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Article

A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor.

The Journal of biological chemistry - 12 Jul 2013

Minogue Peter J, Beyer Eric C, Berthoud Viviana M

Abstract excerpt

The mechanisms by which mutant connexins lead to disease are diverse, including those of connexin50 (CX50) encoded by the GJA8 gene. We investigated the cellular and functional behavior of CX50fs, a mutant CX50 that has a frameshift after amino acid 255 and causes recessive congenital cataracts. Cellular levels of CX50fs were much lower than those of wild type CX50 in stably transfected HeLa cells. Whereas CX50...

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Identifiers

PMID: 23720739
DOI: 10.1074/jbc.M113.452847
PMCID: PMC3711308

Genes

GJA8

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