TY  - JOUR
A1  - Bulankina, Anna Valentinovna
A1  - Thoms, Sven P.
T1  - Functions of vertebrate ferlins
T2  - Cells
N2  - 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.
KW  - dysferlin
KW  - myoferlin
KW  - otoferlin
KW  - C2 domain
KW  - calcium-sensor
KW  - muscular dystrophy
KW  - dysferlinopathy
KW  - limb girdle muscular dystrophy type 2B (LGMD2B)
KW  - membrane repair
KW  - T-tubule system
KW  - DFNB9
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54426
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-544267
N1  - 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
VL  - 9
IS  - 534
PB  - MDPI
CY  - Basel
ER  -