Syntaxin: a synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones, Science, vol.257, pp.13214-98, 1992. ,
Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells, Journal of Neuroscience, vol.30, p.20926654, 2010. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01472847
Calcium dependence of exocytosis and endocytosis at the cochlear inner hair cell afferent synapse, Neuron, vol.29, p.11301027, 2001. ,
Image restoration for confocal microscopy: improving the limits of deconvolution, with application to the visualization of the mammalian hearing organ, Biophysical Journal, vol.80, p.11325744, 2001. ,
Few CaV1.3 channels regulate the exocytosis of a synaptic vesicle at the hair cell ribbon synapse, Journal of Neuroscience, vol.25, p.16354915, 2005. ,
Synaptotagmin: a calcium sensor on the synaptic vesicle surface, Science, vol.256, p.1589771, 1992. ,
Onset coding is degraded in auditory nerve fibers from mutant mice lacking synaptic ribbons, Journal of Neuroscience, vol.30, p.20519533, 2010. ,
Calcium-induced calcium release supports recruitment of synaptic vesicles in auditory hair cells, Journal of Neurophysiology, vol.115, p.26510758, 2016. ,
Structure parameters of synaptic vesicles quantified by small-angle x-ray scattering, Biophysical Journal, vol.98, p.20371319, 2010. ,
Uniquantal release through a dynamic fusion pore is a candidate mechanism of hair cell exocytosis, Neuron, vol.83, p.25199706, 2014. ,
Synaptotagmin 2 Is the Fast Ca (2+ ) Sensor at a central inhibitory synapse, Cell Reports, vol.18, p.99850, 2017. ,
Image-adaptive deconvolution for three-dimensional deep biological imaging, Biophysical Journal, vol.85, issue.03, p.14645088, 2003. ,
Otoferlin is critical for a highly sensitive and linear calciumdependent exocytosis at vestibular hair cell ribbon synapses, Journal of Neuroscience, vol.29, p.19710301, 2009. ,
Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells, Journal of Neuroscience, vol.33, p.23719817, 2013. ,
Synaptotagmin I functions as a calcium regulator of release probability, Nature, vol.410, p.11242035, 2001. ,
Time and intensity coding at the hair cell's ribbon synapse, The Journal of Physiology, vol.566, p.15845587, 2005. ,
Alternate splicing of dysferlin C2A confers Ca 2+ -dependent and Ca 2+ -independent binding for membrane repair, Structure, vol.22, p.24239457, 2014. ,
A clamping mechanism involved in SNARE-dependent exocytosis, Science, vol.313, p.16794037, 2006. ,
Transmitter release at the hair cell ribbon synapse, Nature Neuroscience, vol.5, p.11802170, 2002. ,
Time course and calcium dependence of transmitter release at a single ribbon synapse, PNAS, vol.104, p.17911259, 2007. ,
Transmitter release from cochlear hair cells is phase locked to cyclic stimuli of different intensities and frequencies, Journal of Neuroscience, vol.32, p.23175853, 2012. ,
Otoferlin is a multivalent calcium-sensitive scaffold linking SNAREs and calcium channels, PNAS, vol.114, p.28696301, 2017. ,
Calcium dependence of the rate of exocytosis in a synaptic terminal, Nature, vol.371, p.7935764, 1994. ,
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell, Human Molecular Genetics, vol.18, p.19417007, 2009. ,
Breaking the diffraction resolution limit by stimulated emission: stimulated-emissiondepletion fluorescence microscopy, Optics Letters, vol.19, p.19844443, 1994. ,
The calcium sensor synaptotagmin 7 is required for synaptic facilitation, Nature, vol.529, p.26738595, 2016. ,
Disruption of the presynaptic cytomatrix protein bassoon degrades ribbon anchorage, multiquantal release, and sound encoding at the hair cell afferent synapse, Journal of Neuroscience, vol.33, p.23467361, 2013. ,
Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion, The Journal of Cell Biology, vol.191, p.20921140, 2010. ,
Synaptotagmin IV determines the linear Ca2+ dependence of vesicle fusion at auditory ribbon synapses, Nature Neuroscience, vol.13, p.821, 2010. ,
Disruption of adaptor protein 2m (AP-2m) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing, The EMBO Journal, vol.34, p.26446278, 2015. ,
Quantitative analysis of ribbons, vesicles, and cisterns at the cat inner hair cell synapse: correlations with spontaneous rate, Journal of Comparative Neurology, vol.521, p.23787810, 2013. ,
Discharge Patterns of Single Fibers in the Cat's Auditory Nerve, 1965. ,
Computer visualization of three-dimensional image data using IMOD, Journal of Structural Biology, vol.116, p.8742726, 1996. ,
A conformational switch in complexin is required for synaptotagmin to trigger synaptic fusion, Nature Structural & Molecular Biology, vol.18, p.21785412, 2011. ,
Convergence properties of the nelder-mead simplex method in low dimensions, SIAM Journal on Optimization, vol.9, pp.112-147, 1998. ,
Complexin inhibits spontaneous release and synchronizes Ca2+ -triggered synaptic vesicle fusion by distinct mechanisms, vol.3, p.25122624, 2014. ,
STED microscope with spiral phase contrast, Scientific Reports, vol.3, p.23787399, 2013. ,
CD1 hearing-impaired mice. I: Distortion product otoacoustic emission levels, cochlear function and morphology, Hearing Research, vol.120, issue.98, p.9667429, 1998. ,
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair, Journal of Neuroscience, vol.33, p.23516275, 2013. ,
Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair, Traffic, vol.13, p.21838746, 2012. ,
Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins, BMC Evolutionary Biology, vol.10, p.20667140, 2010. ,
Synaptic vesicle populations in saccular hair cells reconstructed by electron tomography, Journal of Neuroscience, vol.19, p.9870944, 1999. ,
Developmental acquisition of a rapid calcium-regulated vesicle supply allows sustained high rates of exocytosis in auditory hair cells, PLoS One, vol.6, p.21998683, 2011. ,
Ca(2+)-dependent and -independent activities of neural and non-neural synaptotagmins, Nature, vol.375, p.7791877, 1995. ,
Phase-locking precision is enhanced by multiquantal release at an auditory hair cell ribbon synapse, Neuron, vol.83, p.25199707, 2014. ,
Opposing gradients of ribbon size and AMPA receptor expression underlie sensitivity differences among cochlear-nerve/hair-cell synapses, Journal of Neuroscience, vol.31, p.21248103, 2011. ,
Dynamic control of synaptic vesicle replenishment and short-term plasticity by Ca(2+)-calmodulinMunc13-1 signaling, Neuron, vol.79, p.23770256, 2013. ,
Synaptotagmin 7 functions as a Ca2+ -sensor for synaptic vesicle replenishment, vol.3, p.24569478, 2014. ,
A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9, Hearing Research, vol.234, p.17967520, 2007. ,
Kinetics of exocytosis and endocytosis at the cochlear inner hair cell afferent synapse of the mouse, PNAS, vol.97, p.10639174, 2000. ,
Hair cell ribbon synapses, Cell and Tissue Research, vol.326, p.16944206, 2006. ,
Probing the mechanism of exocytosis at the hair cell ribbon synapse, Journal of Neuroscience, vol.27, p.18032667, 2007. ,
Modes and regulation of endocytic membrane retrieval in mouse auditory hair cells, The Journal of Neuroscience, vol.34, p.24431429, 2014. ,
Exocytosis at the hair cell ribbon synapse apparently operates without neuronal SNARE proteins, Nature Neuroscience, vol.14, p.21378973, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00619269
Characterization of the lipid binding properties of Otoferlin reveals specific interactions between PI(4,5)P2 and the C2C and C2F domains, Biochemistry, vol.53, p.24999532, 2014. ,
Phase-locking in the cochlear nerve of the guinea-pig and its relation to the receptor potential of inner hair-cells, Hearing Research, vol.24, issue.86, p.3759671, 1986. ,
Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells, Nature Neuroscience, vol.13, p.20562868, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-00548216
Handbook of Biological Confocal Microscopy, 2006. ,
Scalable molecular dynamics with NAMD, Journal of Computational Chemistry, vol.26, p.16222654, 2005. ,
Synaptotagmin I is necessary for compensatory synaptic vesicle endocytosis in vivo, Nature, vol.426, p.14634669, 2003. ,
Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3, Journal of Biological Chemistry, vol.284, p.19004828, 2009. ,
A new probe for super-resolution imaging of membranes elucidates trafficking pathways, The Journal of Cell Biology, vol.205, p.24862576, 2014. ,
Synaptic vesicle pools, Nature Reviews Neuroscience, vol.6, p.15611727, 2005. ,
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse, Cell, vol.127, p.17055430, 2006. ,
URL : https://hal.archives-ouvertes.fr/hal-00111976
The auditory hair cell ribbon synapse: from assembly to function, Annual Review of Neuroscience, vol.35, p.22715884, 2012. ,
SNARE complex at the ribbon synapses of cochlear hair cells: analysis of synaptic vesicle-and synaptic membrane-associated proteins, European Journal of Neuroscience, vol.11, p.10103074, 1999. ,
Tracking vesicle fusion from hair cell ribbon synapses using a high frequency, dual sine wave stimulus paradigm, Communicative & Integrative Biology, vol.4, p.22446556, 2011. ,
Auditory hair cell-afferent fiber synapses are specialized to operate at their best frequencies, Neuron, vol.47, p.16039566, 2005. ,
Calcium-dependent synaptic vesicle trafficking underlies indefatigable release at the hair cell afferent fiber synapse, Neuron, vol.70, p.21521617, 2011. ,
Ca(2+) channels and transmitter release at the active zone, Cell Calcium, vol.52, p.22682961, 2012. ,
Auditory Neuroscience: Making Sense of Sound, 2011. ,
Bipartite Ca2+ -binding motif in C2 domains of synaptotagmin and protein kinase C, Science, vol.273, p.8662510, 1996. ,
Differential but convergent functions of Ca2+ binding to synaptotagmin-1 C2 domains mediate neurotransmitter release, PNAS, vol.106, p.19805322, 2009. ,
Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy, Neurology, vol.66, p.16606933, 2006. ,
A protein assembly-disassembly pathway in vitro that may correspond to sequential steps of synaptic vesicle docking, activation, and fusion, Cell, vol.75, p.8221884, 1993. ,
Evidence that rapid vesicle replenishment of the synaptic ribbon mediates recovery from short-term adaptation at the hair cell afferent synapse, Journal of the Association for Research in Otolaryngology, vol.5, p.15675002, 2004. ,
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants, The EMBO Journal, vol.35, p.27729456, 2016. ,
Complexin-I is required for high-fidelity transmission at the endbulb of Held auditory synapse, Journal of Neuroscience, vol.29, p.19553439, 2009. ,
A dual-Ca2+ -sensor model for neurotransmitter release in a central synapse, Nature, vol.450, p.18046404, 2007. ,
Structure of the first C2 domain of synaptotagmin I: a novel Ca2+ /phospholipid-binding fold, Cell, vol.80, issue.95, p.7697723, 1995. ,
Neurotransmitter release: the last millisecond in the life of a synaptic vesicle, Neuron, vol.80, p.24183019, 2013. ,
Different CaV1.3 channel isoforms control distinct components of the synaptic vesicle cycle in auditory inner hair cells, The Journal of Neuroscience, vol.37, p.28193694, 2017. ,
A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells, vol.4, p.8308, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01312800
Exocytotic machineries of vestibular type I and cochlear ribbon synapses display similar intrinsic otoferlin-dependent Ca2+ sensitivity but a different coupling to Ca2+ channels, Journal of Neuroscience, vol.34, p.25122888, 2014. ,
Unconventional molecular regulation of synaptic vesicle replenishment in cochlear inner hair cells, Journal of Cell Science, vol.128, p.25609709, 2015. ,
Depletion and replenishment of vesicle pools at a ribbon-type synaptic terminal, Journal of Neuroscience, vol.17, p.9045721, 1997. ,
Calcium sensitive ring-like oligomers formed by synaptotagmin, PNAS, vol.111, p.25201968, 2014. ,
Comparative Protein Structure Modeling Using MODELLER, Current Protocols in Bioinformatics, 2014. ,
Developmental refinement of hair cell synapses tightens the coupling of Ca2+ influx to exocytosis, The EMBO Journal, vol.33, p.24442635, 2014. ,
Surgical method for virally mediated gene delivery to the mouse inner ear through the round window membrane, J Vis Exp, 2015. ,
Thermal Excitation of the Mechanotransduction Apparatus of Hair Cells, Neuron. Feb, vol.7, issue.3, pp.586-595, 2018. ,
,
Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells, 2010. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01472847
, J Neurosci, vol.30, pp.13281-90
Calcium dependence of exocytosis and endocytosis at the cochlear inner hair cell afferent synapse, Neuron, vol.29, pp.681-90, 2001. ,
, , 2011.
, Biol Chem. Dec, vol.9, issue.49, pp.42736-42784
Recovery from short-term depression and facilitation is ultrafast and Ca2+ dependent at auditory hair cell synapses, J Neurosci, vol.31, pp.5682-92, 2011. ,
How does synaptotagmin trigger neurotransmitter release?, Annu Rev Biochem, vol.77, pp.615-656, 2008. ,
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, 2015. ,
, Mol Cell Biol, vol.35, pp.1043-54
Fast, Temperature-Sensitive and Clathrin-Independent Endocytosis at Central Synapses, Neuron, vol.90, pp.492-500, 2016. ,
Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses, J Neurosci, vol.29, pp.10474-87, 2009. ,
,
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J Clin Invest, vol.128, pp.3382-3401, 2018. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01858480
Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells, J Neurosci, vol.33, pp.9508-9527, 2013. ,
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G, Proc Natl Acad Sci, vol.114, pp.9695-9700, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01661148
Functional analysis of the interface between the tandem C2 domains of synaptotagmin-1, Mol Biol Cell, vol.27, pp.979-89, 2016. ,
, Structure of human synaptotagmin 1, 2007.
Actin Filaments Regulate Exocytosis at the Hair Cell Ribbon Synapse, J Neurosci, vol.36, issue.3, pp.649-54, 2016. ,
, Journal of Neuroscience, vol.2, p.123, 2019.
Otoferlin is a multivalent calciumsensitive scaffold linking SNAREs and calcium channels, Proc Natl Acad Sci, vol.114, pp.8023-8028, 2017. ,
Cterminal ECFP fusion impairs synaptotagmin 1 function: crowding out synaptotagmin 1, J Biol Chem, vol.280, issue.6, pp.5089-100, 2005. ,
FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins. Sci Rep, vol.8, p.10949, 2018. ,
Disruption of adaptor protein 2? (AP-2?) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing, EMBO J, vol.34, pp.2686-702, 2015. ,
Discharge Patterns of Single Fibers in the Cats Auditory Nerve, Research Monograph, issue.35, 1965. ,
Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair traffic, vol.13, pp.185-94, 2012. ,
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair, J Neurosci, vol.33, pp.5085-94, 2013. ,
Noise-induced and age-related hearing loss: new perspectives and potential therapies, Journal of Neuroscience, vol.6, p.124, 1000. ,
Patch-clamp techniques for time-resolved capacitance measurements in single cells, Pflugers Arch, vol.411, issue.2, pp.137-183, 1988. ,
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice, Mol Ther, vol.25, pp.2150-2162, 2017. ,
Tuning of synapse number, structure and function in the cochlea, Nat Neurosci, vol.4, pp.444-53, 2009. ,
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses. eLife, vol.6, p.31013, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01665122
, , 2016.
Kinetics of exocytosis and endocytosis at the cochlear inner hair cell afferent synapse of the mouse, Proc Natl Acad Sci, vol.97, pp.883-891, 2000. ,
Mechanisms underlying the temporal precision of sound coding at the inner hair cell ribbon synapse, J Physiol, vol.576, pp.55-62, 2006. ,
Modes and regulation of endocytic membrane retrieval in mouse auditory hair cells, J Neurosci, vol.34, issue.3, pp.705-721, 2014. ,
Characterization of the lipid binding properties of Otoferlin reveals specific interactions between PI(4,5)P2 and the C2C and C2F domains, Biochemistry, vol.53, pp.5023-5056, 2014. ,
Phase-locking in the cochlear nerve of the guinea-pig and its relation to the receptor potential of inner hair-cells, Hear Res, vol.24, pp.1-15, 1986. ,
Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells, Nat Neurosci, vol.13, pp.869-76, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-00548216
Synaptotagmin I is necessary for compensatory synaptic vesicle endocytosis in vivo, Nature, vol.426, pp.559-63, 2003. ,
Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3, J Biol Chem, vol.284, pp.1364-72, 2009. ,
Calcium regulates molecular interactions of otoferlin with soluble NSF attachment protein receptor (SNARE) proteins required for hair cell exocytosis, J Biol Chem, vol.28, issue.13, pp.8750-66, 2014. ,
,
, Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair, Mol Biol Cell, vol.25, pp.3037-3085
A new probe for super-resolution imaging of membranes elucidates trafficking pathways, J Cell Biol, vol.205, pp.591-606, 2014. ,
, Otoferlin, defective in a Article, vol.2, p.126, 2006.
, human deafness form, is essential for exocytosis at the auditory ribbon synapse, Cell, vol.127, pp.277-89
SNARE complex at the ribbon synapses of cochlear hair cells: analysis of synaptic vesicle-and synaptic membrane-associated proteins, Eur J Neurosci, vol.11, issue.3, pp.803-815, 1999. ,
Cell-type-specific tuning of Cav1.3 Ca(2+)-channels by a Cterminal automodulatory domain, Front Cell Neurosci, vol.9, p.309, 2015. ,
Dopamine D1A directly interacts with otoferlin synaptic pathway proteins: Ca 2+ and phosphorylation underlie an NSF-to-AP2mu1 molecular switch, Biochem J, vol.474, pp.79-104, 2017. ,
SHIELD: an integrative gene expression database for inner ear research, Database, 2015. ,
Calcium Control of Neurotransmitter Release, Cold Spring Harb Perspect Biol, vol.4, p.11353, 2012. ,
Response properties of single auditory nerve fibers in the mouse, J Neurophysiology, vol.93, pp.557-69, 2005. ,
Exocytotic machineries of vestibular type I and cochlear ribbon synapses display similar intrinsic otoferlin-dependent Ca2+ sensitivity but a different coupling to Ca2+ channels, J Neurosci, vol.34, pp.10853-69, 2014. ,
A Synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells eLife. 4:e10988, Journal of Neuroscience, vol.2, p.127, 2015. ,
, , 2017.
, Different CaV1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells, J Neurosci, vol.37, pp.2960-2975
Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing, EMBO J, vol.1, issue.23, pp.2536-2552, 2016. ,
Dynamics of synaptic vesicle fusion and membrane retrieval in synaptic terminals, Nature, vol.367, pp.735-744, 1994. ,
Inhibition of endocytosis by elevated internal calcium in a synaptic terminal, Nature, vol.370, pp.652-657, 1994. ,
Synaptotagmin-1 C2B domain interacts simultaneously with SNAREs and membranes to promote membrane fusion. Elife, vol.5, p.14211, 2016. ,
Ultrafast endocytosis at Caenorhabditis elegans neuromuscular junctions, 2013. ,
, , vol.2, p.723
Ultrafast endocytosis at mouse hippocampal synapses, Nature, vol.504, pp.242-247, 2013. ,
Clathrin regenerates synaptic vesicles from endosomes, Nature, vol.515, pp.228-261, 2014. ,
Functional properties of a newly identified C-terminal splice variant of Ca(V)1.3 L-type Ca2+ channels, JBC, vol.286, pp.42736-42748, 2011. ,
Ca V 1.3 Channels Are Essential for Development and Presynaptic Activity of Cochlear Inner Hair Cells, J Neurosci, vol.23, pp.10832-10872, 2003. ,
URL : https://hal.archives-ouvertes.fr/inserm-00757396
Few CaV1.3 Channels Regulate the Exocytosis of a Synaptic Vesicle at the Hair Cell Ribbon Synapse, J Neurosci, vol.25, pp.11577-85, 2005. ,
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia, Proc Natl Acad Sci U S A, vol.108, pp.5825-5855, 2011. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01472844
Voltage-gated calcium channels, Cold Spring Harb Perspect Biol, vol.3, p.3947, 2011. ,
Membrane potential and response changes in mammalian cochlear hair cells during intracellular recording, J Neurosci, vol.5, issue.6, pp.1609-1624, 1985. ,
Null Mutation of ?1D Ca2+ Channel Gene Results in Deafness but No Vestibular Defect in Mice, JARO, vol.5, pp.215-226, 2004. ,
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J Clin Invest, vol.128, pp.3382-3401, 2018. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01858480
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G, Proc Natl Acad Sci U S A, vol.114, pp.9695-9700, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01661148
FRET two-hybrid mapping reveals function and location of L-type Ca2+ channel CaM pre-association, Neuron, vol.39, pp.97-107, 2003. ,
Mechanisms contributing to synaptic Ca2+ signals and their heterogeneity in hair cells, Proc Natl Acad Sci, vol.106, pp.4483-4491, 2009. ,
C-terminal alternative splicing of CaV1.3 channels distinctively modulates their dihydropyridine sensitivity, Mol Pharmacol, vol.84, pp.643-53, 2013. ,
Increase in efficiency and reduction in Ca2+ dependence of exocytosis during development of mouse inner hair cells, J Physiol, vol.563, pp.177-91, 2005. ,
Developmental acquisition of a rapid calcium-regulated vesicle supply allows sustained high rates of exocytosis in auditory hair cells, PLoS One, vol.6, p.25714, 2011. ,
Patch-clamp techniques for time-resolved capacitance measurements in single cells, Pflugers Arch, vol.411, issue.2, pp.137-183, 1988. ,
Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin, Nature, vol.463, pp.968-972, 2010. ,
Kinetics of exocytosis and endocytosis at the cochlear inner hair cell afferent synapse of the mouse, Proc Natl Acad Sci, vol.97, pp.883-891, 2000. ,
Voltage Gates Calcium Channels : Key players in sensory coding in the retina and the inner ear, Physiol Rev, vol.98, pp.2063-2096, 2018. ,
Calmodulin is the Ca2+ sensor for Ca2+ -dependent inactivation of L-type calcium channels, Neuron, vol.22, pp.549-58, 1999. ,
Congenital Deafness and Sinoatrial Node Dysfunction in Mice Lacking Class D L-Type Ca2+ Channels, Cell, vol.102, pp.89-97, 2000. ,
Ca2+-induced inhibition of the cardiac Ca2+ channel depends on calmodulin, Proc Natl Acad Sci, vol.96, pp.2435-2443, 1999. ,
Cell-type-specific tuning of Cav1.3 Ca2+-channels by a C-terminal automodulatory domain, Front Cell Neurosci, vol.9, p.309, 2015. ,
Modulation of voltage-and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain, J Biol Chem, vol.283, pp.20733-20744, 2008. ,
Evidence that rapid vesicle replenishment of the synaptic ribbon mediates recovery from short-term adaptation at the hair cell afferent synapse, J Assoc Res Otolaryngol, vol.5, pp.376-390, 2004. ,
L-type Ca2+ channels in heart and brain, Wiley Interdiscip Rev Membr Transp Signal, vol.3, pp.15-38, 2014. ,
Exocytotic machineries of vestibular type I and cochlear ribbon synapses display similar intrinsic otoferlin dependent Ca2+ sensitivity but a different coupling to Ca2+ channels, J Neurosci, vol.34, pp.10853-10869, 2014. ,
, , 2017.
, Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells, J Neurosci, vol.37, pp.2960-2975
,
, Switching of Ca2+-dependent inactivation of Cav1.3 channels by calcium binding proteins of auditory hair cells, J. Neurosci, vol.26, pp.10677-10689
, Conclusion générale
, Le senseur calcique otoferline, ainsi que les canaux calciques Cav1.3 présents à la membrane plasmique sont les deux acteurs clefs de la transmission synaptique des cellules ciliées auditives
, L'expression de mini-Otof chez des souris Otof -/-nous a permis de montrer que la partie C
, C2-EF) est importante dans l'exocytose rapide mais que la forme entière à six domaines C2 reste nécessaire pour une transmission synaptique efficiente
ont été un outil intéressant dans la mise en évidence d'une endocytose ultra-rapide, ayant lieu simultanément avec l'exocytose. Cette voie d'endocytose ultra-rapide (? ~ 10 ms) dynamine-dépendante que nous avons mise en évidence nous permettrait d'expliquer le maintien de l'homéostasie membranaire des synapses des CCI (Fig.18). De plus, nous pensons que l'endocytose ultra-rapide est également dépendante de l'otoferline, suite à l'absence de l'effet de l'inhibiteur de dynamine sur la réponse de capacité membranaire des CCI, moins efficaces dans la transmission synaptique que l'otoferline entière ,
, Les interactions potentielles entre l'otoferline, via les domaines C2-D ou C2-ABDF
Suite à l'expression in vivo des mini-Otof contenant les trois derniers domaines C2 en Cterminal (C2-DEF) dans les CCI, nous avons confirmé l'interaction directe ou indirecte de la partie Cterminale de l'otoferline avec les isoformes courtes Cav1.3S. En effet, la composante rapide de l'inactivation du courant calcique est absente chez les CCI Otof -/-et l'expression de ces mini-Otof a permis de restaurer partiellement cette inactivation rapide, caractéristique des Cav1.3S. Ces derniers, ne possédant pas de partie C-terminale régulatrice, présentent une inactivation rapide, propriété absente chez les Cav1.3L. Par édition génique, nous avons pu distinguer les rôles physiologiques de ces deux isoformes des canaux calciques. Nous montrons que les Cav1.3L sont indispensables à l'audition puisque la suppression par la technique du CRISPR-Cas9 de leur partie C-terminale, entraine une surdité sévère. Cette surdité s'explique au niveau synaptique par l'absence d'un recrutement efficace des vésicules à la ZA des CCI, tandis que l'exocytose rapide est maintenue. Une explication serait que les Cav1.3L, situés au voisinage des ZA et ne présentant pas d'inactivation, seraient alors requis pour une diffusion calcique intracellulaire large et profonde, Cav1.3 ont été établies à partir d'expériences biochimiques in vitro, vol.110, pp.1073-1081, 1997. ,
The tip-link antigen, a protein associated with thetransduction complex of sensory hair cells, is protocadherin-15, J. Neurosci, vol.26, pp.7022-7034, 2006. ,
Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy, Neuron, vol.75, pp.283-293, 2012. ,
A dual AAV viral vector approach partially restores exocytosis and rescues hearing in deaf otoferlin knock-out mice, vol.134, 2018. ,
Two distinct populations of calcium channels in a clonal line of pituitary cells, Science, vol.227, pp.65-72, 1985. ,
M. Structural basis of PAM dependent target DNA recognition by the Cas9 endonuclease, Nature, vol.513, pp.569-573, 2014. ,
Dysferlin is a plasma membrane protein and is expressed early in human development, Hum Mol Genet, vol.8, pp.871-878, 1999. ,
The Rab8 GTPase selectively regulates AP-1B-dependent basolateral transport in polarized Madin-Darby canine kidney cells, J. Cell Biol, vol.163, pp.339-350, 2003. ,
Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy, Neuron, vol.75, pp.283-293, 2012. ,
Membrane fission by dynamin: what we know and what we need to know, EMBO J, vol.35, pp.2270-2284, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01597491
Acute and chronic effects of aminoglycosides on cochlear hair cells, Ann N Y Acad Sci, vol.884, pp.60-68, 1999. ,
Synaptic hyperpolarization and inhibition of turtle cochlear hair cells, J Physiol, vol.356, pp.525-550, 1984. ,
Transgenic Tmc2 expression preserves inner ear hair cells and vestibular function in mice lacking Tmc1, Sci Rep, vol.8, p.12124, 2018. ,
Tmc gene therapy restores auditory function in deaf mice, SciTransl Med, vol.7, pp.295-108, 2015. ,
Adenovirus-associated defective virus particles, Science, vol.149, pp.754-760, 1965. ,
PIP2 increases the speed of response of synaptotagmin and steers its membrane-penetration activity toward the plasma membrane, Nat Struct Mol Biol, vol.11, pp.36-44, 2004. ,
, Vivo CRISPR/Cas9 Gene Editing Corrects, 2016.
, Rat Model of Autosomal Dominant Retinitis Pigmentosa, Mol Ther, vol.24, pp.556-63
N-Ethylmaleimide-sensitive factor acts at aprefusion ATP-dependent step in Ca2+-activated exocytosis, J. Biol. Chem, vol.271, pp.20223-20249, 1996. ,
Defective membrane repair in dysferlin-deficient muscular dystrophy, Nature, vol.423, pp.168-72, 2003. ,
Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet, J Neuromuscul Dis, vol.5, pp.21-28, 2018. ,
The organization and physiology of the auditory thalamus and its role in processing acoustic features important for speech perception, Brain Lang, vol.126, pp.29-48, 2013. ,
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B, Nat Genet, vol.20, pp.37-42, 1998. ,
The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function, Cell Tissue Res, vol.357, pp.463-76, 2014. ,
Calcium Dependence of Exocytosis and Endocytosis at the Cochlear Inner Hair, Cell Afferent Synapse Neuron, vol.29, pp.681-90, 2001. ,
Calcium-and OtoferlinDependent Exocytosis by Immature Outer Hair Cells, J Neurosci, vol.28, pp.1798-803, 2008. ,
Localization of inner hair cell mechanotransducer channels using high-speed calcium imaging, Nat. Neurosci, vol.12, pp.553-558, 2009. ,
Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells, J. Neurosci, vol.30, pp.13281-13290, 2010. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01472847
Variable number of TMC1-dependent mechanotransducer channels underlie tonotopic conductance gradients in the cochlea, Nat Commun, vol.9, p.2185, 2018. ,
Dynamic switching of calmodulin interactions underlies Ca2+ regulation of CaV1.3 channels, Nat Commun, vol.4, p.1717, 2013. ,
Calmodulin regulation (calmodulation) of voltage-gated calcium channels, J Gen Physiol, vol.157, pp.1657-70, 2014. ,
The V-type H+ ATPase: molecular structure and function, physiological roles and regulation, J Exp Biol, vol.209, pp.577-589, 2006. ,
Acetylcholine-Induced Potassium Outer Hair Cells : Its Dependence Receptors Current of Guinea Pig on a Calcium Influx through nicotinic-like receptors, J Neurosci, vol.16, pp.2574-2584, 1996. ,
Functional properties of a newly identified C-terminal splice variant of Ca(V)1.3 L-type Ca2+ channels, The Journal of Biological Chemistry, vol.286, pp.42736-42748, 2011. ,
,
, A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice, PLoS Genet
CaV1.3 Channels Are Essential for Development and Presynaptic Activity of Cochlear Inner Hair Cells, J Neurosci, vol.23, pp.10832-10872, 2003. ,
URL : https://hal.archives-ouvertes.fr/inserm-00757396
Few CaV1.3 Channels Regulate the Exocytosis of a Synaptic Vesicle at the Hair Cell Ribbon Synapse, J Neurosci, vol.25, pp.11577-85, 2005. ,
Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution, Nat Struct Mol Biol, vol.22, pp.555-64, 2015. ,
Feathers and fins: Non-mammalian models for hair cell regeneration, Brain Res, vol.1277, pp.12-23, 2009. ,
Antidromic responses of single units from the spiral ganglion, J Neurophysiol, vol.71, pp.1835-1882, 1994. ,
Calcium-dependent inactivation of neuronal calcium channels, Nat Rev Neurosci, vol.3, pp.873-83, 2002. ,
Differential Effects of AAV.BDNF and AAV.Ntf3 in the Deafened Adult Guinea Pig Ear, Sci Rep, vol.5, p.8619, 2015. ,
Neural circuit development in the mammalian cochlea, Physiology (Bethesda), vol.27, pp.100-112, 2012. ,
Association of intracellular and synaptic organization in cochlear inner hair cells revealed by 3D electron microscopy, J Cell Sci, vol.128, pp.2529-2569, 2015. ,
Recent developments in adenoassociated virus vector technology, J Gene Med, vol.10, pp.717-750, 2008. ,
Enzymatic digestion of synaptic ribbons in amphibian retinal photoreceptors, Brain Res, vol.25, pp.571-577, 1971. ,
First-in-man phase1 clinical trial of gene therapy for advanced pancreatic cancer: Safety, biodistribution, and preliminary clinical findings, Mol Ther, vol.23, pp.779-789, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01926961
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia, Proc Natl Acad Sci U S A, vol.108, pp.5825-5855, 2011. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01472844
Worldwide epidemiology of neutralizing antibodies to adeno-associated viruses, J. Infect. Dis, vol.199, pp.381-90, 2009. ,
Molecular imaging of retinal disease, J. Ocul. Pharmacol. Ther, vol.29, pp.275-286, 2013. ,
Adeno-associated viral vectors as gene delivery vehicles, Int J Mol Med, vol.6, pp.17-27, 2000. ,
International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels, Pharmacol Rev, vol.57, pp.411-436, 2005. ,
Voltage-gated calcium channels, Cold Spring Harb Perspect Biol, vol.3, p.3947, 2011. ,
Vesicle sub-pool organization at inner hair cell ribbon synapses, EMBO Rep, p.44937, 2018. ,
Expressing Transgenes That Exceed the Packaging Capacity of Adeno-Associated Virus Capsids, 2016. ,
How does synaptotagmin trigger neurotransmitter release?, Annual Review of Biochemistry, vol.77, pp.615-641, 2008. ,
Uniquantal release through a dynamic fusion pore is a candidate mechanism of hair cell exocytosis, Neuron, vol.83, pp.1389-403, 2014. ,
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, Stem Cell Res Ther, vol.9, p.230, 2015. ,
Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice, Mol Ther, vol.24, pp.17-25, 2015. ,
Recovery from short-term depression and facilitation is ultrafast and Ca2+ dependent at auditory hair cell synapses, J neurosci, vol.31, pp.5682-92, 2011. ,
Proton-mediated block of Ca2+ channels during multivesicular release regulates short-term plasticity at an auditory hair cell synapse, J Neurosci, vol.34, pp.15877-15887, 2014. ,
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan, Clin Genet, vol.75, pp.237-280, 2009. ,
CRISPR challenges in treating retinal disease, Asia Pac J Ophthalmol, vol.5, pp.304-312, 2016. ,
Actin in action: the interplay between the actin cytoskeleton and synaptic efficacy, Nat Rev Neurosci, vol.9, pp.344-356, 2008. ,
Spontaneous hair cell regeneration in the neonatal mouse cochlea in vivo, Development, vol.141, pp.816-829, 2014. ,
Ca2+-binding proteins tune Ca2+-feedback to Cav1.3 channels in mouse auditory hair cells, J Physiol, vol.585, pp.791-803, 2007. ,
Purification of the calcium antagonist receptor of the voltagesensitive calcium channel from skeletal muscle transverse tubules, Biochemistry, vol.23, pp.2113-2121, 1984. ,
Reconstitution of the voltage-sensitive calcium channel purified from skeletal muscle transverse tubules, Biochemistry, vol.25, pp.3077-83, 1986. ,
CRISPR gene-editing tested in a person for the first time, Nature, vol.539, issue.7630, p.479, 2016. ,
Cochlear afferent innervation development, Hear Res, vol.330, pp.157-69, 2015. ,
Exocytosed protons feedback to suppress the Ca2+ current in mammalian cone photoreceptors, Neuron, vol.32, pp.1107-1117, 2001. ,
, Dallos P (1992) The active cochlea, J Neurosci, vol.12, pp.4575-4585
Prestin-based outer hair cell motility is necessary for mammalian cochlear amplification, Neuron, vol.58, pp.333-342, 2008. ,
Myoferlin, a candidate gene and potential modifier of muscular dystrophy, Hum Mol Genet, vol.9, pp.217-243, 2000. ,
, , 2009.
, Synaptotagmin-1 docks secretory vesicles to syntaxin-1/SNAP-25 acceptor complexes, vol.138, pp.935-981
,
, Normal myoblast fusion requires myoferlin, Development, vol.132, pp.5565-75
Dysferlin as a correlate of cochlear membrane fusion and repair, 2016. ,
Circular intermediates of recombinant adeno-associated virus have defined structural characteristics responsible for long-term episomal persistence in muscle tissue, J Virol, vol.72, pp.8568-77, 1998. ,
Expression of small-conductance calcium-activated potassium channels (SK) in outer hair cells of the rat cochlea, Eur J Neurosci, vol.10, pp.907-922, 1998. ,
Otoferlin Is Critical for a Highly Sensitive and Linear Calcium-Dependent Exocytosis at Vestibular Hair Cell Ribbon Synapses, J Neurosci, vol.29, pp.10474-10487, 2009. ,
, , pp.39238-39244
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J Clin Invest, vol.128, pp.3382-3401, 2018. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01858480
Otoferlin Couples to Clathrin-Mediated Endocytosis in Mature Cochlear Inner Hair Cells, J Neurosci, vol.33, pp.9508-9527, 2013. ,
Evidence that fast exocytosis can be predominantly mediated by vesicles not docked at active zones in frog saccular hair cells, J Physiol, vol.560, pp.439-50, 2004. ,
The Calcineurin-Binding, Activity-Dependent Splice Variant Dynamin1xb Is Highly Enriched in Synapses in Various Regions of the Central Nervous System, Front Mol Neurosci, vol.10, p.230, 2017. ,
Alpha 9: an acetylcholine receptor with novel pharmacological properties expressed in rat cochlear hair cells, Cell, vol.79, pp.705-715, 1994. ,
Restauration, par thérapie génique, de l'audition et de l'équilibre chez des souris modèles de surdités et troubles vestibulaires humains, 2016. ,
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G, Proc Natl Acad Sci U S A, vol.114, pp.9695-9700, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01661148
FRET two-hybrid mapping reveals function and location of L-type Ca2+ channel CaM preassociation, Neuron, vol.39, pp.97-107, 2003. ,
Functional analysis of the interface between the tandem C2 domains of synaptotagmin-1, Mol Biol Cell, vol.27, pp.979-89, 2016. ,
Neurotransmitters and neuromodulators of the mammalian cochlea, Physiol rev, vol.73, pp.309-73, 1993. ,
Three-dimensional structure of the synaptotagmin 1 C2B-domain: Synaptotagmin 1 as a phospholipid binding machine, Neuron, vol.32, pp.1057-1069, 2001. ,
Synaptotagmin I functions as a calcium regulator of release probability, Nature, vol.410, pp.41-49, 2001. ,
Neurotransmitter release: fusion or 'kiss-and-run' ?, Trends Cell Biol, vol.4, pp.1-4, 1994. ,
The sensory and motor roles of auditory hair cells, Nat Rev Neurosci, vol.7, pp.19-28, 2006. ,
The physiology of mechanoelectrical transduction channels in hearing, Physiol. Rev, vol.94, pp.951-986, 2014. ,
Is TMC1 the hair cell mechanotransducer channel ?, Biophys. J, vol.111, pp.3-9, 2016. ,
Hair Cell Transduction, Tuning, and Synaptic Transmission in the Mammalian Cochlea, Compr Physiol, vol.7, pp.1197-1227, 2017. ,
Signaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous system, Annu Rev Neurosci, vol.31, pp.563-90, 2008. ,
A non-canonical pathway from cochlea to brain signals tissue-damaging noise, Curr Biol, vol.25, pp.606-612, 2015. ,
Efficient quantification of afferent cochlear ultrastructure using design-based stereology, J Neurosci Methods, vol.20, pp.150-158, 2006. ,
Concise Review: Regeneration in Mammalian Cochlea Hair Cells: Help from supporting cells transdifferentiation, Stem Cells, vol.35, pp.551-556, 2017. ,
Bassoon and the synaptic ribbon organize Ca²+ channels and vesicles to add release sites and promote refilling, Neuron, vol.68, pp.724-762, 2010. ,
Cholinergic inhibition of short (outer) hair cells of the chick's cochlea, J Neurosci, vol.12, pp.800-809, 1992. ,
Synaptic transmission at vertebrate hair cells, Curr Opin Neurobiol, vol.6, pp.514-519, 1996. ,
Time and intensity coding at the hair cell's ribb on synapse, J Physiol, vol.566, pp.7-12, 2005. ,
Structure of human synaptotagmin 1 C2AB in the absence of Ca2+ reveals a novel domain association, Biochemistry, vol.46, pp.13041-13049, 2007. ,
Role of the thalamus in auditory lateralization: anatomic studies, Rev Neurol, vol.142, pp.441-445, 1986. ,
Suppression of auditory nerve activity by stimulation of efferent fibers to cochlea, J Neurophysiol, vol.19, pp.424-461, 1956. ,
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents, Nature, vol.553, pp.217-221, 2018. ,
Sound strategies for hearing restoration, Science, vol.344, p.1241062, 2014. ,
Synaptotagmin I: A major Ca2+ sensor for transmitter release at a central synapse, Cell, vol.79, pp.717-727, 1994. ,
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery, Hum Mol Genet, vol.27, pp.761-779, 2018. ,
Cholinergic Synaptic Inhibition of Inner Hair Cells in the Neonatal Mammalian Cochlea. Science (80?), vol.288, pp.2366-2368, 2000. ,
Transmitter release at the hair cell ribbon synapse, Nat Neurosci, vol.5, pp.147-54, 2002. ,
Adeno-associated virus: from defective virus to effective vector, Virol J, vol.79, pp.3146-62, 2005. ,
Transmitter release from cochlear hair cells is phase locked to cyclic stimuli of different intensities and frequencies, J Neurosci, vol.32, pp.17025-17060, 2012. ,
Time course and calcium dependence of transmitter release at a single ribbon synapse, Proc Natl Acad Sci, vol.104, pp.16341-16347, 2007. ,
Two Modes of Release Shape the Postsynaptic Response at the Inner Hair Cell Ribbon, Synapse J Neurosci, vol.30, pp.4210-4230, 2010. ,
On undersanting the organisation of the retinal receptor synapses, Brain Res, vol.10, pp.1-15, 1971. ,
Sharp Ca(2)(+) nanodomains beneath the ribbon promote highly synchronous multivesicular release at hair cell synapses, J Neurosci, vol.31, pp.16637-16650, 2011. ,
Actin Filaments Regulate Exocytosis at the Hair Cell Ribbon Synapse, J Neurosci, vol.36, pp.649-54, 2016. ,
,
, Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV, Mol Ther, vol.25, pp.379-391
Otoferlin is a multivalent calcium-sensitive scaffold linking SNAREs and calcium channels, Proc Natl Acad Sci, vol.114, pp.8023-8028, 2017. ,
FerA is a MembraneAssociating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion, Proteins. Sci Rep, vol.8, p.10949, 2018. ,
Cell-and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons, Proc Natl Acad Sci, vol.105, pp.2175-80, 2008. ,
, , 2008.
, Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form, Hum Mol Genet, vol.17, pp.3814-3835
The crystal structure of the C2A domain of otoferlin reveals an unconventional top loop region, J MolBiol, vol.406, pp.479-490, 2011. ,
Rab8 regulates basolateral secretory, butnot recycling, traffic at the recycling endosome, Mol. Biol. Cell, vol.19, pp.2059-2068, 2008. ,
Evidence for recycling of synaptic vesicle membrane during transmitter release at the frog neuromuscular junction, J. Cell Biol, vol.57, pp.315-344, 1973. ,
Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding, Nature, vol.374, pp.190-192, 1995. ,
Bulk membrane retrieval in the synaptic terminal of retinal bipolar cells, J Neurosci, vol.57, pp.323-359, 2003. ,
Diversity, Activity, and Evolution of CRISPR Loci in Streptococcus thermophilus, J. Bacteriol, vol.190, pp.1401-1412, 2008. ,
C-terminal alternative splicing of CaV1.3 channels distinctively modulates their dihydropyridine sensitivity, Mol Pharmacol, vol.84, pp.643-53, 2013. ,
Identification of a nonneuronal isoform of synaptotagmin, Proc Natl AcadSci U S A, vol.92, pp.5895-5899, 1995. ,
Mechanisms of aminoglycoside ototoxicity and targets of hair cell protection, Int J Otolaryngol, vol.2011, p.937861, 2011. ,
The calcium sensor synaptotagmin 7 is required for synaptic facilitation, vol.529, pp.88-91, 2016. ,
Cochlear gene delivery through an intact round window membrane in mouse, Hum Gene Ther, vol.12, pp.539-587, 2001. ,
In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains, J Neurol Sci, vol.260, pp.114-137, 2007. ,
A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity, Science, vol.337, pp.816-837, 2012. ,
Disruption of the Presynaptic cytomatrix protein Bassoon degrades ribbon anchorage, multiquantal release, and sound encoding at the hair cell afferent synapse, J Neurosci, vol.33, pp.4456-67, 2013. ,
Increase in efficiency and reduction in Ca2+ dependence of exocytosis during development of mouse inner hair cells, J Physiol, vol.563, pp.177-91, 2005. ,
Otoferlin is a calcium sensor that directly regulates SNAREmediated membrane fusion, J Cell Biol, vol.191, pp.187-97, 2010. ,
Emerging Functional Differences Between the Synaptotagmin and Ferlin Calcium Sensor Families, Biochemistry, vol.56, pp.6413-6417, 2017. ,
Les débuts de CRISPR en thérapie génique, Med Sci, vol.32, pp.1035-1042, 2016. ,
Disruption of adaptor protein 2l (AP-2l) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing, EMBO L, vol.34, pp.2686-702, 2015. ,
The functional and structural outcome of inner ear gene transfer via the vestibular and cochlear fluids in mice, Mol Ther, vol.4, pp.575-85, 2001. ,
Mechanotransduction in mouse inner ear hair cells requires transmembranechannel-like genes, J. Clin. Invest, vol.121, pp.4796-4809, 2011. ,
Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation, Pflugers Arch, vol.467, pp.85-94, 2015. ,
,
, Cadherin 23 and protocadherin 15 interact to formtip-link filaments in sensory hair cells, Nature, vol.449, pp.87-91
Stimulated acoustic emissions from within the human auditory system, J Acoust Soc Am, vol.64, pp.1386-91, 1978. ,
Hair cell synaptic ribbons are essential for synchronous auditory signalling, Nature, vol.434, pp.889-94, 2005. ,
Discharge patterns of single fibers in the cat's auditory nerve, 1965. ,
Increasing the genometargeting scope and precision of base editing with engineered Cas9-cytidine deaminase fusions, Nat Biotechnol, vol.35, pp.371-376, 2017. ,
, Genetics of Hearing Loss -Syndromic Otolaryngol Clin North Am, vol.48, issue.6, pp.1041-1061, 2015.
Predominance of the alpha1D subunit in L-type voltage-gated Ca2+ channels of hair cells in the chicken's cochlea, Proc Natl Acad Sci U S A, vol.94, pp.14883-14891, 1997. ,
Programmable editing of a target base in genomic DNA without double stranded DNA cleavage, Nature, vol.533, pp.420-424, 2016. ,
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy, Sci Transl Med, vol.2, pp.50-69, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-01610037
Usher syndrome: molecular links of pathogenesis, proteins and pathways, Hum Mol Genet, vol.15, issue.2, pp.262-270, 2006. ,
Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors, Nat Biotechnol, vol.23, pp.1435-1444, 2005. ,
Green fluorescent protein as a reporter for gene transfer studies in the cochlea, Hear Res, vol.114, pp.139-186, 1997. ,
A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear, Nat Biotechnol, vol.35, pp.280-284, 2017. ,
Potential of Gene and Cell Therapy for Inner Ear Hair Cells, Biomed Res Int, p.8137614, 2018. ,
Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins, BMC Evol Biol, vol.10, p.231, 2010. ,
Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair, Traffic, vol.13, pp.185-94, 2012. ,
Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels underpin Calcium-Dependent Muscle Membrane Repair, J Neurosci, vol.33, pp.5085-94, 2013. ,
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness, Nat Med, vol.19, pp.345-50, 2013. ,
Developmental acquisition of a rapid calcium-regulated vesicle supply allows sustained high rates of exocytosis in auditory hair cells, PLoS One, vol.6, p.25714, 2011. ,
Structure suggests function: the case for synaptic ribbons as exocytotic nanomachines, Bioessays, vol.23, pp.831-871, 2001. ,
Generation of haircells by stepwise differentiation of embryonic stem cells, Proc. Natl. Acad. Sci. U.S.A, vol.100, pp.13495-13500, 2003. ,
Phosphatidylinositol phosphates as co-activators of Ca2+ binding to C2 domains of synaptotagmin 1, J Biol Chem, vol.281, pp.15845-52, 2006. ,
,
, Allele-specific CRISPR/Cas9 genome editing of the singlebase P23H mutation for rhodopsin associated dominant retinitis pigmentosa, CRISPR J
Single-neuron labeling in the cat auditory nerve, Science, vol.216, pp.1239-1241, 1982. ,
Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier, Nature, vol.419, pp.300-304, 2002. ,
Opposing gradients of ribbon size and AMPA receptor expression underlie sensitivity differences among cochlear-nerve/hair-cell synapses, J Neurosci, vol.31, pp.801-809, 2011. ,
Noise-induced and age-related hearing loss: new perspectives and potential therapies, vol.6, p.927, 1000. ,
Dynamic Control of Synaptic Vesicle Replenishment and Short-Term Plasticity by Ca2+-Calmodulin-Munc13-1 Signaling, Neuron, vol.79, pp.82-96, 2013. ,
Mutational analysis of Drosophila synaptotagmin demonstrates its essential role in Ca(2+)-activated neurotransmitter release, Cell, vol.74, pp.1125-1134, 1993. ,
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy, Nat Genet, vol.20, pp.31-37, 1998. ,
Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin, Nature, vol.463, pp.968-972, 2010. ,
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice, Mol Ther, vol.25, pp.2150-2162, 2017. ,
Efficient recovery of dysferlin deficiency by dual adeno-associated vectormediated gene transfer, Hum Mol Genet, vol.19, pp.1897-907, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-01610036
Calcium channelopathies: the current challenges, Med Sci, vol.22, pp.1028-1031, 2006. ,
Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2, Proc. Natl. Acad. Sci.USA, vol.111, pp.12907-12912, 2014. ,
Proliferative generation of mammalian auditory hair cells in culture, Mech Dev, vol.112, pp.79-88, 2002. ,
Cochlear mechanisms from a phylogenetic viewpoint, Proc. Natl.Acad. Sci. USA 97, pp.11736-11743, 2000. ,
GTPase activity of dynamin and resulting conformation change are essential for endocytosis, Nature, vol.410, pp.231-236, 2001. ,
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!, Biochem Biophys Res Commun, vol.394, pp.737-779, 2010. ,
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities, Biochim Biophys Acta, vol.1852, pp.406-426, 2015. ,
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy, Clin Genet, vol.82, pp.425-457, 2012. ,
The diverse roles of ribbon synapses in sensory neurotransmission, Nat Rev Neurosci, vol.11, pp.812-834, 2010. ,
Sec18p (NSF)-driven release of Sec17p (?-SNAP) can precededocking and fusion of yeast vacuoles, Cell, vol.85, pp.83-94, 1996. ,
Molecular mechanism and physiological functions of clathrinmediated endocytosis, Nat Rev Mol Cell Biol, vol.12, pp.517-533, 2011. ,
An emergency response team for membrane repair, Nat Rev Mol Cell Biol, vol.6, pp.499-505, 2005. ,
Tuning of synapse number, structure and function in the cochlea, Nat Neurosci, vol.12, pp.444-453, 2009. ,
Structure and function of cochlear afferent innervation, Curr Opin Otolaryngol Head Neck Surg, vol.18, pp.441-447, 2010. ,
Thérapie génique des surdités humaines, Med Sci, vol.29, pp.883-892, 2013. ,
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses, vol.6, p.31013, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01665122
Endocytosis of synaptic vesicle membrane at the frog neuromuscular junction, J Cell Biol, vol.98, pp.685-98, 1984. ,
,
, Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing Restoration, Front Mol Neurosci, vol.10, p.236
Synaptotagmin interaction with SNAP-25 governs vesicle docking, priming, and fusion triggering, J Neurosci, vol.33, pp.14417-14447, 2013. ,
, , p.2, 2016.
Biological significance of a family of regularly spaced repeats in the genomes of Archaea, Bacteria and mitochondria, Mol Microbiol, vol.36, pp.244-246, 2000. ,
Intervening Sequences of Regularly Spaced Prokaryotic Repeats Derive from Foreign Genetic Elements, J. Mol. Evol, vol.60, pp.174-182, 2005. ,
Kinetics of exocytosis and endocytosis at the cochlear inner hair cell afferent synapse of the mouse, Proc Natl Acad Sci, vol.97, pp.883-891, 2000. ,
Modes and regulation of endocytic membrane retrieval in mouse auditory hair cells, J Neurosci, vol.34, pp.705-721, 2014. ,
Usefulness and limitations of linear approximations to the understanding of Ca2+ signals, Cell Calcium, vol.24, pp.345-357, 1998. ,
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy, Science, vol.351, pp.403-410, 2016. ,
Extensive supporting cell proliferation and mitotic hair cell generation by in vivo genetic reprogramming in the neonatal mouse cochlea, J Neurosci, vol.36, pp.8734-8745, 2016. ,
Exocytosis at the hair cell ribbon synapse apparently operates without neuronal SNARE proteins, Nat Neurosci, vol.14, pp.411-414, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00619269
Vesicular glutamate transporter 3 is required for synaptic transmission in zebrafish hair cells, J Neurosci, vol.28, pp.2110-2118, 2008. ,
Mechano-electrical transduction currents in isolatedvestibular hair cells of the chick, J. Physiol, vol.359, pp.189-217, 1985. ,
Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein. Science, vol.292, pp.2340-2343, 2001. ,
Differential distribution of stem cells in theauditory and vestibular organs of the innerear, J Assoc Res Otolaryngol, vol.8, pp.18-31, 2007. ,
Synaptic cleft acidification and modulation of short-term depression by exocytosed protons in retinal bipolar cells, J Neurosci, vol.23, pp.11332-11341, 2003. ,
TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear, Neuron, vol.79, pp.504-515, 2013. ,
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c, Nat Biotechnol, vol.35, pp.264-272, 2017. ,
Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells, Nat Neurosci, vol.13, pp.869-76, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-00548216
Otoferlin: a multi-C2 domain protein essential for hearing, Trends Neurosci, vol.35, pp.671-80, 2012. ,
Characterization of the Lipid Binding Properties of Otoferlin Reveals Specific Interactions between PI(4,5)P2 and the C2C and C2F Domains, Biochemistry, vol.53, pp.5023-5056, 2014. ,
Synaptic ribbon. Conveyor belt or safety belt, Neuron, vol.37, pp.379-382, 2003. ,
Calmodulin is the Ca2+ sensor for Ca2+ -dependent inactivation of L-type calcium channels, Neuron, vol.22, pp.549-58, 1999. ,
Cross-links between stereocilia in the guinea pig organ of Corti, and their possible relation to sensory transduction, Hear res, vol.15, pp.103-115, 1984. ,
Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling, Cell Signal, vol.33, pp.30-40, 2017. ,
Brain-derived neurotrophic factor and neurotrophin 3 mRNAs in the peripheral target fields of developing inner ear ganglia, Proc. Natl. Acad. Sci. U. S. A, vol.89, pp.9915-9934, 1992. ,
CRISPR-Cas9 Knockin Mice for Genome Editing and Cancer Modeling, Cell, vol.159, pp.440-55, 2014. ,
Congenital Deafness and Sinoatrial Node Dysfunction in Mice Lacking Class D L-Type Ca2+ Channels, Cell, vol.102, pp.89-97, 2000. ,
Synaptotagmin I is necessary for compensatory synaptic vesicle endocytosis in vivo, Nature, vol.426, pp.559-63, 2003. ,
Ca2+-induced inhibition of the cardiac Ca2+ channel depends on calmodulin, Proc Natl Acad Sci, vol.96, pp.2435-2443, 1999. ,
Pharmacological dissection of multiple types of Ca2+ channel currents in rat cerebellar granule neurons, J Neurosci, vol.15, pp.2995-3012, 1995. ,
Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3, J Biol Chem, vol.284, pp.1364-72, 2009. ,
Calcium Regulates Molecular Interactions of Otoferlin with Soluble NSF Attachment Protein Receptor (SNARE) Proteins Required for Hair Cell Exocytosis, J Biol Chem, vol.289, pp.8750-66, 2014. ,
In vivo genome editing using Staphylococcus aureus Cas9, Nature, vol.520, pp.186-191, 2015. ,
Human cochlea: anatomical characteristics and their relevance for cochlear implantation, Anat Rec, vol.295, pp.1791-811, 2012. ,
Efficient trans-splicing in the retina expands the utility of adeno-associated virus as a vector for gene therapy, Hum Gene Ther, vol.14, pp.37-44, 2003. ,
Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome, vol.572, pp.349-53, 2006. ,
Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair, Mol Biol Cell, vol.25, pp.3037-3085, 2014. ,
Ferlins Show TissueFerlins show tissue-specific expression ans segregate as plasma membrane/late endosomal or transGolgi recycling ferlins, Traffic, vol.17, pp.245-66, 2015. ,
Probing the functional equivalence of otoferlin and synaptotagmin 1 in exocytosis, J. Neurosci, vol.31, pp.4886-4895, 2011. ,
A new probe for super-resolution imaging of membranes elucidates trafficking pathways, J Cell Biol, vol.205, pp.591-606, 2014. ,
Drug delivery to the inner ear: strategies and their therapeutic implications for sensorineural hearing loss, Curr. Drug Deliv, vol.9, pp.231-242, 2012. ,
Colocalization of ion channels involved in frequency selectivity and synaptic transmission at presynaptic active zones of hair cells, J. Neurosci, vol.10, pp.3664-3684, 1990. ,
The continuing search for outer hair cell afferents in the guinea pig spiral ganglion, Hear Res, vol.136, pp.151-158, 1999. ,
Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse, cell, vol.127, pp.277-89, 2006. ,
URL : https://hal.archives-ouvertes.fr/hal-00111976
The ubiquitous nature of multivesicular release, Trends Neurosci, vol.38, pp.428-466, 2015. ,
Physiology, pharmacology and plasticity at the inner hair cell synaptic complex, Hear Res, vol.227, pp.19-27, 2007. ,
URL : https://hal.archives-ouvertes.fr/inserm-00168124
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice, Am J Hum Genet, vol.83, pp.278-92, 2008. ,
URL : https://hal.archives-ouvertes.fr/inserm-00349467
Gene transfer in inner ear cells: a challenging race, Gene Ther, vol.20, pp.237-284, 2013. ,
SNARE complex at the ribbon synapses of cochlear hair cells: analysis of synaptic vesicle-and synaptic membrane-associated proteins, Eur J Neurosci, vol.11, pp.803-815, 1999. ,
The auditory hair cell ribbon synapse: from assembly to function, Annu Rev Neurosci, vol.35, pp.509-528, 2012. ,
CRISPR-Cas systems for editing, regulating and targeting genomes, J Control Release, vol.219, pp.237-247, 2014. ,
Cell-type-specific tuning of Cav1.3 Ca2+-channels by a C-terminal automodulatory domain Front Cell Neurosci, vol.9, p.309, 2015. ,
Gene Expression by Mouse Inner Ear Hair cells during Development, J Neurosci, vol.35, pp.6366-80, 2015. ,
RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function, Neuron, vol.28, pp.857-72, 2000. ,
Calcium-dependent synaptic vesicle trafficking underlies indefatigable release at the hair cell afferent fiber synapse, Neuron, vol.70, pp.326-364, 2011. ,
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat, Eur J Neurosci, vol.24, pp.3372-80, 2006. ,
Review series: The cell biology of hearing, J Cell Biol, vol.190, pp.9-20, 2010. ,
Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3, Neuron, vol.57, pp.263-275, 2008. ,
Solution structures of the Ca2+-free and Ca2+-bound C2A domain of synaptotagmin I: does Ca2+ induce a conformational change, Biochemistry, vol.37, pp.16106-16121, 1998. ,
Alternative splicing of the Cav1.3 channel IQ domain, a molecular switch for Ca2+-dependent inactivation within auditory hair cells, J. Neurosci, vol.26, pp.10690-10699, 2006. ,
RNA Interference Prevents Autosomal-Dominant Hearing Loss, Am J Hum Genet, vol.98, pp.1101-1113, 2016. ,
Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules, Cell, vol.59, pp.421-453, 1989. ,
Synaptic and Golgi membrane recycling in cochlear hair cells, J Neurocytol, vol.15, pp.311-328, 1986. ,
Characteristics and taxonomy of Parvoviridae, Intervirology, vol.23, pp.61-73, 1985. ,
Neuronal voltage-gated calcium channels: structure, function, and dysfunction, Neuron, vol.82, pp.24-45, 2014. ,
Modulation of voltage-and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain, J Biol Chem, vol.283, pp.20733-20744, 2008. ,
Rationally engineered Cas9 nucleases with improved specificity, Science, vol.351, pp.84-92, 2016. ,
Synaptic vesicle endocytosis: fast and slow modes of membrane retrieval, Trends Neurosci, vol.31, pp.559-68, 2008. ,
Acute destruction of the synaptic ribbon reveals a role for the ribbon in vesicle priming, Nat Neurosci, vol.14, pp.1135-1176, 2011. ,
SNAP receptors implicated in vesicle targeting and fusion, Nature, vol.362, pp.318-342, 1993. ,
,
, Synaptic Vesicle Endocytosis Occurs on Multiple Timescales and Is Mediated by ForminDependent Actin Assembly, Neuron, vol.93, pp.854-66
Evidence that rapid vesicle replenishment of the synaptic ribbon mediates recovery from short-term adaptation at the hair cell afferent synapse, J Assoc Res Otolaryngol, vol.5, pp.376-390, 2004. ,
Neurons sensitive to interaural phase disparity in gerbil superior olive: diverse monaural and temporal response properties, J Neurophysiol, vol.73, pp.1668-90, 1995. ,
Nucleotide sequence and organization of the adenoassociated virus 2 genome, J Virol, vol.45, pp.555-564, 1983. ,
Cochlear gene transfer: round window versus cochleostomy inoculation, Hear Res, vol.136, pp.124-154, 1999. ,
DNA interrogation by the CRISPR RNA-guided endonuclease Cas9, Nature, vol.507, pp.62-67, 2014. ,
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants, EMBO J, vol.35, pp.2519-2535, 2016. ,
Pharmacology, structure and function of cardiac L-type Ca(2+) channels, Cell Physiol Biochem, vol.9, pp.242-69, 1999. ,
L-type Ca2+ channels in heart and brain, Wiley Interdiscip Rev Membr Transp Signal, vol.3, pp.15-38, 2014. ,
The synaptic vesicle cycle : a cascade of protein-protein interactions, Nature, vol.375, pp.645-53, 1995. ,
The synaptic vesicle cycle, Annu Rev Neurosci, vol.27, pp.509-536, 2004. ,
membrane fusion : grappling with SNARE and SM proteins, Science, vol.323, pp.474-481, 2009. ,
Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions, J Virol, vol.72, pp.1438-1483, 1998. ,
Structure of the first C2 domain of synaptotagmin I: a novel Ca2+/phospholipid-binding fold, Cell, vol.80, pp.929-967, 1995. ,
Cochlear gene therapy with ancestral AAV in adult mice : complete transduction of inner hair cells without cochlear dysfunction, Sci Rep, vol.7, p.46827, 2017. ,
In vivo gene editing in dystrophic mouse muscle and muscle stem cells, Science, vol.351, pp.407-411, 2016. ,
Response properties of single auditory nerve fibers in the mouse, J Neurophysiol, vol.93, pp.551-69, 2005. ,
The synaptic vesicle cycle: a singlevesicle budding step involving clathrin and dynamin, J. Cell Biol, vol.133, pp.1237-1250, 1996. ,
Effective delivery of large genes to the retina by dual AAV vectors, EMBO Mol Med, vol.6, pp.194-211, 2014. ,
Seeing the Light after 25 Years of Retinal Gene Therapy, trends Mol Med, vol.24, pp.669-81, 2018. ,
CRISPR/Cas9: a powerful genetic engineering tool for establishing large animal models of neurodegenerative diseases, Mol Neurodegener, vol.10, p.35, 2015. ,
Nerve growth factor gene therapy: activation of neuronal responses in Alzheimer disease, The JAMA Neurology, vol.72, pp.1139-1147, 2015. ,
Ca2+ binding to synaptotagmin: how many Ca2+ ions bind to the tip of a C2-domain ?, EMBO J, vol.17, pp.3921-3951, 1998. ,
Molecular anatomy of the hair cell's ribbon synapse, J Neurosci, vol.30, pp.12387-12399, 2010. ,
The role of the adeno-associated virus capsid in gene transfer, Methods Mol Biol, vol.437, pp.51-91, 2008. ,
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele, J Med Genet, vol.43, pp.576-81, 2006. ,
Exocytotic machineries of vestibular type I and cochlear ribbon synapses display similar intrinsic otoferlin dependent Ca2+ sensitivity but a different coupling to Ca2+ channels, J Neurosci, vol.34, pp.10853-10869, 2014. ,
A synaptic F-actin network controls otoferlindependent exocytosis in auditory inner hair cells, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01312800
, , 2017.
, Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells, J Neurosci, vol.37, pp.2960-2975
, Cell Report, 2018.
Unconventional molecular regulation of synaptic vesicle replenishment in cochlear inner hair cells, J Cell Sci, vol.128, pp.638-644, 2015. ,
Plasticity of retinal ribbon synapses, Microsc Res Tech, vol.35, pp.472-87, 1996. ,
Dynamics of synaptic vesicle fusion and membrane retrieval in synaptic terminals, Nature, vol.367, pp.735-744, 1994. ,
Inhibition of endocytosis by elevated internal calcium in a synaptic terminal, Nature, vol.370, pp.652-657, 1994. ,
(2002) Beethoven, a mousemodel for dominant, progressive hearing loss DFNA36, Nat. Genet, vol.30, pp.257-258 ,
A Local, Periactive Zone Endocytic Machinery at Photoreceptor Synapses in Close Vicinity to Synaptic Ribbons, J Neurosci, vol.33, pp.10278-300, 2013. ,
Toward Cochlear Therapies, Physiol Rev, vol.98, pp.2477-2522, 2018. ,
Ultrafast endocytosis at Caenorhabditis elegans neuromuscular junctions, Elife, vol.2, p.723, 2013. ,
Ultrafast endocytosis at mouse hippocampal synapses, Nature, vol.504, pp.242-289, 2013. ,
Clathrin regenerates synaptic vesicles from endosomes, Nature, vol.515, pp.228-261, 2014. ,
, Fast and ultrafast endocytosis Curr Opin Cell Biol, vol.515, pp.228-261, 2017.
The alpha9 alpha10 nicotinic acetylcholine receptor is permeable to and is modulated by divalent cations, Hear Res, vol.167, pp.122-135, 2002. ,
Synaptic transfer from outer hair cells to type II afferent fibers in the rat cochlea, J Neurosci, vol.32, pp.9528-9564, 2012. ,
Relating structure and function of inner hair cell ribbon synapses, Cell Tissue Res, vol.361, pp.95-114, 2015. ,
Cochlear implants: A remarkable past and a brilliant future, Hear. Res, vol.242, pp.3-21, 2008. ,
Synaptic ribbon enables temporal precision of hair cell afferent synapse by increasing the number of readily releasable vesicles: a modeling study, J Neurophysiol, vol.100, pp.1724-1763, 2008. ,
Developmental refinement of hair cell synapses tightens the coupling of Ca2+ influx to exocytosis, EMBO J, vol.33, pp.247-264, 2014. ,
Adeno-associated virus serotypes: Vector toolkit for human gene therapy, MolTher, vol.14, pp.316-327, 2006. ,
Inner ear gene transfection in neonatal mice using adeno-associated viral vector: a comparison of two approaches, PLoS One, vol.7, p.43218, 2012. ,
Neuronal Ca(V)1.3alpha(1) L-type channels activate at relatively hyperpolarized membrane potentials and are incompletely inhibited by dihydropyridines, J Neurosci, vol.21, pp.5944-51, 2001. ,
The Janus-faced nature of the C(2)B domain is fundamental for synaptotagmin-1 function, Nat Struct Mol Biol, vol.15, pp.1160-1168, 2008. ,
,
, Switching of Ca2+-dependent inactivation of Cav1.3 channels by calcium binding proteins of auditory hair cells, J. Neurosci, vol.26, pp.10677-10689
Uncoupling the roles of synaptotagmin I during endo-and exocytosis of synaptic vesicles, Nat Neurosci, vol.15, pp.243-252, 2012. ,
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness, Nat Genet, vol.21, pp.363-369, 1999. ,
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9, Am J Hum Genet, vol.67, pp.591-600, 2000. ,
In Vivo Applications of CRISPR-Based Genome Editing in the Retina, Front Cell Dev Biol, vol.6, p.53, 2018. ,
Synaptotagmin I is a high affinity receptor for clathrin AP-2: implications for membrane recycling, Cell, vol.78, pp.751-760, 1994. ,
Prestin is the motor protein of cochlear outer hair cells, Nature, vol.405, pp.149-155, 2000. ,
The effects of external pH on calcium channel currents in bullfrog sympathetic neurons, Biophys J, vol.70, pp.1326-1334, 1996. ,
Architecture of the synaptotagmin-SNARE machinery for neuronal exocytosis, Nature, vol.525, pp.62-69, 2015. ,
In silico reconstruction of the viral evolutionary lineage yields a potent gene therapy vector, Cell Rep, vol.12, pp.1056-1068, 2015. ,