Molecular physiology of membrane guanylyl cyclase receptors

M Kuhn - Physiological reviews, 2016 - journals.physiology.org
cGMP controls many cellular functions ranging from growth, viability, and differentiation to
contractility, secretion, and ion transport. The mammalian genome encodes seven …

Cellular mechanisms of hereditary photoreceptor degeneration–Focus on cGMP

M Power, S Das, K Schütze, V Marigo, P Ekström… - Progress in Retinal and …, 2020 - Elsevier
The cellular mechanisms underlying hereditary photoreceptor degeneration are still poorly
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …

[HTML][HTML] Achromatopsia: genetics and gene therapy

S Michalakis, M Gerhardt, G Rudolph… - Molecular diagnosis & …, 2022 - Springer
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …

Why are rods more sensitive than cones?

NT Ingram, AP Sampath, GL Fain - The Journal of physiology, 2016 - Wiley Online Library
One hundred and fifty years ago Max Schultze first proposed the duplex theory of vision, that
vertebrate eyes have two types of photoreceptor cells with differing sensitivity: rods for dim …

Combination of cGMP analogue and drug delivery system provides functional protection in hereditary retinal degeneration

E Vighi, D Trifunović, P Veiga-Crespo… - Proceedings of the …, 2018 - National Acad Sciences
Inherited retinal degeneration (RD) is a devastating and currently untreatable
neurodegenerative condition that leads to loss of photoreceptor cells and blindness. The …

Outer retinal tubulation in advanced age-related macular degeneration: optical coherence tomographic findings correspond to histology

KB Schaal, KB Freund, KM Litts, Y Zhang… - Retina, 2015 - journals.lww.com
Purpose: To compare optical coherence tomography (OCT) and histology of outer retinal
tubulation (ORT) secondary to advanced age-related macular degeneration in patients and …

[HTML][HTML] The role of cGMP-signalling and calcium-signalling in photoreceptor cell death: perspectives for therapy development

S Das, Y Chen, J Yan, G Christensen, S Belhadj… - … -European Journal of …, 2021 - Springer
The second messengers, cGMP and Ca 2+, have both been implicated in retinal
degeneration; however, it is still unclear which of the two is most relevant for photoreceptor …

Regulation of calcium homeostasis in the outer segments of rod and cone photoreceptors

F Vinberg, J Chen, VJ Kefalov - Progress in Retinal and eye Research, 2018 - Elsevier
Calcium plays important roles in the function and survival of rod and cone photoreceptor
cells. Rapid regulation of calcium in the outer segments of photoreceptors is required for the …

[HTML][HTML] Kinase activity profiling identifies putative downstream targets of cGMP/PKG signaling in inherited retinal neurodegeneration

A Roy, A Tolone, R Hilhorst, J Groten, T Tomar… - Cell Death …, 2022 - nature.com
Inherited retinal diseases (IRDs) are a group of neurodegenerative disorders that lead to
photoreceptor cell death and eventually blindness. IRDs are characterised by a high genetic …

[PDF][PDF] Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

SG Jacobson, AV Cideciyan, AC Ho, IV Peshenko… - Iscience, 2021 - cell.com
A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations
in the GUCY2D gene is underway, and early results are summarized. A recombinant adeno …