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Review

Functions of Vertebrate Ferlins

1
Department of Internal Medicine 1, Goethe University Hospital Frankfurt, 60590 Frankfurt, Germany
2
Department of Child and Adolescent Health, University Medical Center Göttingen, 37075 Göttingen, Germany
*
Author to whom correspondence should be addressed.
Cells 2020, 9(3), 534; https://doi.org/10.3390/cells9030534
Received: 27 January 2020 / Revised: 20 February 2020 / Accepted: 20 February 2020 / Published: 25 February 2020
(This article belongs to the Section Cellular Pathology)
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. View Full-Text
Keywords: dysferlin; myoferlin; otoferlin; C2 domain; calcium-sensor; muscular dystrophy; dysferlinopathy; limb girdle muscular dystrophy type 2B (LGMD2B), membrane repair; T-tubule system; DFNB9 dysferlin; myoferlin; otoferlin; C2 domain; calcium-sensor; muscular dystrophy; dysferlinopathy; limb girdle muscular dystrophy type 2B (LGMD2B), membrane repair; T-tubule system; DFNB9
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MDPI and ACS Style

Bulankina, A.V.; Thoms, S. Functions of Vertebrate Ferlins. Cells 2020, 9, 534. https://doi.org/10.3390/cells9030534

AMA Style

Bulankina AV, Thoms S. Functions of Vertebrate Ferlins. Cells. 2020; 9(3):534. https://doi.org/10.3390/cells9030534

Chicago/Turabian Style

Bulankina, Anna V., and Sven Thoms. 2020. "Functions of Vertebrate Ferlins" Cells 9, no. 3: 534. https://doi.org/10.3390/cells9030534

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