Chemical chaperone treatment improves levels and distributions of connexins in Cx50D47A mouse lenses
Abstract Mouse Cx50D47A and human Cx50D47N are non-functional connexin mutants that
cause dominantly-inherited cataracts. In tissue culture expression experiments, they both
exhibit impaired cellular trafficking and gap junction plaque formation. Lenses of mice
expressing Cx50D47A have cataracts, reduced size, drastically decreased levels of
connexin50, and less severely reduced levels of connexin46. The PERK-dependent
pathway of the ER response to misfolded proteins is activated, and they have impaired …
cause dominantly-inherited cataracts. In tissue culture expression experiments, they both
exhibit impaired cellular trafficking and gap junction plaque formation. Lenses of mice
expressing Cx50D47A have cataracts, reduced size, drastically decreased levels of
connexin50, and less severely reduced levels of connexin46. The PERK-dependent
pathway of the ER response to misfolded proteins is activated, and they have impaired …