{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T15:37:11Z","timestamp":1790177831730,"version":"4.1.0"},"reference-count":261,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2020,12,17]],"date-time":"2020-12-17T00:00:00Z","timestamp":1608163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fondo de Investigaciones Sanitarias and cofunded by \u2018Fondos FEDER","award":["PI19\/01313"],"award-info":[{"award-number":["PI19\/01313"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). Several different GSD animal models have been found to naturally present spontaneous mutations and others have been developed and characterized in order to further understand the physiopathology of these diseases and as a useful tool to evaluate potential therapeutic strategies. In the present work we have reviewed a total of 42 different animal models of GSD, including 26 genetically modified mouse models, 15 naturally occurring models (encompassing quails, cats, dogs, sheep, cattle and horses), and one genetically modified zebrafish model. To our knowledge, this is the most complete list of GSD animal models ever reviewed. Importantly, when all these animal models are analyzed together, we can observe some common traits, as well as model specific differences, that would be overlooked if each model was only studied in the context of a given GSD.<\/jats:p>","DOI":"10.3390\/ijms21249621","type":"journal-article","created":{"date-parts":[[2020,12,17]],"date-time":"2020-12-17T10:42:47Z","timestamp":1608201767000},"page":"9621","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1650-2908","authenticated-orcid":false,"given":"Aitana","family":"Almod\u00f3var-Pay\u00e1","sequence":"first","affiliation":[{"name":"Mitochondrial and Neuromuscular Disorders Unit, Vall d\u2019Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Villarreal-Salazar","sequence":"additional","affiliation":[{"name":"Mitochondrial and Neuromuscular Disorders Unit, Vall d\u2019Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noem\u00ed","family":"de Luna","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, 08041 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7414-212X","authenticated-orcid":false,"given":"Gisela","family":"Nogales-Gadea","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Grup de Recerca en Malalties Neuromusculars i Neuropedi\u00e0triques, Department of Neurosciences, Institut d\u2019Investigacio en Ciencies de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Aut\u00f2noma de Barcelona, 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Real-Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Mitochondrial and Neuromuscular Disorders Unit, Vall d\u2019Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoni L.","family":"Andreu","sequence":"additional","affiliation":[{"name":"EATRIS, European Infrastructure for Translational Medicine, 1081 HZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4741-772X","authenticated-orcid":false,"given":"Miguel Angel","family":"Mart\u00edn","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital Research Institute (i+12), 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaquin","family":"Arenas","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital Research Institute (i+12), 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Lucia","sequence":"additional","affiliation":[{"name":"Faculty of Sport Sciences, European University, 28670 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9330-668X","authenticated-orcid":false,"given":"Thomas","family":"Krag","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom\u00e0s","family":"Pin\u00f3s","sequence":"additional","affiliation":[{"name":"Mitochondrial and Neuromuscular Disorders Unit, Vall d\u2019Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.ijsu.2019.10.015","article-title":"The current state of animal models in research: A review","volume":"72","author":"Robinson","year":"2019","journal-title":"Int. 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