[HTML][HTML] Mouse models of inherited retinal degeneration with photoreceptor cell loss

GB Collin, N Gogna, B Chang, N Damkham, J Pinkney… - Cells, 2020 - mdpi.com
… irdr mice may recapitulate recessive rod-cone dystrophy, … rescued by heterozygous Gnb1
Gt(prvSStrap)4B8Yiw mice [… , most mouse models for NCL disease show an early onset of PR …

[HTML][HTML] cGMP Signaling in Photoreceptor Degeneration

S Li, H Ma, F Yang, X Ding - International Journal of Molecular Sciences, 2023 - mdpi.com
Photoreceptors degenerate in many hereditary retinal diseases, … forms involve severe dystrophy
of photoreceptors), achromatopsia … Cpfl1 mice display the early-onset, rapid/severe cone …

Inherited retinal diseases: Therapeutics, clinical trials and end points—A review

M Georgiou, K Fujinami… - Clinical & Experimental …, 2021 - Wiley Online Library
… amaurosis/early onset severe retinal dystrophy (LCA/EOSRD… sequence in mouse and
macaque photoreceptors in vivo, … for patients with compound heterozygous or homozygous intron …

The potential role of retinal cGMP-interaction partners within the degeneration mechanism causing Retinitis Pigmentosa

M Rasmussen - 2022 - portal.research.lu.se
… heterogeneous group of inherited retinal dystrophies, and it … high photoreceptor cyclic GMP
(cGMP) level exists in several … of retinal degeneration with a relatively early onset, at around …

[HTML][HTML] Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model

S Kandaswamy, L Zobel, B John, ST Santhiya… - Cell Death …, 2022 - nature.com
… of progressive inherited retinal dystrophies that may present … CNGB1 forms a cyclic guanosine
monophosphate (cGMP)-… This family was clinically diagnosed with early onset retinitis …

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials

MD Varela, TAC de Guimaraes, M Georgiou… - British Journal of …, 2022 - bjo.bmj.com
photoreceptor degeneration by supplementing 11-cis-retinal … concentration of cyclic guanosine
monophosphate (cGMP).10 … 1655A>G in a homozygous or compound heterozygous state.…

The causes of retinal dystrophy and the development of more comprehensive screening approach

SAA Yahya - 2023 - etheses.whiterose.ac.uk
dystrophy and one with age related macular degeneration were found to carry the same
heterozygous ~… in patients with heterozygous variants in the gene encoding retinal transcription …

[HTML][HTML] Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology

AV Garafalo, R Sheplock, A Sumaroka, AJ Roman… - …, 2021 - thelancet.com
… cone-rod dystrophy (CORD) are those encoding molecules … of their roles in normal
visual function and retinal structure. … The cone-specific cyclic guanosine monophosphate (cGMP)-…

[HTML][HTML] GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic …

A Plana-Bonamaisó, S López-Begines, J Andilla… - Cell Death & …, 2020 - nature.com
cyclic GMP (cGMP) is an essential process in photoreceptor … the physiopathology of retinal
dystrophies characterized by rod/… at p21, at an early onset of retinal degeneration of rd3 mice. …

[HTML][HTML] Drug discovery strategies for inherited retinal degenerations

A Das, Y Imanishi - Biology, 2022 - mdpi.com
… found in retina degeneration 1 (rd1) and 10 (rd10) mouse models … by its extremely early
onset of photoreceptor degeneration, … photoreceptor loss in P23H rhodopsin gene heterozygote