{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T08:01:59Z","timestamp":1791014519793,"version":"4.1.0"},"reference-count":88,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,3,16]],"date-time":"2012-03-16T00:00:00Z","timestamp":1331856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The FEBS Journal"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:p>Lafora disease (LD) is a rare, fatal neurodegenerative disorder characterized by the accumulation of glycogen\u2010like inclusions in the cytoplasm of cells from most tissues of affected patients. One hundred years after the first description of these inclusions, the molecular bases underlying the processes involved in LD physiopathology are finally being elucidated. The main cause of the disease is related to the activity of two proteins, the dual\u2010specificity phosphatase laforin and the E3\u2010ubiquitin ligase malin, which form a functional complex. Laforin is unique in humans, as it is composed of a carbohydrate\u2010binding module attached to a cysteine\u2010based catalytic dual\u2010specificity phosphatase domain. Laforin directly dephosphorylates glycogen, but other proteinaceous substrates, if they exist, have remained elusive. Recently, an emerging set of laforin\u2010binding partners apart from malin have been described, suggestive of laforin roles unrelated to its catalytic activity. Further investigations based on different transgenic mouse models have shown that the laforin\u2013malin complex is also involved in other cellular processes, such as response to endoplasmic reticulum stress and misfolded protein clearance by the lysosomal pathway. However, controversial data and some missing links still make it difficult to assess the concrete relationship between glycogen deregulation and neuronal damage leading to the fatal symptoms observed in LD patients, such as myoclonic seizures and epilepsy. Consequently, clinical treatments are far from being achieved. In the present review, we focus on the knowledge of laforin biology, not only as a glucan phosphatase, but also as an adaptor protein involved in several physiological pathways.<\/jats:p>","DOI":"10.1111\/j.1742-4658.2012.08549.x","type":"journal-article","created":{"date-parts":[[2012,2,24]],"date-time":"2012-02-24T20:56:46Z","timestamp":1330117006000},"page":"525-537","source":"Crossref","is-referenced-by-count":67,"title":["Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii"],"prefix":"10.1111","volume":"280","author":[{"given":"Matthew S.","family":"Gentry","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Rom\u00e1\u2010Mateo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascual","family":"Sanz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,16]]},"reference":[{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-007-0066-7"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2009.08.002"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0321-1"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02863929"},{"key":"e_1_2_9_6_2","first-page":"239","article-title":"Myoclonus epilepsy with Lafora bodies. 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