Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

Jérôme Ruel, Sarah B. Emery, Régis Nouvian, +14

The American Journal of Human Genetics

Knockout MouseNull MiceMolecular NeuroscienceMolecular PhysiologyDegenerative Disease +6

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

Avital Adato, G. Lefèvre, Benjamin Delprat, +6

Human Molecular Genetics

Isolated DeafnessProtein SecretionGeneticsCytoskeletonCongenital Deafness +16

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

Benjamin Delprat, Vincent Michel, Richard J. Goodyear, +8

Human Molecular Genetics

Molecular RegulationGeneticsMolecular BiologyHair BundlesMolecular Genetics +20

ER-mitochondria cross-talk is regulated by the Ca ²⁺ sensor NCS1 and is impaired in Wolfram syndrome

Claire Angebault, Jérémy Fauconnier, Simone Patergnani, +16

Science Signaling

Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

Lydie Fasquelle, Hamish S. Scott, Marc Lenoir, +12

Journal of Biological Chemistry

FXYD6 Is a Novel Regulator of Na,K-ATPase Expressed in the Inner Ear

Benjamin Delprat, Danièle Schaer, Sophie Roy, +3

Journal of Biological Chemistry

Molecular BiologyCellular PhysiologyMembrane TransportInner EarExquisite Sensitivity +19

Deafness and Cochlear Fibrocyte Alterations in Mice Deficient for the Inner Ear Protein Otospiralin

Benjamin Delprat, Jérôme Ruel, Matthieu J. Guitton, +6

Molecular and Cellular Biology

Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models

Lucie Crouzier, Alberto Danese, Yuko Yasui, +13

Science Translational Medicine

Downregulation of Otospiralin, a Novel Inner Ear Protein, Causes Hair Cell Degeneration and Deafness

Benjamin Delprat, Ana Boulanger, Jing Wang, +8

Journal of Neuroscience

ImmunologyOtorhinolaryngologyPathologyNeurotologyCytoskeleton +16

A novel heterozygous <i>OPA3</i> mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

Tanja Grau, Lena F. Burbulla, Gertraud Engl, +9

Journal of Medical Genetics