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 …
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 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 …
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 …
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 …
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 …
Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46
JJ Tong, BCH Sohn, A Lam… - … of Physiology-Cell …, 2013 - journals.physiology.org
Mutations in connexin 46 are associated with congenital cataracts. The purpose of this
project was to characterize cellular and functional properties of two congenital cataract …
project was to characterize cellular and functional properties of two congenital cataract …
[HTML][HTML] Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels
X Xu, VM Berthoud, EC Beyer… - The Journal of membrane …, 2002 - ncbi.nlm.nih.gov
Gap junction channels formed by connexin 50 (Cx50) are critical for maintenance of lens
transparency. Because the C-terminus of Cx50 can be cleaved post-translationally, we …
transparency. Because the C-terminus of Cx50 can be cleaved post-translationally, we …
Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function
CK Abrams, A Peinado, R Mahmoud… - … of Physiology-Cell …, 2018 - journals.physiology.org
The connexins are members of a family of integral membrane proteins that form gap junction
channels between apposed cells and/or hemichannels across the plasma membranes. The …
channels between apposed cells and/or hemichannels across the plasma membranes. The …
Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner
The connexin (Cx) 50, E48K, mutation is associated with a human dominant congenital
cataract; however, the underlying molecular mechanism has not been characterized. The …
cataract; however, the underlying molecular mechanism has not been characterized. The …