{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:15:49Z","timestamp":1785795349177,"version":"3.56.0"},"reference-count":102,"publisher":"The Company of Biologists","issue":"10","license":[{"start":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T00:00:00Z","timestamp":1728864000000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"crossref","award":["JCB\/2022\/000007"],"award-info":[{"award-number":["JCB\/2022\/000007"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004541","name":"Ministry of Education, India","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004541","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Lafora disease (LD), a fatal neurodegenerative disorder, is caused by mutations in the EPM2A gene encoding laforin phosphatase or NHLRC1 gene encoding malin ubiquitin ligase. LD symptoms include epileptic seizures, ataxia, dementia and cognitive decline. Studies on LD have primarily concentrated on the pathophysiology in the brain. A few studies have reported motor symptoms, muscle weakness and muscle atrophy. Intriguingly, skeletal muscles are known to accumulate Lafora polyglucosan bodies. Using laforin-deficient mice, an established model for LD, we demonstrate that LD pathology correlated with structural and functional impairments in the neuromuscular junction (NMJ). Specifically, we found impairment in NMJ transmission, which coincided with altered expression of NMJ-associated genes and reduced motor endplate area, fragmented junctions and loss of fully innervated junctions at the NMJ. We also observed a reduction in alpha-motor neurons in the lumbar spinal cord, with significant presynaptic morphological alterations. Disorganised myofibrillar patterns, slight z-line streaming and muscle atrophy were also evident in LD animals. In summary, our study offers insight into the neuropathic and myopathic alterations leading to motor deficits in LD.<\/jats:p>","DOI":"10.1242\/dmm.050905","type":"journal-article","created":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T08:35:22Z","timestamp":1726821322000},"source":"Crossref","is-referenced-by-count":6,"title":["Neuromuscular junction dysfunction in Lafora disease"],"prefix":"10.1242","volume":"17","author":[{"given":"Monica","family":"Shukla","sequence":"first","affiliation":[{"name":"Indian Institute of Technology 1 Department of Biological Sciences and Bioengineering , , Kanpur 208016 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Chugh","sequence":"additional","affiliation":[{"name":"Indian Institute of Technology 1 Department of Biological Sciences and Bioengineering , , Kanpur 208016 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9908-9177","authenticated-orcid":false,"given":"Subramaniam","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Indian Institute of Technology 1 Department of Biological Sciences and Bioengineering , , Kanpur 208016 ,","place":["India"]},{"name":"Mehta Family Centre for Engineering in Medicine, Indian Institute of Technology 2 , Kanpur 208016 ,","place":["India"]},{"name":"Indian Institute of Technology 3 Gangwal School of Medical Sciences and Technology , , Kanpur 208016 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,10,14]]},"reference":[{"key":"2024102908460490200_DMM050905C1","doi-asserted-by":"publisher","first-page":"2867","DOI":"10.1093\/hmg\/ddq190","article-title":"Laforin, the most common protein mutated in Lafora disease, regulates autophagy","volume":"19","author":"Aguado","year":"2010","journal-title":"Hum. 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