106_B12","doi-asserted-by":"crossref","first-page":"21717","DOI":"10.1016\/S0021-9258(20)80601-2","article-title":"Initiation of glycogen synthesis. Control of glycogenin by glycogen phosphorylase","volume":"268","year":"1993","journal-title":"J Biol Chem"},{"issue":"20","key":"key\n\t\t\t\t20170807140106_B13","doi-asserted-by":"crossref","first-page":"14687","DOI":"10.1016\/S0021-9258(18)82388-2","article-title":"Characterization of rabbit skeletal muscle glycogenin. Tyrosine 194 is essential for function","volume":"268","year":"1993","journal-title":"J Biol Chem"},{"issue":"52","key":"key\n\t\t\t\t20170807140106_B14","doi-asserted-by":"crossref","first-page":"34850","DOI":"10.1074\/jbc.273.52.34850","article-title":"Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism","volume":"273","year":"1998","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170807140106_B15"},{"issue":"5","key":"key\n\t\t\t\t20170807140106_B16","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1093\/jnen\/nlw018","article-title":"Differential muscle involvement in mice and humans affected by McArdle disease","volume":"75","year":"2016","journal-title":"J Neuropathol Exp Neurol"},{"issue":"5","key":"key\n\t\t\t\t20170807140106_B17","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1152\/japplphysiol.00585.2001","article-title":"Quantification of subcellular glycogen in resting human muscle: granule size, number, and location","volume":"93","year":"2002","journal-title":"J Appl Physiol"},{"issue":"3","key":"key\n\t\t\t\t20170807140106_B18","doi-asserted-by":"crossref","first-page":"e0150540","DOI":"10.1371\/journal.pone.0150540","article-title":"Molecular structure of human-liver glycogen","volume":"11","year":"2016","journal-title":"PLoS One"},{"issue":"3","key":"key\n\t\t\t\t20170807140106_B19","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1042\/BJ20111416","article-title":"Glycogen and its metabolism: some new developments and old themes","volume":"441","year":"2012","journal-title":"Biochem J"},{"issue":"6","key":"key\n\t\t\t\t20170807140106_B20","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1021\/acs.biomac.5b00459","article-title":"The mechanism for stopping chain and total-molecule growth in complex branched polymers, exemplified by glycogen","volume":"16","year":"2015","journal-title":"Biomacromolecules"},{"issue":"12","key":"key\n\t\t\t\t20170807140106_B21","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1212\/WNL.56.12.1739","article-title":"Surprises of genetic engineering: a possible model of polyglucosan body disease","volume":"56","year":"2001","journal-title":"Neurology"},{"issue":"44","key":"key\n\t\t\t\t20170807140106_B22","doi-asserted-by":"crossref","first-page":"27589","DOI":"10.1074\/jbc.272.44.27589","article-title":"Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis","volume":"272","year":"1997","journal-title":"J Biol Chem"},{"issue":"2","key":"key\n\t\t\t\t20170807140106_B23","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.bbapap.2013.11.002","article-title":"LC-MS\/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences","volume":"1844","year":"2014","journal-title":"Biochim Biophys Acta"},{"issue":"15","key":"key\n\t\t\t\t20170807140106_B24","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1056\/NEJMoa066691","article-title":"Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0","volume":"357","year":"2007","journal-title":"N Engl J Med"},{"issue":"1","key":"key\n\t\t\t\t20170807140106_B25","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/0014-5793(90)80959-M","article-title":"The nature of the primer for glycogen synthesis in muscle","volume":"268","year":"1990","journal-title":"FEBS Lett"},{"issue":"5","key":"key\n\t\t\t\t20170807140106_B26","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1016\/j.cmet.2013.04.006","article-title":"Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease","volume":"17","year":"2013","journal-title":"Cell Metab"},{"key":"key\n\t\t\t\t20170807140106_B27","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.mam.2015.08.006","article-title":"Polyglucosan storage myopathies","volume":"46","year":"2015","journal-title":"Mol Aspects Med"},{"issue":"3","key":"key\n\t\t\t\t20170807140106_B28","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1097\/MCO.0b013e32833862df","article-title":"Signaling pathways perturbing muscle mass","volume":"13","year":"2010","journal-title":"Curr Opin Clin Nutr Metab Care"},{"issue":"12","key":"key\n\t\t\t\t20170807140106_B29","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/labinvest.3700484","article-title":"Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease","volume":"86","year":"2006","journal-title":"Lab Invest"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/102\/8\/2690\/19452742\/jc.2017-00399.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T00:37:13Z","timestamp":1658968633000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/jcem\/article\/102\/8\/2690\/3764368\/Glycogen-Synthesis-in-Glycogenin-1Deficient"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,27]]},"references-count":29,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2017,4,27]]},"published-print":{"date-parts":[[2017,8,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2017-00399","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,27]]}}}