[HTML][HTML] Focus on lens connexins

VM Berthoud, A Ngezahayo - BMC cell biology, 2017 - Springer
The lens is an avascular organ composed of an anterior epithelial cell layer and fiber cells
that form the bulk of the organ. The lens expresses connexin43 (Cx43), connexin46 (Cx46) …

Dominant cataracts result from incongruous mixing of wild-type lens connexins

FJ Martinez-Wittinghan, C Sellitto, L Li, X Gong… - The Journal of cell …, 2003 - rupress.org
Gap junctions are composed of proteins called connexins (Cx) and facilitate both ionic and
biochemical modes of intercellular communication. In the lens, Cx46 and Cx50 provide the …

The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium

AM DeRosa, G Meşe, L Li, C Sellitto, PR Brink… - Experimental cell …, 2009 - Elsevier
Mutations in Connexin50 (Cx50) cause cataracts in both humans and mice. The mechanism
(s) behind how mutated connexins lead to a variety of cataracts have yet to be fully …

Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development

JX Jiang - Current molecular medicine, 2010 - ingentaconnect.com
In the last decade or so, increasing evidences suggest that the mutations of two connexin
genes, GJA3 and GJA8, are directly linked to human congenital cataracts in North and …

[HTML][HTML] Connexin46fs380 causes progressive cataracts

VM Berthoud, PJ Minogue, H Yu… - … & Visual Science, 2014 - iovs.arvojournals.org
Purpose.: Although many connexin46 (Cx46) mutants have been linked to inherited human
cataracts, there are no adequate animal models for their study. The current experiments …

[HTML][HTML] Roles and regulation of lens epithelial cell connexins

VM Berthoud, PJ Minogue, P Osmolak, JI Snabb… - FEBS letters, 2014 - Elsevier
The avascular lens of the eye is covered anteriorly by an epithelium containing nucleated,
metabolically active cells. This epithelium contains the first lens cells to encounter noxious …

[HTML][HTML] Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death

Q Ren, MA Riquelme, J Xu, X Yan, BJ Nicholson… - PLoS …, 2013 - journals.plos.org
Connexin channels play a critical role in maintaining metabolic homeostasis and
transparency of the lens. Mutations in connexin genes are linked to congenital cataracts in …

[HTML][HTML] Mutations of CX46/CX50 and cataract development

Y Shi, X Li, J Yang - Frontiers in Molecular Biosciences, 2022 - frontiersin.org
Cataract is a common disease in the aging population. Gap junction has been considered a
central component in maintaining homeostasis for preventing cataract formation. Gap …

The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins

AM DeRosa, CH Xia, X Gong… - Journal of cell …, 2007 - journals.biologists.com
Mutations within connexin50 (Cx50) have been linked to various cataract phenotypes. To
determine the mechanism behind cataract formation we used the paired Xenopus oocyte …

Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43

RS Wong, H Chen, YX Li, JL Esseltine… - … of Physiology-Cell …, 2024 - journals.physiology.org
The human lens is an avascular organ, and its transparency is dependent on gap junction
(GJ)-mediated microcirculation. Lens GJs are composed of three connexins with Cx46 and …