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Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway

2018; Elsevier BV; Volume: 19; Linguagem: Inglês

10.1016/j.redox.2018.08.002

2213-2317

Anna Rita Fetoni, Veronica Zorzi, Fabiola Paciello, Gaia Ziraldo, Chiara Peres, Marcello Raspa, Ferdinando Scavizzi, Anna Maria Salvatore, Giulia Crispino, Gabriella Tognola, Giulia Gentile, Antonio Gianmaria Spampinato, Denis Cuccaro, Maria Guarnaccia, Giovanna Morello, Guy Van Camp, Erik Fransén, Marco Brumat, Giorgia Girotto, Gaetano Paludetti, Paolo Gasparini, Sebastiano Cavallaro, Fabio Mammano,

Neuroscience of respiration and sleep

Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are the most common cause of sensorineural hearing impairment. The truncating variant 35delG, which determines a complete loss of Cx26 protein function, is the prevalent GJB2 mutation in several populations. Here, we generated and analyzed Gjb2