gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Otoferlin

otoferlin, OTOF, DFNB9
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAIR, Cx26, CAN, HAD, PGD2
Papers on otoferlin
Thyroid hormone is required for the pruning of afferent type II spiral ganglion neurons in the mouse cochlea.
New
Mustapha et al., Stanford, United States. In Neuroscience, Feb 2016
Using a transgenic approach to specifically label type II spiral ganglion neurons (SGNs), we found that lack of TH causes persistence of excess type II SGN connections to the OHCs, as well as continued expression of the hair cell functional marker, otoferlin (OTOF), in the OHCs beyond the maturation period.
Temperature Sensitive Auditory Neuropathy.
New
Wang et al., Beijing, China. In Hear Res, Feb 2016
Genetic analysis revealed that these three patients had otoferlin (OTOF) homozygous or compound heterozygous mutations with the genotypes c.2975_2978delAG/c.4819C>T, c.4819C>T/c.4819C>T, or c.2382_2383delC/c.1621G>A, respectively.
Ferlins show tissue-specific expression and segregate as plasma membrane/late endosomal or trans-Golgi/recycling ferlins.
New
Cooper et al., Sydney, Australia. In Traffic, Jan 2016
In humans, dysferlin mutations cause limb-girdle muscular dystrophy (LGMD2B) due to defective Ca(2+) -dependent, vesicle-mediated membrane repair and otoferlin mutations cause non-syndromic deafness due to defective Ca(2+) -triggered auditory neurotransmission.
Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.
Review
New
Starr et al., Padova, Italy. In Hear Res, Dec 2015
Mutations in the OTOF gene encoding otoferlin result in a disrupted function of the ribbon synapses with impairment of the multivesicular glutamate release.
Disruption of adaptor protein 2μ (AP-2μ) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing.
New
Moser et al., Göttingen, Germany. In Embo J, Dec 2015
Finally, we show that AP-2 sorts its IHC-cargo otoferlin.
Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.
New
Choi et al., Seoul, South Korea. In Medicine (baltimore), Nov 2015
The results of timely cochlear implantation for OTOF-related ANSD (DFNB9) have been reported to be good.
A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells.
Dulon et al., Bordeaux, France. In Elife, 2014
Furthermore, this F-actin mesh network attached to the synaptic ribbons directly influences the efficiency of otoferlin-dependent exocytosis and its sensitivity to intracellular hydrostatic pressure, independently of its action on the Cav1.3 channels.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Review
Choi et al., Seoul, South Korea. In Korean J Audiol, 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
[Personalized molecular medicine: new paradigms in the treatment of cochlear implant and cancer patients].
Review
Röcken et al., Tübingen, Germany. In Hno, 2014
RESULTS: Personalized medicine based on molecular-genetic evaluation of functional proteins such as otoferlin, connexin 26 and KCNQ4 or the Usher gene is becoming increasingly important for the indication of CI in the context of infant deafness.
Exocytosis and synaptic vesicle function.
Review
Shin, Galveston, United States. In Compr Physiol, 2014
Otoferlin, another type of vesicular C2 domain protein that binds to the membrane in a Ca(2+)-dependent manner, is also involved in the Ca(2+)-triggered synaptic vesicle exocytosis in auditory hair cells.
Otoferlin: a multi-C2 domain protein essential for hearing.
Review
Moser et al., Göttingen, Germany. In Trends Neurosci, 2012
Here we review progress toward understanding otoferlin, a multi-C2 domain protein identified a decade ago by genetic analysis of human deafness.
Ergic2, a brain specific interacting partner of Otoferlin.
GeneRIF
Blin et al., Tübingen, Germany. In Cell Physiol Biochem, 2011
Co-localization studies revealed an overlap of Ergic2 and Otoferlin signals in IHCs and neurons of cerebral cortical layer I making Ergic2 the promising binding candidate
Probing the functional equivalence of otoferlin and synaptotagmin 1 in exocytosis.
GeneRIF
Moser et al., Göttingen, Germany. In J Neurosci, 2011
Otoferlin deletion does not affect transmitter release at hippocampal synapses.
The crystal structure of the C₂A domain of otoferlin reveals an unconventional top loop region.
GeneRIF
Reisinger et al., Göttingen, Germany. In J Mol Biol, 2011
Otof CA domain differs structurally and functionally from other C(2) domains
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
GeneRIF
Qiu et al., Xi'an, China. In Plos One, 2010
OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients
Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells.
GeneRIF
Dulon et al., Bordeaux, France. In J Neurosci, 2010
Otoferlin underlies highly efficient calcium ion-dependent membrane fusion, a process likely essential to increase the probability and synchrony of vesicle fusion events at the mature inner hair cell ribbon synapse.
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
Impact
GeneRIF
Petit et al., Paris, France. In Cell, 2006
Otoferlin is essential for a late step of synaptic vesicle exocytosis and may act as the major Ca(2+) sensor triggering membrane fusion at the auditory inner hair cell ribbon synapse.
Snaring otoferlin's role in deafness.
Impact
Roberts, Eugene, United States. In Cell, 2006
Mutations in the gene encoding otoferlin are known to cause deafness, but the mechanism is unclear.
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Impact
Wilcox et al., Rockville, United States. In Nat Genet, 2000
So far, 30 nonsyndromic recessive deafness loci have been mapped and the defective genes at 6 loci, DFNB1, DFNB2, DFNB3, DFNB4, DFNB9 and DNFB21, have been identified, encoding connexin-26 (ref.
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Impact
Petit et al., Paris, France. In Nat Genet, 1999
Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an autosomal recessive, nonsyndromic prelingual deafness, DFNB9.
share on facebooktweetadd +1mail to friends