Functions of vertebrate ferlins

  • 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.

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Metadaten
Author:Anna Valentinovna BulankinaGND, Sven P. ThomsORCiDGND
URN:urn:nbn:de:hebis:30:3-544267
DOI:https://doi.org/10.3390/cells9030534
Parent Title (English):Cells
Publisher:MDPI
Place of publication:Basel
Document Type:Article
Language:English
Date of Publication (online):2020/02/25
Date of first Publication:2020/02/25
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2020/04/08
Tag:C2 domain; DFNB9; T-tubule system; calcium-sensor; dysferlin; dysferlinopathy; limb girdle muscular dystrophy type 2B (LGMD2B); membrane repair; muscular dystrophy; myoferlin; otoferlin
Volume:9
Issue:534
Note:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
HeBIS-PPN:463772377
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Sammlungen:Universitätspublikationen
Licence (German):License LogoCreative Commons - Namensnennung 4.0