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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
an autosomal dominant trait. The functional, biochemical and cellular behavior of wild-type …
Functional effects of Cx50 mutations associated with congenital cataracts
Mutations in connexin50 (Cx50) cause dominant cataracts in both humans and mice. The
exact mechanisms by which mutations cause these variable phenotypes are poorly …
exact mechanisms by which mutations cause these variable phenotypes are poorly …