Article
The cytoplasmic accumulations of the cataract-associated mutant, Connexin50P88S, are long-lived and form in the endoplasmic reticulum.
Experimental eye research - 1 Mar 2009
Lichtenstein Alexandra, Gaietta Guido M, Deerinck Thomas J, Crum John, Sosinsky Gina E, Beyer Eric C, Berthoud Viviana M
Abstract excerpt
Mutant connexins have been linked to hereditary congenital cataracts. One such mutant causes a proline-to-serine substitution at position 88 in human connexin 50 (CX50P88S). In transfected cells, CX50P88S does not form gap junctions, but localizes in cytoplasmic multilamellar structures. We studied the dynamics of formation and the stability of these structures in HeLa cells stably transfected with CX50P88S...
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