Endoplasmic reticulum stress: molecular mechanism and therapeutic targets
X Chen, C Shi, M He, S Xiong, X Xia - Signal transduction and targeted …, 2023 - nature.com
The endoplasmic reticulum (ER) functions as a quality-control organelle for protein
homeostasis, or “proteostasis”. The protein quality control systems involve ER-associated …
homeostasis, or “proteostasis”. The protein quality control systems involve ER-associated …
Genes and molecular pathways underpinning ciliopathies
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
Mechanisms of photoreceptor death in retinitis pigmentosa
F Newton, R Megaw - Genes, 2020 - mdpi.com
Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is
characterised by the progressive loss of retinal photoreceptors. However, RP is a highly …
characterised by the progressive loss of retinal photoreceptors. However, RP is a highly …
Early and late stage gene therapy interventions for inherited retinal degenerations
C Botto, M Rucli, MD Tekinsoy, J Pulman… - Progress in Retinal and …, 2022 - Elsevier
Inherited and age-related retinal degeneration is the hallmark of a large group of
heterogeneous diseases and is the main cause of untreatable blindness today. Genetic …
heterogeneous diseases and is the main cause of untreatable blindness today. Genetic …
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy
D Athanasiou, M Aguila, J Bellingham, W Li… - Progress in retinal and …, 2018 - Elsevier
Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding
condition, retinitis pigmentosa (RP). Over 150 different mutations in rhodopsin have been …
condition, retinitis pigmentosa (RP). Over 150 different mutations in rhodopsin have been …
Cellular responses following retinal injuries and therapeutic approaches for neurodegenerative diseases
Retinal neurodegenerative diseases like age-related macular degeneration, glaucoma,
diabetic retinopathy and retinitis pigmentosa each have a different etiology and …
diabetic retinopathy and retinitis pigmentosa each have a different etiology and …
The endoplasmic reticulum: Homeostasis and crosstalk in retinal health and disease
The endoplasmic reticulum (ER) is the largest intracellular organelle carrying out a broad
range of important cellular functions including protein biosynthesis, folding, and trafficking …
range of important cellular functions including protein biosynthesis, folding, and trafficking …
The role of inflammation in retinal neurodegeneration and degenerative diseases
Retinal neurodegeneration is predominantly reported as the apoptosis or impaired function
of the photoreceptors. Retinal degeneration is a major causative factor of irreversible vision …
of the photoreceptors. Retinal degeneration is a major causative factor of irreversible vision …
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector
AV Cideciyan, R Sudharsan… - Proceedings of the …, 2018 - National Acad Sciences
Inherited retinal degenerations are caused by mutations in> 250 genes that affect
photoreceptor cells or the retinal pigment epithelium and result in vision loss. For autosomal …
photoreceptor cells or the retinal pigment epithelium and result in vision loss. For autosomal …
In vivo editing of the human mutant rhodopsin gene by electroporation of plasmid-based CRISPR/Cas9 in the mouse retina
MC Latella, MT Di Salvo, F Cocchiarella… - … Therapy-Nucleic Acids, 2016 - cell.com
The bacterial CRISPR/Cas system has proven to be an efficient tool for genetic manipulation
in various organisms. Here we show the application of CRISPR-Cas9 technology to edit the …
in various organisms. Here we show the application of CRISPR-Cas9 technology to edit the …