{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T03:22:41Z","timestamp":1791256961425,"version":"4.1.0"},"reference-count":69,"publisher":"The Company of Biologists","issue":"11","license":[{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.biologists.com\/user-licence-1-1"}],"funder":[{"DOI":"10.13039\/100006955","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1R01HL109209-01A1"],"award-info":[{"award-number":["1R01HL109209-01A1"]}],"id":[{"id":"10.13039\/100006955","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001674","name":"Leducq Foundation","doi-asserted-by":"crossref","award":["14-CVD 03"],"award-info":[{"award-number":["14-CVD 03"]}],"id":[{"id":"10.13039\/501100001674","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,6,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems. Although individuals with Danon disease have been clinically described since the early 1980s, the underlying molecular mechanisms involved in pathological progression remain poorly understood. LAMP-2 is known to be involved in autophagy, and a characteristic accumulation of autophagic vacuoles in the affected tissues further supports the idea that autophagy is disrupted in this disease. The LAMP2 gene is alternatively spliced to form three splice isoforms, which are thought to play different autophagy-related cellular roles. This Commentary explores findings from genetic, histological, functional and tissue expression studies that suggest that the specific loss of the LAMP-2B isoform, which is likely to be involved in macroautophagy, plays a crucial role in causing the Danon phenotype. We also compare findings from mouse and cellular models, which have allowed for further molecular characterization but have also shown phenotypic differences that warrant attention. Overall, there is a need to better functionally characterize the LAMP-2B isoform in order to rationally explore more effective therapeutic options for individuals with Danon disease.<\/jats:p>","DOI":"10.1242\/jcs.184770","type":"journal-article","created":{"date-parts":[[2016,5,11]],"date-time":"2016-05-11T03:25:07Z","timestamp":1462937107000},"page":"2135-2143","source":"Crossref","is-referenced-by-count":88,"title":["Danon disease \u2013 dysregulation of autophagy in a multisystem disorder with cardiomyopathy"],"prefix":"10.1242","volume":"129","author":[{"given":"Teisha J.","family":"Rowland","sequence":"first","affiliation":[{"name":"Cardiovascular Institute and \u2008 Adult Medical Genetics Program , , Aurora, CO 80045 , USA"},{"name":"University of Colorado Denver \u2008 Adult Medical Genetics Program , , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E.","family":"Sweet","sequence":"additional","affiliation":[{"name":"Cardiovascular Institute and \u2008 Adult Medical Genetics Program , , Aurora, CO 80045 , USA"},{"name":"University of Colorado Denver \u2008 Adult Medical Genetics Program , , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Mestroni","sequence":"additional","affiliation":[{"name":"Cardiovascular Institute and \u2008 Adult Medical Genetics Program , , Aurora, CO 80045 , USA"},{"name":"University of Colorado Denver \u2008 Adult Medical Genetics Program , , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew R. 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