{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T12:10:48Z","timestamp":1790338248627,"version":"4.1.0"},"reference-count":235,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T00:00:00Z","timestamp":1582588800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG 1538\/1-1"],"award-info":[{"award-number":["DFG 1538\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB 1002\/2 TP A10"],"award-info":[{"award-number":["SFB 1002\/2 TP A10"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010570","name":"Nieders\u00e4chsisches Ministerium f\u00fcr Wissenschaft und Kultur","doi-asserted-by":"publisher","award":["Project 131260\/ZN2921"],"award-info":[{"award-number":["Project 131260\/ZN2921"]}],"id":[{"id":"10.13039\/501100010570","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007952","name":"Eva Luise und Horst K\u00f6hler Stiftung","doi-asserted-by":"publisher","award":["Reseach Prize 2016"],"award-info":[{"award-number":["Reseach Prize 2016"]}],"id":[{"id":"10.13039\/501100007952","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6 and the long noncoding RNA Fer1L4. Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopathies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. A mutation in MYOF (myoferlin) was linked to a muscular dystrophy accompanied by cardiomyopathy. Mutations in OTOF (otoferlin) can be the cause of nonsyndromic deafness DFNB9. Dysregulated expression of any human ferlin may be associated with development of cancer. This review provides a detailed description of functions of the vertebrate ferlins with a focus on muscle ferlins and discusses the mechanisms leading to disease development.<\/jats:p>","DOI":"10.3390\/cells9030534","type":"journal-article","created":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T04:18:29Z","timestamp":1582690709000},"page":"534","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Functions of Vertebrate Ferlins"],"prefix":"10.3390","volume":"9","author":[{"given":"Anna V.","family":"Bulankina","sequence":"first","affiliation":[{"name":"Department of Internal Medicine 1, Goethe University Hospital Frankfurt, 60590 Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3018-6363","authenticated-orcid":false,"given":"Sven","family":"Thoms","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Health, University Medical Center G\u00f6ttingen, 37075 G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,2,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1242\/jcs.198861","article-title":"Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy","volume":"130","author":"Hofhuis","year":"2017","journal-title":"J. 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