Journal article

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

A Lek, FJ Evesson, RB Sutton, KN North, ST Cooper

Traffic | Published : 2012

Abstract

Ferlins are a family of multiple C2 domain proteins with emerging roles in vesicle fusion and membrane trafficking. Ferlin mutations are associated with muscular dystrophy (dysferlin) and deafness (otoferlin) in humans, and infertility in Caenorhabditis elegans (Fer-1) and Drosophila (misfire), demonstrating their importance for normal cellular functioning. Ferlins show ancient origins in eukaryotic evolution and are detected in all eukaryotic kingdoms, including unicellular eukaryotes and apicomplexian protists, suggesting origins in a common ancestor predating eukaryotic evolutionary branching. The characteristic feature of the ferlin family is their multiple tandem cytosolic C2 domains (f..

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University of Melbourne Researchers

Grants

Awarded by National Institute of Arthritis and Musculoskeletal and Skin Diseases


Funding Acknowledgements

We thank the funding bodies supporting our work; the Australian National Health and Medical Research Council (S. T. C. and K. N. N. 570744), the Jain Foundation Inc (S. T. C.), the NSW Muscular Dystrophy Association (S. T. C. and K. N. N.) and the Brain Foundation (S. T. C. and K. N. N.). Graphic design for Figure 4 was obtained from Bodson designs (Sydney, Australia). We also thank the Joint Genome Institute (US Department of Energy) for facilitating access to unpublished sequence data.