{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T04:08:19Z","timestamp":1781064499644,"version":"3.54.1"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,12]],"date-time":"2021-09-12T00:00:00Z","timestamp":1631404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2018\u201002821"],"award-info":[{"award-number":["2018\u201002821"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003793","name":"Hj\u00e4rt-Lungfonden","doi-asserted-by":"publisher","award":["20180236"],"award-info":[{"award-number":["20180236"]}],"id":[{"id":"10.13039\/501100003793","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Several neurodegenerative and neuromuscular disorders are characterised by storage of polyglucosan, consisting of proteins and amylopectin\u2010like polysaccharides, which are less branched than in normal glycogen. Such diseases include Lafora disease, branching enzyme deficiency, glycogenin\u20101 deficiency, polyglucosan body myopathy type 1 (PGBM1) due to RBCK1 deficiency and others. The protein composition of polyglucosan bodies is largely unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We combined quantitative mass spectrometry, immunohistochemical and western blot analyses to identify the principal protein components of polyglucosan bodies in PGBM1. Histologically stained tissue sections of skeletal muscle from four patients were used to isolate polyglucosan deposits and control regions by laser microdissection. Prior to mass spectrometry, samples were labelled with tandem mass tags that enable quantitative comparison and multiplexed analysis of dissected samples. To study the distribution and expression of the accumulated proteins, immunohistochemical and western blot analyses were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Accumulated proteins were mainly components of glycogen metabolism and protein quality control pathways. The majority of fibres showed depletion of glycogen and redistribution of key enzymes of glycogen metabolism to the polyglucosan bodies. The polyglucosan bodies also showed accumulation of proteins involved in the ubiquitin\u2010proteasome and autophagocytosis systems and protein chaperones.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The sequestration of key enzymes of glycogen metabolism to the polyglucosan bodies may explain the glycogen depletion in the fibres and muscle function impairment. The accumulation of components of the protein quality control systems and other proteins frequently found in protein aggregate disorders indicates that protein aggregation may be an essential part of the pathobiology of polyglucosan storage.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nan.12761","type":"journal-article","created":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T02:32:04Z","timestamp":1629253924000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5416-552X","authenticated-orcid":false,"given":"Christer","family":"Thomsen","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"APHP, North\u2010East\u2010Ile\u2010de\u2010France Neuromuscular Pathology Reference Center Henri\u2010Mondor University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Jovanovic","sequence":"additional","affiliation":[{"name":"The Mark Holland Metabolic Unit Salford Royal NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Roberts","sequence":"additional","affiliation":[{"name":"Department of Neurology Salford Royal NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ognian","family":"Kalev","sequence":"additional","affiliation":[{"name":"Neuromed Campus Kepler University Hospital (Klinikum)  Linz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Lindberg","sequence":"additional","affiliation":[{"name":"Department of Neurology Sahlgrenska University Hospital  Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5758-7397","authenticated-orcid":false,"given":"Anders","family":"Oldfors","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,12]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.2.315"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-0173(99)00003-X"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz032"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mam.2015.08.006"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9785-5"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24284"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00276-9"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0900661"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0057-0"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328364dbdc"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23963"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni.2457"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm471"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/imr.12307"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12234"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8710-x"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.01.010"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00204-014-1262-2"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.264531"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2006.09.024"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1402926111"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1110\/ps.03149503"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11229"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv280"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1980.tb04806.x"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477-5956-11-11"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.200900628"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa066691"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/prca.201400015"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19010032"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aax3769"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq407"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.11.006"},{"key":"e_1_2_13_35_1","first-page":"1","article-title":"LUBAC and OTULIN regulate autophagy initiation and maturation by mediating the linear ubiquitination and the stabilization of ATG13","author":"Chu Y","year":"2020","journal-title":"Autophagy"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pathmechdis-012419-032618"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2012.52"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-019-0815-2"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12325"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv385"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.12.1739"},{"key":"e_1_2_13_42_1","first-page":"3388","article-title":"A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase","volume":"2017","author":"Maile CA","year":"1861","journal-title":"Biochim Biophys Acta Gen Subj"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-016-0280-0"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4272"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-019-0694-6"}],"container-title":["Neuropathology and Applied Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nan.12761","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nan.12761","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nan.12761","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T19:07:54Z","timestamp":1692817674000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nan.12761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,12]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1111\/nan.12761"],"URL":"https:\/\/doi.org\/10.1111\/nan.12761","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/NAN.12761\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0305-1846","1365-2990"],"issn-type":[{"value":"0305-1846","type":"print"},{"value":"1365-2990","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,12]]},"assertion":[{"value":"2021-02-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e12761"}}