Article

Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant

2021-08-19

Abstract excerpt

Connexin-50 (Cx50) is among the most frequently mutated genes associated with congenital cataracts. While most of these disease-linked variants cause loss-of-function due to misfolding or aberrant trafficking, others directly alter channel properties. The mechanistic bases for such functional defects are mostly unknown. We investigated the functional and structural properties of a cataract-linked mutant, Cx50T39R...

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Literature Corpus work: 0c1b618c-c612-5b9b-a6a8-781029e67e9c
DOI: 10.1101/2021.08.18.456706

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