Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of …

B Schlingmann, P Schadzek, S Busko… - Journal of bioenergetics …, 2012 - Springer
Abstract Connexin46 (Cx46), together with Cx50, forms gap junction channels between lens
fibers and participates in the lens pump-leak system, which is essential for the homeostasis …

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 …

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function

JD Pal, X Liu, D Mackay, A Shiels… - … of Physiology-Cell …, 2000 - journals.physiology.org
Human connexin46 (hCx46) forms gap junctional channels interconnecting lens fiber cells
and appears to be critical for normal lens function, because hCx46 mutations have been …

The connexin 46 mutant (V44M) impairs gap junction function causing congenital cataract

L Chen, D Su, S Li, L Guan, C Shi, D Li, S Hu, X Ma - Journal of genetics, 2017 - Springer
Abstract Connexin 46 (Cx46) is important for gap junction channels formation which plays
crucial role in the preservation of lens homeostasis and transparency. Previously, we have …

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 …

[HTML][HTML] The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels

P Schadzek, B Schlingmann, F Schaarschmidt… - … et Biophysica Acta (BBA …, 2016 - Elsevier
The mutation N188T in human connexin46 (hCx46) correlates with a congenital nuclear
pulverulent cataract. This mutation is in the second extracellular loop, a domain involved in …

[HTML][HTML] A mutant connexin50 with enhanced hemichannel function leads to cell death

PJ Minogue, JJ Tong, A Arora… - … & visual science, 2009 - jov.arvojournals.org
Purpose.: To determine the consequences of expression of a novel connexin50 (CX50)
mutant identified in a child with congenital total cataracts. Methods.: The GJA8 gene was …

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 …

Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50

JJ Tong, PJ Minogue, W Guo… - … of Physiology-Cell …, 2011 - journals.physiology.org
Gap junction channels, which are made of connexins, are critical for intercellular
communication, a function that may be disrupted in a variety of diseases. We studied the …

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 …