Pharmaceuticals promoting premature termination codon readthrough: progress in development

S Li, J Li, W Shi, Z Nie, S Zhang, F Ma, J Hu, J Chen… - Biomolecules, 2023 - mdpi.com
Around 11% of all known gene lesions causing human genetic diseases are nonsense
mutations that introduce a premature stop codon (PTC) into the protein-coding gene …

[HTML][HTML] Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity

M Kurzawa-Akanbi, N Tzoumas… - Progress in Retinal and …, 2024 - Elsevier
Blindness poses a growing global challenge, with approximately 26% of cases attributed to
degenerative retinal diseases. While gene therapy, optogenetic tools, photosensitive …

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

C Sanjurjo-Soriano, C Jimenez-Medina… - Human Genetics and …, 2023 - cell.com
There is an emblematic clinical and genetic heterogeneity associated with inherited retinal
diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy …

Emerging personalized opportunities for enhancing translational readthrough in rare genetic diseases and beyond

RN Wagner, M Wießner, A Friedrich… - International journal of …, 2023 - mdpi.com
Nonsense mutations trigger premature translation termination and often give rise to
prevalent and rare genetic diseases. Consequently, the pharmacological suppression of an …

Retinal organoids from an AIPL1 CRISPR/Cas9 knockout Cell line successfully recapitulate the molecular features of LCA4 disease

PRL Perdigão, B Ollington, H Sai, A Leung… - International Journal of …, 2023 - mdpi.com
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is expressed in photoreceptors
where it facilitates the assembly of phosphodiesterase 6 (PDE6) which hydrolyses cGMP …

[HTML][HTML] A Comparative Analysis of Models for AAV-Mediated Gene Therapy for Inherited Retinal Diseases

A Alsalloum, E Gornostal, N Mingaleva, R Pavlov… - Cells, 2024 - mdpi.com
Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders leading to
progressive degeneration of the retina due to mutations in over 280 genes. This review …

Small‐Molecule Regulators for Gene Switches to Program Mammalian Cell Behaviour

M Mansouri, M Fussenegger - ChemBioChem, 2024 - Wiley Online Library
Synthetic or natural small molecules have been extensively employed as trigger signals or
inducers to regulate engineered gene circuits introduced into living cells in order to obtain …

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Y Liang, X Sun, C Duan, S Tang, J Chen - Stem Cell Research & Therapy, 2023 - Springer
Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration
and impose a considerable economic burden on patients and society, making efforts to cure …

Human retinal organoids in therapeutic discovery: a review of applications

L Cheng, MH Kuehn - Human iPSC-derived Disease Models for Drug …, 2023 - Springer
Human embryonic stem cells (hESCs)-and induced pluripotent stem cells (hiPSCs)-derived
retinal organoids (ROs) are three-dimensional laminar structures that recapitulate the …

Application of eye organoids in the study of eye diseases

S Ma, Y Xie, Q Wang, S Fu, H Wu - Experimental Eye Research, 2024 - Elsevier
The eyes are one of the most important sensory organs in the human body. Currently,
diseases such as limbal stem cell deficiency, cataract, retinitis pigmentosa and dry eye …