[HTML][HTML] Recombinant adeno-associated viral vectors (rAAV)-vector elements in ocular gene therapy clinical trials and transgene expression and bioactivity assays
TM Buck, J Wijnholds - International journal of molecular sciences, 2020 - mdpi.com
Inherited retinal dystrophies and optic neuropathies cause chronic disabling loss of visual
function. The development of recombinant adeno-associated viral vectors (rAAV) gene …
function. The development of recombinant adeno-associated viral vectors (rAAV) gene …
[HTML][HTML] AAV targeting of glial cell types in the central and peripheral nervous system and relevance to human gene therapy
Different glial cell types are found throughout the central (CNS) and peripheral nervous
system (PNS), where they have important functions. These cell types are also involved in …
system (PNS), where they have important functions. These cell types are also involved in …
[HTML][HTML] Inherited retinal degenerations: current landscape and knowledge gaps
Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually
debilitating diseases that can lead to blindness in which mutations in genes that are critical …
debilitating diseases that can lead to blindness in which mutations in genes that are critical …
[PDF][PDF] AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype
N Boon, X Lu, CA Andriessen, I Moustakas, TM Buck… - Stem cell reports, 2023 - cell.com
Retinitis pigmentosa and Leber congenital amaurosis are inherited retinal dystrophies that
can be caused by mutations in the Crumbs homolog 1 (CRB1) gene. CRB1 is required for …
can be caused by mutations in the Crumbs homolog 1 (CRB1) gene. CRB1 is required for …
[HTML][HTML] Improving adeno-associated viral (AAV) vector-mediated transgene expression in retinal ganglion cells: comparison of five promoters
Recombinant adeno-associated viral vectors (AAVs) are an effective system for gene
transfer. AAV serotype 2 (AAV2) is commonly used to deliver transgenes to retinal ganglion …
transfer. AAV serotype 2 (AAV2) is commonly used to deliver transgenes to retinal ganglion …
[PDF][PDF] Human iPSC-derived retinas recapitulate the fetal CRB1 CRB2 complex formation and demonstrate that photoreceptors and Müller glia are targets of AAV5
Human retinal organoids from induced pluripotent stem cells (hiPSCs) can be used to
confirm the localization of proteins in retinal cell types and to test transduction and …
confirm the localization of proteins in retinal cell types and to test transduction and …
[HTML][HTML] Organoids and organ chips in ophthalmology
Recent advances have driven the development of stem cell-derived, self-organizing, three-
dimensional miniature organs, termed organoids, which mimic different eye tissues …
dimensional miniature organs, termed organoids, which mimic different eye tissues …
Genotypic and phenotypic characteristics of CRB1-associated retinal dystrophies: a long-term follow-up study
M Talib, MJ van Schooneveld, MM van Genderen… - Ophthalmology, 2017 - Elsevier
Purpose To describe the phenotype, long-term clinical course, clinical variability, and
genotype of patients with CRB1-associated retinal dystrophies. Design Retrospective cohort …
genotype of patients with CRB1-associated retinal dystrophies. Design Retrospective cohort …
[HTML][HTML] CRB1-associated retinal dystrophies: genetics, clinical characteristics, and natural history
MD Varela, M Georgiou, Y Alswaiti, J Kabbani… - American Journal of …, 2023 - Elsevier
PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
[HTML][HTML] Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked
clinical and genetic heterogeneity. Common presentations among these disorders include …
clinical and genetic heterogeneity. Common presentations among these disorders include …