{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T21:19:17Z","timestamp":1770067157963,"version":"3.49.0"},"reference-count":52,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,7,1]],"date-time":"2012-07-01T00:00:00Z","timestamp":1341100800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Neurology"],"published-print":{"date-parts":[[2012,7]]},"DOI":"10.1016\/j.expneurol.2012.04.008","type":"journal-article","created":{"date-parts":[[2012,4,19]],"date-time":"2012-04-19T13:56:48Z","timestamp":1334843808000},"page":"131-140","source":"Crossref","is-referenced-by-count":22,"title":["Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice"],"prefix":"10.1016","volume":"236","author":[{"given":"Jes\u00fas","family":"Machado-Salas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Rosa","family":"Avila-Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Guevara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Guevara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reyna M.","family":"Dur\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongsheng","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miyabi","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiro","family":"Yamakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio V.","family":"Delgado-Escueta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.expneurol.2012.04.008_bb0005","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/BF00691185","article-title":"Status marmoratus and Bielschowsky bodies. A report of two cases and review of the literature","volume":"56","author":"Adler","year":"1982","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0010","first-page":"615","article-title":"Lafora bodies in the retina of various animals","volume":"5","author":"Antal","year":"1982","journal-title":"J. Fr. Ophtalmol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0015","first-page":"513","article-title":"Beitrage zur Histopathologie der Ganglienzelle","volume":"18","author":"Bielschowski","year":"1912","journal-title":"J. Psychol. Neurol. (Lpz.)"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0020","doi-asserted-by":"crossref","first-page":"3489","DOI":"10.1523\/JNEUROSCI.07-11-03489.1987","article-title":"Two-stage expression of neurofilament polypeptides during rat neurogenesis with early establishment of adult phosphorylation","volume":"7","author":"Carden","year":"1987","journal-title":"J. Neurosci."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0025","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0165-0173(99)00003-X","article-title":"Corpora-amylacea and the family of polyglucosan diseases","volume":"29","author":"Cavanagh","year":"1999","journal-title":"Brain Res. Brain Res. Rev."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0035","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1136\/jmg.40.9.671","article-title":"Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22","volume":"40","author":"Chan","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0030","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1093\/hmg\/ddh130","article-title":"Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy","volume":"13","author":"Chan","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0040","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1212\/01.WNL.0000133215.65836.03","article-title":"Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus","volume":"63","author":"Chan","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0045","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/BF00688919","article-title":"Bielschowski bodies: Lafora-like inclusions associated with atrophy of the lateral pallidum","volume":"30","author":"de Leon","year":"1974","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0050","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1007\/s11910-007-0066-7","article-title":"Advances in Lafora progressive myoclonus epilepsy","volume":"7","author":"Delgado-Escueta","year":"2007","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0060","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ajmg.1575","article-title":"Advances in the genetics of progressive myoclonus epilepsy","volume":"106","author":"Delgado-Escueta","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0055","series-title":"Encyclopedia of Molecular Mechanisms of Disease","first-page":"1134","article-title":"Lafora's progressive myoclonus epilepsy","author":"Delgado-Escueta","year":"2009"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0065","series-title":"Immunohistopathology. A Practical Approach to Diagnosis","author":"Elias","year":"1990"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0070","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1042\/bj2520655","article-title":"Influence of the phosphorylation state of neurofilament proteins on the in vitro interactions between purified filaments","volume":"252","author":"Eyer","year":"1988","journal-title":"Biochem. J."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0075","doi-asserted-by":"crossref","first-page":"3161","DOI":"10.1093\/hmg\/ddg340","article-title":"Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation","volume":"12","author":"Fernandez-Sanchez","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0080","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1093\/oxfordjournals.hmg.a018916","article-title":"Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes","volume":"9","author":"Ganesh","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0085","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1093\/hmg\/11.11.1251","article-title":"Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice","volume":"11","author":"Ganesh","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0090","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10038-005-0321-1","article-title":"Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy","volume":"51","author":"Ganesh","year":"2006","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0095","doi-asserted-by":"crossref","first-page":"8501","DOI":"10.1073\/pnas.0503285102","article-title":"Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin","volume":"102","author":"Gentry","year":"2005","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0100","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1038\/sj.ejhg.5200571","article-title":"Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions","volume":"8","author":"Gomez-Garre","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0105","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1177\/030098589803500307","article-title":"Lafora bodies associated with neurologic signs in a cat","volume":"35","author":"Hall","year":"1998","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0110","doi-asserted-by":"crossref","first-page":"2038","DOI":"10.1074\/jbc.272.4.2038","article-title":"Nontoxic amyloid beta peptide 1\u201342 suppresses acetylcholine synthesis. Possible role in cholinergic dysfunction in Alzheimer's disease","volume":"272","author":"Hoshi","year":"1997","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0115","doi-asserted-by":"crossref","first-page":"54","DOI":"10.2183\/pjab.86.54","article-title":"The biochemical study on the etiology of Alzheimer's disease","volume":"86","author":"Imahori","year":"2010","journal-title":"Proc. Jpn. Acad. Ser. B Phys. Biol. Sci."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0120","doi-asserted-by":"crossref","first-page":"10897","DOI":"10.1016\/S0021-9258(19)50102-8","article-title":"Tau protein kinase I converts normal tau protein into A68-like component of paired helical filaments","volume":"267","author":"Ishiguro","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0125","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00334511","article-title":"Immunoreactivity of canine and feline polyglucosan bodies for monoclonal antibody against human polyglucosan","volume":"81","author":"Kamiya","year":"1990","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0130","first-page":"295","article-title":"Uber das Vorkommen amyloider Korperchen im Inneren der Ganmglienzellen","volume":"vol. 205","author":"Lafora","year":"1911"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0140","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1073\/pnas.85.6.1998","article-title":"Identification of the major multiphosphorylation site in mammalian neurofilaments","volume":"85","author":"Lee","year":"1988","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0145","series-title":"Manual of Histologic Staining Methods of the Armed Forces Institute of Pathology","first-page":"158","author":"Luna","year":"1968"},{"issue":"Suppl. 6","key":"10.1016\/j.expneurol.2012.04.008_bb0150","first-page":"3","article-title":"Neurocytoskeletal features in Lafora disease null mutant mice","volume":"46","author":"Machado-Salas","year":"2005","journal-title":"Epilepsia"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0155","series-title":"International workshop, Sarlat, France","article-title":"Laforin-deficient mice neuropile. A light and electron microscopy study. Progressive myoclonus epilepsies: focus on Lafora and Unverricht-Lundborg diseases","author":"Machado-Salas","year":"2007"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0160","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0887-8994(00)00276-9","article-title":"Lafora's disease: towards a clinical, pathologic, and molecular synthesis","volume":"25","author":"Minassian","year":"2001","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0165","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/2470","article-title":"Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy","volume":"20","author":"Minassian","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0175","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s004010051048","article-title":"Immunohistochemical, conventional and immunoelectron microscopical characteristics of periodic acid-Schiff-positive granules in the mouse brain","volume":"98","author":"Mitsuno","year":"1999","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0170","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1093\/hmg\/ddm006","article-title":"Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment","volume":"16","author":"Mittal","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0180","series-title":"Immunoperoxidase Techniques, a Practical Approach to Tumor Diagnosis","author":"Nadji","year":"1986"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0185","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/BF00690453","article-title":"Intraneuronal polyglucosan storage restricted to the lateral pallidum (Bielschowsky bodies). A golgi, light, and electron microscopic study","volume":"51","author":"Probst","year":"1980","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0190","doi-asserted-by":"crossref","first-page":"22657","DOI":"10.1074\/jbc.M109.009688","article-title":"Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease","volume":"284","author":"Puri","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0195","series-title":"Elementos de t\u00e9cnica microgr\u00e1fica del sistema nervioso","first-page":"283","author":"Ram\u00f3n y Cajal","year":"1972"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0200","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/hmg\/8.2.345","article-title":"A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)","volume":"8","author":"Serratosa","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0205","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/S0021-9975(08)80316-7","article-title":"Lafora disease in the cow?","volume":"110","author":"Simmons","year":"1994","journal-title":"J. Comp. Pathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0210","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.brainres.2004.05.069","article-title":"Induction of activated caspase-3-immunoreactivity and apoptosis in the trigeminal ganglion neurons by neonatal peripheral nerve injury","volume":"1017","author":"Sugimoto","year":"2004","journal-title":"Brain Res."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0215","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00691070","article-title":"Lafora-like inclusion bodies in the CNS of aged dogs","volume":"44","author":"Suzuki","year":"1978","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0220","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/BF00690756","article-title":"Topographic distribution pattern of Lafora-like bodies in the spinal cord of some animals","volume":"49","author":"Suzuki","year":"1980","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0225","doi-asserted-by":"crossref","first-page":"33816","DOI":"10.1074\/jbc.M807428200","article-title":"Abnormal metabolism of glycogen phosphate as a cause for Lafora disease","volume":"283","author":"Tagliabracci","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0230","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1523\/JNEUROSCI.06-03-00650.1986","article-title":"Expression of neurofilament subunits in neurons of the central and peripheral nervous system: an immunohistochemical study with monoclonal antibodies","volume":"6","author":"Trojanowski","year":"1986","journal-title":"J. Neurosci."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0235","series-title":"The Epilepsies","first-page":"382","article-title":"Lafora disease, a form of progressive myoclonus epilepsy","volume":"15","author":"Van Heycop Ten Ham","year":"1975"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0240","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00688087","article-title":"Progressive familial myoclonic epilepsy with Lafora bodies. Electron microscopic and histochemical study of a cerebral biopsy","volume":"7","author":"Van Hoof","year":"1967","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0245","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1074\/jbc.C100686200","article-title":"A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen","volume":"277","author":"Wang","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0250","doi-asserted-by":"crossref","first-page":"2364","DOI":"10.1111\/j.1471-4159.2008.05578.x","article-title":"Temporal correlation of the memory deficit with Alzheimer-like lesions induced by activation of glycogen synthase kinase-3","volume":"106","author":"Wang","year":"2008","journal-title":"J. Neurochem."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0260","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1007\/s004010050513","article-title":"Preferential labeling of Alzheimer neurofibrillary tangles with antisera for tau protein kinase (TPK) I glycogen synthase kinase-3 beta and cyclin-dependent kinase 5, a component of TPK II","volume":"92","author":"Yamaguchi","year":"1996","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.expneurol.2012.04.008_bb0265","first-page":"787","article-title":"Comparative study of intraneuronal polyglucosan bodies in brains from patients with Lafora disease and aged dogs","volume":"42","author":"Yamanami","year":"1992","journal-title":"Acta Pathol. Jpn."},{"key":"10.1016\/j.expneurol.2012.04.008_bb0255","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/BF00294362","article-title":"Polyglucosan bodies in the brain of a cow","volume":"88","author":"Yanai","year":"1994","journal-title":"Acta Neuropathol."}],"container-title":["Experimental Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014488612001604?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014488612001604?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,1,13]],"date-time":"2022-01-13T10:34:04Z","timestamp":1642070044000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014488612001604"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["S0014488612001604"],"URL":"https:\/\/doi.org\/10.1016\/j.expneurol.2012.04.008","relation":{},"ISSN":["0014-4886"],"issn-type":[{"value":"0014-4886","type":"print"}],"subject":[],"published":{"date-parts":[[2012,7]]}}}