Article
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
American journal of human genetics - 1 Aug 2008
Ruel Jérôme, Emery Sarah, Nouvian Régis, Bersot Tiphaine, Amilhon Bénédicte, Van Rybroek Jana M, Rebillard Guy, Lenoir Marc, Eybalin Michel, Delprat Benjamin, Sivakumaran Theru A, Giros Bruno, El Mestikawy Salah, Moser Tobias, Smith Richard J H, Lesperance Marci M, Puel Jean-Luc
Abstract excerpt
Autosomal-dominant sensorineural hearing loss is genetically heterogeneous, with a phenotype closely resembling presbycusis, the most common sensory defect associated with aging in humans. We have identified SLC17A8, which encodes the vesicular glutamate transporter-3 (VGLUT3), as the gene respon...
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