{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:46:06Z","timestamp":1792788366731,"version":"4.5.0"},"reference-count":76,"publisher":"The Company of Biologists","issue":"1","license":[{"start":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T00:00:00Z","timestamp":1672963200000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","award":["P01NS097197"],"award-info":[{"award-number":["P01NS097197"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Dr Roy Elterman"},{"DOI":"10.13039\/100007914","name":"University of Texas Southwestern Medical Center","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007914","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Glycogen is the largest cytosolic macromolecule and is kept in solution through a regular system of short branches allowing hydration. This structure was thought to solely require balanced glycogen synthase and branching enzyme activities. Deposition of overlong branched glycogen in the fatal epilepsy Lafora disease (LD) indicated involvement of the LD gene products laforin and the E3 ubiquitin ligase malin in regulating glycogen structure. Laforin binds glycogen, and LD-causing mutations disrupt this binding, laforin\u2013malin interactions and malin's ligase activity, all indicating a critical role for malin. Neither malin's endogenous function nor location had previously been studied due to lack of suitable antibodies. Here, we generated a mouse in which the native malin gene is tagged with the FLAG sequence. We show that the tagged gene expresses physiologically, malin localizes to glycogen, laforin and malin indeed interact, at glycogen, and malin's presence at glycogen depends on laforin. These results, and mice, open the way to understanding unknown mechanisms of glycogen synthesis critical to LD and potentially other much more common diseases due to incompletely understood defects in glycogen metabolism.<\/jats:p>","DOI":"10.1242\/dmm.049802","type":"journal-article","created":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T04:59:50Z","timestamp":1670907590000},"source":"Crossref","is-referenced-by-count":20,"title":["Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7259-1482","authenticated-orcid":false,"given":"Sharmistha","family":"Mitra","sequence":"first","affiliation":[{"name":"University of Texas Southwestern Medical Center 1 Division of Neurology, Department of Pediatrics , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baozhi","family":"Chen","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center 1 Division of Neurology, Department of Pediatrics , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9353-6952","authenticated-orcid":false,"given":"Peixiang","family":"Wang","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children Research Institute 2 Program in Genetics and Genome Biology , , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin E.","family":"Chown","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children Research Institute 2 Program in Genetics and Genome Biology , , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathew","family":"Dear","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center 1 Division of Neurology, Department of Pediatrics , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dikran R.","family":"Guisso","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center 1 Division of Neurology, Department of Pediatrics , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ummay","family":"Mariam","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center 1 Division of Neurology, Department of Pediatrics , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Wu","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center 1 Division of Neurology, Department of Pediatrics , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emrah","family":"Gumusgoz","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center 3 Department of Pathology , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9322-0189","authenticated-orcid":false,"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center 1 Division of Neurology, Department of Pediatrics , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2023,1,6]]},"reference":[{"key":"2023010613011448500_DMM049802C1","doi-asserted-by":"publisher","first-page":"4430","DOI":"10.1093\/hmg\/ddr371","article-title":"Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV","volume":"20","author":"Akman","year":"2011","journal-title":"Hum. 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