The core hypothesis of this proposal is that connexin protein modification and interactions regulate connexin biosynthesis and targeting, gap junctional assembly and degradation, and channel permeability and gating. In addition, as multiple forms of human lens connexins have been identified in patients with congenital cataracts, it is also hypothesized that these mutations lead to impaired intercellular communication due to defects in the regulated processes outlined above. The chicken connexin56 (Cx56) will be studied as a prototype for the function and regulation of fiber connexins. The consequences of phosphorylation of Cx56 will be determined in addition to possible association of Cx56 with other cellular proteins. The genomic structure of the chicken connexin genes will be analyzed to determine elements involved in genetic regulation. The human connexins Cx46 and Cx50 will also be studied in a similar fashion to the chicken genes.
| Jara, Oscar; Minogue, Peter J; Berthoud, Viviana M et al. (2018) Chemical chaperone treatment improves levels and distributions of connexins in Cx50D47A mouse lenses. Exp Eye Res 175:192-198 |
| Gao, Junyuan; Minogue, Peter J; Beyer, Eric C et al. (2018) Disruption of the lens circulation causes calcium accumulation and precipitates in connexin mutant mice. Am J Physiol Cell Physiol 314:C492-C503 |
| Beyer, Eric C; Berthoud, Viviana M (2018) Gap junction gene and protein families: Connexins, innexins, and pannexins. Biochim Biophys Acta Biomembr 1860:5-8 |
| Leybaert, Luc; Lampe, Paul D; Dhein, Stefan et al. (2017) Connexins in Cardiovascular and Neurovascular Health and Disease: Pharmacological Implications. Pharmacol Rev 69:396-478 |
| Minogue, Peter J; Gao, Junyuan; Zoltoski, Rebecca K et al. (2017) Physiological and Optical Alterations Precede the Appearance of Cataracts in Cx46fs380 Mice. Invest Ophthalmol Vis Sci 58:4366–4374 |
| Beyer, Eric C; Berthoud, Viviana M (2017) Gap junction structure: unraveled, but not fully revealed. F1000Res 6:568 |
| Berthoud, Viviana M; Ngezahayo, Anaclet (2017) Focus on lens connexins. BMC Cell Biol 18:6 |
| Kuo, Debbie S; Sokol, Jared T; Minogue, Peter J et al. (2017) Characterization of a variant of gap junction protein ?8 identified in a family with hereditary cataract. PLoS One 12:e0183438 |
| Berthoud, Viviana M; Minogue, Peter J; Snabb, Joseph I et al. (2016) Connexin23 deletion does not affect lens transparency. Exp Eye Res 146:283-8 |
| Senthil Kumar, G; Dinesh Kumar, K; Minogue, P J et al. (2016) The E368Q Mutant Allele of GJA8 is Associated with Congenital Cataracts with Intrafamilial Variation in a South Indian Family. Open Access J Ophthalmol 1: |
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