Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant.
Sign Up to like & getrecommendations! Published in 2021 at "Biophysical journal"
DOI: 10.1016/j.bpj.2021.11.004
Abstract: 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… read more here.
Keywords: enhanced hemichannel; hemichannel; mutant; molecular mechanisms ... See more keywords
A Novel Cx50 Insert Mutation from a Chinese Congenital Cataract Family Impairs Its Cellular Membrane Localization and Function.
Sign Up to like & getrecommendations! Published in 2018 at "DNA and cell biology"
DOI: 10.1089/dna.2017.4051
Abstract: Mutations in GJA8 are associated with hereditary autosomal dominant and recessive cataract formation. In this study, a novel insert mutation in GJA8 was identified in a Chinese congenital cataract family and cosegregated with the disease… read more here.
Keywords: cx50 insert; cx50; cataract; membrane ... See more keywords