{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T23:47:53Z","timestamp":1780098473745,"version":"3.54.0"},"reference-count":104,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Spanish Ministerio de Ciencia e Innovaci\u00f3n (MCIU\/FEDER\/AEI)","award":["PID2020-118699GB-I00"],"award-info":[{"award-number":["PID2020-118699GB-I00"]}]},{"name":"Spanish Ministerio de Ciencia e Innovaci\u00f3n (MCIU\/FEDER\/AEI)","award":["NS097197-05S1P01"],"award-info":[{"award-number":["NS097197-05S1P01"]}]},{"DOI":"10.13039\/100000065","name":"National Institutes of Health (NIH-NINDS)","doi-asserted-by":"publisher","award":["PID2020-118699GB-I00"],"award-info":[{"award-number":["PID2020-118699GB-I00"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institutes of Health (NIH-NINDS)","doi-asserted-by":"publisher","award":["NS097197-05S1P01"],"award-info":[{"award-number":["NS097197-05S1P01"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Ministry of Economy (MINECO)","award":["PID2020-118699GB-I00"],"award-info":[{"award-number":["PID2020-118699GB-I00"]}]},{"name":"Spanish Ministry of Economy (MINECO)","award":["NS097197-05S1P01"],"award-info":[{"award-number":["NS097197-05S1P01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric symptoms, and cognitive deterioration and has a fatal outcome within 5\u201310 years after onset. The hallmark of the disease is the accumulation of poorly branched glycogen in the form of aggregates known as Lafora bodies in the brain and other tissues. Several reports have demonstrated that the accumulation of this abnormal glycogen underlies all the pathologic traits of the disease. For decades, Lafora bodies were thought to accumulate exclusively in neurons. However, it was recently identified that most of these glycogen aggregates are present in astrocytes. Importantly, astrocytic Lafora bodies have been shown to contribute to pathology in Lafora disease. These results identify a primary role of astrocytes in the pathophysiology of Lafora disease and have important implications for other conditions in which glycogen abnormally accumulates in astrocytes, such as Adult Polyglucosan Body disease and the buildup of Corpora amylacea in aged brains.<\/jats:p>","DOI":"10.3390\/cells12050722","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T03:01:01Z","timestamp":1677207661000},"page":"722","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8342-4882","authenticated-orcid":false,"given":"Jordi","family":"Duran","sequence":"first","affiliation":[{"name":"Institut Qu\u00edmic de Sarri\u00e0 (IQS), Universitat Ramon Llull (URL), 08017 Barcelona, Spain"},{"name":"Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"},{"name":"Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.bbacli.2016.02.001","article-title":"Glycogen Metabolism in Humans","volume":"5","year":"2016","journal-title":"BBA Clin."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"4246","DOI":"10.1073\/pnas.96.8.4246","article-title":"V-Amylose at Atomic Resolution: X-ray Structure of a Cycloamylose with 26 Glucose Residues (Cyclomaltohexaicosaose)","volume":"96","author":"Gessler","year":"1999","journal-title":"Proc. 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