[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 …

[HTML][HTML] Organoids and organ chips in ophthalmology

N Manafi, F Shokri, K Achberger, M Hirayama… - The Ocular Surface, 2021 - Elsevier
Recent advances have driven the development of stem cell-derived, self-organizing, three-
dimensional miniature organs, termed organoids, which mimic different eye tissues …

[PDF][PDF] Human brain organoids assemble functionally integrated bilateral optic vesicles

E Gabriel, W Albanna, G Pasquini, A Ramani… - Cell Stem Cell, 2021 - cell.com
During embryogenesis, optic vesicles develop from the diencephalon via a multistep
process of organogenesis. Using induced pluripotent stem cell (iPSC)-derived human brain …

[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 …

[PDF][PDF] Human iPSC-derived retinas recapitulate the fetal CRB1 CRB2 complex formation and demonstrate that photoreceptors and Müller glia are targets of AAV5

PM Quinn, TM Buck, AA Mulder, C Ohonin, CH Alves… - Stem Cell Reports, 2019 - cell.com
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 …

[PDF][PDF] CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids

TM Buck, PMJ Quinn, LP Pellissier, AA Mulder… - Stem cell reports, 2023 - cell.com
CRB1 gene mutations can cause early-or late-onset retinitis pigmentosa, Leber congenital
amaurosis, or maculopathy. Recapitulating human CRB1 phenotypes in animal models has …

Affinity-controlled release of rod-derived cone viability factor enhances cone photoreceptor survival

CJ Teal, MT Ho, L Huo, H Harada, LC Bahlmann… - Acta Biomaterialia, 2023 - Elsevier
Retinitis pigmentosa (RP) is a group of genetic diseases that results in rod photoreceptor
cell degeneration, which subsequently leads to cone photoreceptor cell death, impaired …

[HTML][HTML] Characterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/− retinal organoids

N Boon, X Lu, CA Andriessen, M Orlovà… - … Therapy-Methods & …, 2023 - cell.com
The majority of patients with mutations in CRB1 develop either early-onset retinitis
pigmentosa as young children or Leber congenital amaurosis as newborns. The cause for …

Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype

PM Quinn, AA Mulder, C Henrique Alves… - Human Molecular …, 2019 - academic.oup.com
Variations in the human Crumbs homolog-1 (CRB1) gene lead to an array of retinal
dystrophies including early onset of retinitis pigmentosa (RP) and Leber congenital …

[HTML][HTML] Retinogenesis of the human fetal retina: an apical polarity perspective

PMJ Quinn, J Wijnholds - Genes, 2019 - mdpi.com
The Crumbs complex has prominent roles in the control of apical cell polarity, in the coupling
of cell density sensing to downstream cell signaling pathways, and in regulating junctional …