Biology and therapy of inherited retinal degenerative disease: insights from mouse models

S Veleri, CH Lazar, B Chang… - Disease models & …, 2015 - journals.biologists.com
Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Neuronal calcium sensor proteins: generating diversity in neuronal Ca2+ signalling

RD Burgoyne - Nature Reviews Neuroscience, 2007 - nature.com
In neurons, intracellular calcium signals have crucial roles in activating neurotransmitter
release and in triggering alterations in neuronal function. Calmodulin has been widely …

Guanylyl cyclase structure, function and regulation

LR Potter - Cellular signalling, 2011 - Elsevier
Nitric oxide, bicarbonate, natriuretic peptides (ANP, BNP and CNP), guanylins, uroguanylins
and guanylyl cyclase activating proteins (GCAPs) activate a family of enzymes variously …

Phototransduction in mouse rods and cones

Y Fu, KW Yau - Pflügers Archiv-European Journal of Physiology, 2007 - Springer
Phototransduction is the process by which light triggers an electrical signal in a
photoreceptor cell. Image-forming vision in vertebrates is mediated by two types of …

Photoreceptor signaling: supporting vision across a wide range of light intensities

VY Arshavsky, ME Burns - Journal of Biological Chemistry, 2012 - jbc.org
For decades, photoreceptors have been an outstanding model system for elucidating basic
principles in sensory transduction and biochemistry and for understanding many facets of …

Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness

Z Chai, Y Ye, D Silverman, K Rose, A Madura… - Proceedings of the …, 2024 - pnas.org
Congenital stationary night blindness (CSNB) is an inherited retinal disease that causes a
profound loss of rod sensitivity without severe retinal degeneration. One well-studied …

Mouse models of inherited retinal degeneration with photoreceptor cell loss

GB Collin, N Gogna, B Chang, N Damkham, J Pinkney… - Cells, 2020 - mdpi.com
Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis

M Michaelides, AJ Hardcastle, DM Hunt… - Survey of ophthalmology, 2006 - Elsevier
The cone and cone–rod dystrophies form part of a heterogeneous group of retinal disorders
that are an important cause of visual impairment in children and adults. There have been …

Beyond counting photons: trials and trends in vertebrate visual transduction

ME Burns, VY Arshavsky - Neuron, 2005 - cell.com
For over 30 years, photoreceptors have been an outstanding model system for elucidating
basic principles in sensory transduction and G protein signaling. Recently, photoreceptors …

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

S Broadgate, J Yu, SM Downes, S Halford - Progress in retinal and eye …, 2017 - Elsevier
The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …