Matches in SemOpenAlex for { <https://semopenalex.org/work/W1992083670> ?p ?o ?g. }
- W1992083670 endingPage "194" @default.
- W1992083670 startingPage "185" @default.
- W1992083670 abstract "Ferlins are a family of multiple C 2 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 C aenorhabditis 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 C 2 domains (five to seven C 2 domains), the most of any protein family, and an extremely rare feature amongst eukaryotic proteins. Ferlins also bear a unique nested DysF domain and small conserved 60–70 residue ferlin‐specific sequences (Fer domains). Ferlins segregate into two subtypes based on the presence (type I ferlin) or absence (type II ferlin) of the DysF and FerA domains. Ferlins have diverse tissue‐specific and developmental expression patterns, with ferlin animal models united by pathologies arising from defects in vesicle fusion. Consistent with their proposed role in vesicle trafficking, ferlin interaction partners include cytoskeletal motors, other vesicle‐associated trafficking proteins and transmembrane receptors or channels. Herein we summarize the research history of the ferlins, an intriguing family of structurally conserved proteins with a preserved ancestral function as regulators of vesicle fusion and receptor trafficking. image" @default.
- W1992083670 created "2016-06-24" @default.
- W1992083670 creator A5003438809 @default.
- W1992083670 creator A5008811325 @default.
- W1992083670 creator A5010795211 @default.
- W1992083670 creator A5015504090 @default.
- W1992083670 creator A5053165850 @default.
- W1992083670 date "2011-09-06" @default.
- W1992083670 modified "2023-10-02" @default.
- W1992083670 title "Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair" @default.
- W1992083670 cites W153720984 @default.
- W1992083670 cites W1551910894 @default.
- W1992083670 cites W1589189210 @default.
- W1992083670 cites W1592698849 @default.
- W1992083670 cites W1772894161 @default.
- W1992083670 cites W1809106246 @default.
- W1992083670 cites W1964162087 @default.
- W1992083670 cites W1969099911 @default.
- W1992083670 cites W1977229240 @default.
- W1992083670 cites W1977922844 @default.
- W1992083670 cites W1983351039 @default.
- W1992083670 cites W1984637591 @default.
- W1992083670 cites W1991180491 @default.
- W1992083670 cites W1992021138 @default.
- W1992083670 cites W2002473366 @default.
- W1992083670 cites W2004552697 @default.
- W1992083670 cites W2009038548 @default.
- W1992083670 cites W2012046013 @default.
- W1992083670 cites W2013898345 @default.
- W1992083670 cites W2018678459 @default.
- W1992083670 cites W2021157616 @default.
- W1992083670 cites W2023676009 @default.
- W1992083670 cites W2024906556 @default.
- W1992083670 cites W2028665411 @default.
- W1992083670 cites W2029160544 @default.
- W1992083670 cites W2030010320 @default.
- W1992083670 cites W2031223556 @default.
- W1992083670 cites W2032840486 @default.
- W1992083670 cites W2035406225 @default.
- W1992083670 cites W2038435397 @default.
- W1992083670 cites W2039381665 @default.
- W1992083670 cites W2043172254 @default.
- W1992083670 cites W2047136624 @default.
- W1992083670 cites W2049485334 @default.
- W1992083670 cites W2052185261 @default.
- W1992083670 cites W2062899296 @default.
- W1992083670 cites W2066781376 @default.
- W1992083670 cites W2071162640 @default.
- W1992083670 cites W2071320656 @default.
- W1992083670 cites W2071992906 @default.
- W1992083670 cites W2074784562 @default.
- W1992083670 cites W2076930915 @default.
- W1992083670 cites W2078577861 @default.
- W1992083670 cites W2083023384 @default.
- W1992083670 cites W2084392338 @default.
- W1992083670 cites W2086036400 @default.
- W1992083670 cites W2089108946 @default.
- W1992083670 cites W2091869150 @default.
- W1992083670 cites W2092333102 @default.
- W1992083670 cites W2097880588 @default.
- W1992083670 cites W2099194855 @default.
- W1992083670 cites W2099772345 @default.
- W1992083670 cites W2102958109 @default.
- W1992083670 cites W2104604160 @default.
- W1992083670 cites W2104737125 @default.
- W1992083670 cites W2105788894 @default.
- W1992083670 cites W2106862730 @default.
- W1992083670 cites W2111617373 @default.
- W1992083670 cites W2112697515 @default.
- W1992083670 cites W2113821057 @default.
- W1992083670 cites W2115254768 @default.
- W1992083670 cites W2116629782 @default.
- W1992083670 cites W2117155661 @default.
- W1992083670 cites W2117248014 @default.
- W1992083670 cites W2118881578 @default.
- W1992083670 cites W2122524549 @default.
- W1992083670 cites W2128084689 @default.
- W1992083670 cites W2134019081 @default.
- W1992083670 cites W2134811841 @default.
- W1992083670 cites W2139367964 @default.
- W1992083670 cites W2141885858 @default.
- W1992083670 cites W2146097739 @default.
- W1992083670 cites W2151651301 @default.
- W1992083670 cites W2153057807 @default.
- W1992083670 cites W2154129619 @default.
- W1992083670 cites W2154139219 @default.
- W1992083670 cites W2154403718 @default.
- W1992083670 cites W2155447804 @default.
- W1992083670 cites W2157599849 @default.
- W1992083670 cites W2159164732 @default.
- W1992083670 cites W2161973949 @default.
- W1992083670 cites W2162922569 @default.
- W1992083670 cites W2168335394 @default.
- W1992083670 cites W2169913182 @default.
- W1992083670 cites W2277813027 @default.
- W1992083670 cites W2312944535 @default.
- W1992083670 cites W2395541334 @default.
- W1992083670 cites W2977342201 @default.