{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T11:44:52Z","timestamp":1771328692705,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease, an autosomal recessive lysosomal storage disorder, is caused by deficiency of lysosomal acid alpha\u2010glucosidase (GAA). On cellular level, there is lysosomal\u2010bound and free accumulation of glycogen and subsequent damage of organelles and organs. The most severe affected tissues are skeletal muscles and heart. The only available treatment to date is an enzyme replacement therapy (ERT) with alglucosidase alfa, a recombinant human GAA (rhGAA) modified with mannose\u20106\u2010phosphate (M6P), which is internalized via M6P\u2010mediated endocytosis. There is an unmet need to improve this type of therapy, especially in regard to skeletal muscle. Using different tissue culture models, we recently provided evidence that a moss\u2010derived nonphosphorylated rhGAA (moss\u2010GAA), carrying a glycosylation with terminal <jats:italic>N<\/jats:italic>\u2010acetylglucosamine residues (GnGn), might have the potential to improve targeting of skeletal muscle. Now, we present a pilot treatment of <jats:italic>Gaa<\/jats:italic><jats:sup>\u2212\/\u2212<\/jats:sup> mice with moss\u2010GAA. We investigated general effects as well as the uptake into different organs following short\u2010term treatment. Our results do confirm that moss\u2010GAA reaches the target disease organs and thus might have the potential to be an alternative or complementary ERT to the existing one.<\/jats:p>","DOI":"10.1002\/jmd2.12203","type":"journal-article","created":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T19:49:07Z","timestamp":1612381747000},"page":"81-89","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Uptake of <scp>moss\u2010derived<\/scp> human recombinant <scp>GAA<\/scp> in <i>Gaa<\/i><sup>\u2212\/\u2212<\/sup> mice"],"prefix":"10.1002","volume":"59","author":[{"given":"Stefan","family":"Hintze","sequence":"first","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institute at the Department of Neurology University Hospital, Ludwig\u2010Maximilians\u2010University Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Dabrowska\u2010Schlepp","sequence":"additional","affiliation":[{"name":"eleva GmbH  Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgit","family":"Berg","sequence":"additional","affiliation":[{"name":"eleva GmbH  Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Graupner","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institute at the Department of Neurology University Hospital, Ludwig\u2010Maximilians\u2010University Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Busch","sequence":"additional","affiliation":[{"name":"eleva GmbH  Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Schaaf","sequence":"additional","affiliation":[{"name":"eleva GmbH  Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institute at the Department of Neurology University Hospital, Ludwig\u2010Maximilians\u2010University Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3359-3837","authenticated-orcid":false,"given":"Peter","family":"Meinke","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institute at the Department of Neurology University Hospital, Ludwig\u2010Maximilians\u2010University Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1984.04050130053022"},{"key":"e_1_2_9_3_1","first-page":"304","article-title":"Over idiopathische hypertrophie van het hart","volume":"76","author":"Pompe JC","year":"1932","journal-title":"Ned Tijdschr Geneeskd"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920111795542606"},{"issue":"3","key":"e_1_2_9_8_1","first-page":"440","article-title":"Identification of the base\u2010pair substitution responsible for a human acid alpha glucosidase allele with lower \"affinity\" for glycogen (GAA 2) and transient gene expression in deficient cells","volume":"47","author":"Martiniuk F","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000048661.95327.BF"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.1.65"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8219-8"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-0655-y"},{"issue":"4","key":"e_1_2_9_13_1","first-page":"723","article-title":"Quantitation of Mr 46000 and Mr 300000 mannose 6\u2010phosphate receptors in human cells and tissues","volume":"23","author":"Wenk J","year":"1991","journal-title":"Biochem Int"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20050364"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)53985-5"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21072642"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.30.19086"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9886-9"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0098336"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.125358"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12203","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12203","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T07:09:51Z","timestamp":1693552191000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1002\/jmd2.12203"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12203","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"2020-12-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}