Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse
about
Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathwayAutosomal recessive nonsyndromic deafness genes: a reviewCargos and genes: insights into vesicular transport from inherited human diseaseImpairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.Cell biology of Ca2+-triggered exocytosisNew Insights into How Trafficking Regulates T Cell Receptor SignalingThe dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsGenetics of hearing and deafnessDistinct initial SNARE configurations underlying the diversity of exocytosisFerlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repairThe Ca2+ channel subunit beta2 regulates Ca2+ channel abundance and function in inner hair cells and is required for hearingDetecting signatures of positive selection associated with musical aptitude in the human genomeSensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3.New insights into cochlear sound encodingThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsLocalization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsOtoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cellsSynaptotagmin IV determines the linear Ca2+ dependence of vesicle fusion at auditory ribbon synapses.A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouseMice lacking the cerebral cortex develop normal song: insights into the foundations of vocal learningParallel evolution of auditory genes for echolocation in bats and toothed whalesMice do not require auditory input for the normal development of their ultrasonic vocalizations.Membrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signalingThyroid hormone is required for the pruning of afferent type II spiral ganglion neurons in the mouse cochlea.Cochlear hair cells: The sound-sensing machines.Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.Activity-dependent regulation of prestin expression in mouse outer hair cellsDeletion of Shank1 has minimal effects on the molecular composition and function of glutamatergic afferent postsynapses in the mouse inner earA novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.Synaptic transmission between end bulbs of Held and bushy cells in the cochlear nucleus of mice with a mutation in Otoferlin.Connecting the ear to the brain: Molecular mechanisms of auditory circuit assembly.Inner hair cell ribbon synapse plasticity might be molecular basis of temporary hearing threshold shifts in mice.Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin.Specific synaptopathies diversify brain responses and hearing disorders: you lose the gain from early life.Relating structure and function of inner hair cell ribbon synapses.Evidence for genotype-phenotype correlation for OTOF mutations.The precise temporal pattern of prehearing spontaneous activity is necessary for tonotopic map refinementMorphological and physiological development of auditory synapses.A simple method for purification of vestibular hair cells and non-sensory cells, and application for proteomic analysis.Developmental refinement of hair cell synapses tightens the coupling of Ca2+ influx to exocytosis.
P2860
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P2860
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@ast
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@en
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@nl
type
label
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@ast
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@en
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@nl
prefLabel
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@ast
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@en
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@nl
P2093
P50
P921
P3181
P1433
P1476
Otoferlin, defective in a huma ...... at the auditory ribbon synapse
@en
P2093
Ghislaine Hamard
Isabelle Perfettini
Isabelle Roux
Marie-Christine Simmler
Morgane Le Gall
Philippe Rostaing
P304
P3181
P356
10.1016/J.CELL.2006.08.040
P407
P50
P577
2006-10-01T00:00:00Z