{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T14:38:27Z","timestamp":1783521507332,"version":"3.55.0"},"reference-count":46,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T00:00:00Z","timestamp":1679529600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004837","name":"Spanish Ministry of Science and Innovation","doi-asserted-by":"publisher","award":["PID2020-112972RB-I00"],"award-info":[{"award-number":["PID2020-112972RB-I00"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Spanish Ministry of Science and Innovation","doi-asserted-by":"publisher","award":["202032"],"award-info":[{"award-number":["202032"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Spanish Ministry of Science and Innovation","doi-asserted-by":"publisher","award":["P01NS097197"],"award-info":[{"award-number":["P01NS097197"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundaci\u00f3 La Marat\u00f3 TV3","award":["PID2020-112972RB-I00"],"award-info":[{"award-number":["PID2020-112972RB-I00"]}]},{"name":"Fundaci\u00f3 La Marat\u00f3 TV3","award":["202032"],"award-info":[{"award-number":["202032"]}]},{"name":"Fundaci\u00f3 La Marat\u00f3 TV3","award":["P01NS097197"],"award-info":[{"award-number":["P01NS097197"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["PID2020-112972RB-I00"],"award-info":[{"award-number":["PID2020-112972RB-I00"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["202032"],"award-info":[{"award-number":["202032"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P01NS097197"],"award-info":[{"award-number":["P01NS097197"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Lafora disease (LD) is a neurological disorder characterized by progressive myoclonus epilepsy. The hallmark of the disease is the presence of insoluble forms of glycogen (polyglucosan bodies, or PGBs) in the brain. The accumulation of PGBs is causative of the pathophysiological features of LD. However, despite the efforts made by different groups, the question of why PGBs accumulate in the brain is still unanswered. We have recently demonstrated that, in vivo, astrocytes accumulate most of the PGBs present in the brain, and this could lead to astrocyte dysfunction. To develop a deeper understanding of the defects present in LD astrocytes that lead to LD pathophysiology, we obtained pure primary cultures of astrocytes from LD mice from the postnatal stage under conditions that accumulate PGBs, the hallmark of LD. These cells serve as novel in vitro models for studying PGBs accumulation and related LD dysfunctions. In this sense, the metabolomics of LD astrocytes indicate that they accumulate metabolic intermediates of the upper part of the glycolytic pathway, probably as a consequence of enhanced glucose uptake. In addition, we also demonstrate the feasibility of using the model in the identification of different compounds that may reduce the accumulation of polyglucosan inclusions.<\/jats:p>","DOI":"10.3390\/ijms24076020","type":"journal-article","created":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T03:07:57Z","timestamp":1679540877000},"page":"6020","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8759-8794","authenticated-orcid":false,"given":"Mireia","family":"Moreno-Estell\u00e9s","sequence":"first","affiliation":[{"name":"Instituto de Biomedicina de Valencia (IBV-CSIC), 46010 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)-ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngela","family":"Campos-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Valencia (IBV-CSIC), 46010 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)-ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Rubio-Villena","sequence":"additional","affiliation":[{"name":"Institute for Integrative Systems Biology (I2SysBio), Consejo Superior de Investigaciones Cient\u00edficas (CSIC)\u2014Universitat de Val\u00e8ncia (UV), Parc Cient\u00edfic, Cat. Agust\u00edn Escardino 9, 46980 Paterna, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Kumarasinghe","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Valencia (IBV-CSIC), 46010 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)-ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6483-3912","authenticated-orcid":false,"given":"Maria Adelaida","family":"Garcia-Gimeno","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Escuela T\u00e9cnica Superior de Ingenier\u00eda Agron\u00f3mica y del Medio Natural (ETSIAMN), Universitat Polit\u00e9cnica de Val\u00e8ncia, 46022 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2399-4103","authenticated-orcid":false,"given":"Pascual","family":"Sanz","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Valencia (IBV-CSIC), 46010 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)-ISCIII, 28029 Madrid, Spain"},{"name":"Consejo Superior de Investigaciones Cient\u00edficas, Jaime Roig 11, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF02863929","article-title":"Beitrag zur histopathologie der myoklonischen epilepsie","volume":"6","author":"Lafora","year":"1911","journal-title":"Z. 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