Article

Computer simulations reveal pathogenicity and inheritance modes of hearing loss-causing germinal variants

2022-05-04

Abstract excerpt

Variants in the gap junction beta-2 ( GJB2 ) gene are the most common cause of hereditary hearing impairment. However, how GJB2 variants lead to local physicochemical and structural changes in the hexameric ion channels of connexin 26 (Cx26), resulting in hearing impairment, remains elusive. In the present study, using molecular dynamics (MD) simulations, we showed that detached inner-wall N-terminal “plugs” agg...

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Literature Corpus work: d8352a55-9ef5-54cf-8ebf-824adf2b223d
DOI: 10.1101/2022.05.02.490275

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