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 …
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
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 …
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 …
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 …
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 …
(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 …
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 …
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
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 …
(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 …
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 …
determine the mechanism behind cataract formation we used the paired Xenopus oocyte …