Otoferlin
A potential Ca2+ sensor of transmitter release in hair cells of the inner ear
General references otoferlin
Schug N, Braig C, Zimmermann U, Engel J, Winter H, Ruth P, Blin N, Pfister M, Kalbacher H & Knipper M (2006). Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. European Journal of Neuroscience 24: 3372-80.Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T & Petit C (2006). Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127: 277-89.
Rodriguez-Ballesteros M, del Castillo FJ, Martin Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Teran J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F & del Castillo I (2003). Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Human Mutation 22: 451-6.
Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E & Kimberling WJ (2003). Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. Journal of Medical Genetics 40: 45-50. No abstract available
Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP & Blin N (2002). Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. Neurobiology of Disease 10: 157-64.
Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodriguez-Ballesteros M, Villamar M, Telleria D, Menendez I, Moreno F & del Castillo I (2002). Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. Journal of Medical Genetics 39: 502-6. No abstract available
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J & Petit C (1999). A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nature Genetics 21: 363-9.
