Transgenic overexpression of connexin50 induces cataracts

J Chung, VM Berthoud, L Novak, R Zoltoski… - Experimental eye …, 2007 - Elsevier
To examine the effects of increased expression of Cx50 in the mouse lens, transgenic mice
were generated using a DNA construct containing the human Cx50 coding region and a C …

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 …

Structural changes in lenses of mice lacking the gap junction protein connexin43.

Y Gao, DC Spray - Investigative ophthalmology & visual …, 1998 - iovs.arvojournals.org
PURPOSE: To investigate the role of the gap junction protein connexin43 (Cx43), which is
predominantly expressed in lens epithelial cells in the control of lens development and …

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts

TW White, DA Goodenough, DL Paul - The Journal of cell biology, 1998 - rupress.org
In the ocular lens, gap junctional communication is a key component of homeostatic
mechanisms preventing cataract formation. Gap junctions in rodent lens fibers contain two …

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 …

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] Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation

VM Berthoud, PJ Minogue, H Yu… - … & Visual Science, 2013 - jov.arvojournals.org
Purpose.: Substitutions of aspartate-47 (D47) of Connexin50 (Cx50) have been linked to
autosomal dominant congenital cataracts in several human pedigrees. To elucidate the lens …

Bovine connexin44, a lens gap junction protein: molecular cloning, immunologic characterization, and functional expression.

VK Gupta, VM Berthoud, N Atal… - … & visual science, 1994 - iovs.arvojournals.org
PURPOSE: To identify, clone molecularly, characterize immunochemically, and express
functionally a bovine lens gap junction protein (connexin). METHODS: The methods used …

Loss of function and impaired degradation of a cataract-associated mutant connexin50

VM Berthoud, PJ Minogue, J Guo… - European journal of cell …, 2003 - Elsevier
A mutant human connexin50 (hCx50), hCx50P88S, has been linked to cataracts inherited as
an autosomal dominant trait. The functional, biochemical and cellular behavior of wild-type …

Functional effects of Cx50 mutations associated with congenital cataracts

C Rubinos, K Villone, PV Mhaske… - … of Physiology-Cell …, 2014 - journals.physiology.org
Mutations in connexin50 (Cx50) cause dominant cataracts in both humans and mice. The
exact mechanisms by which mutations cause these variable phenotypes are poorly …