[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 …

Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models

LP Pellissier, PM Quinn, CH Alves… - Human molecular …, 2015 - academic.oup.com
Mutations in the Crumbs-homologue-1 (CRB1) gene lead to severe recessive inherited
retinal dystrophies. Gene transfer therapy is the most promising cure for retinal dystrophies …

[HTML][HTML] AAV-CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model

TM Buck, RM Vos, CH Alves, J Wijnholds - Molecular Therapy-Methods & …, 2021 - cell.com
Loss of Crumbs homolog 1 (CRB1) or CRB2 proteins in Müller cells or photoreceptors in the
mouse retina results in a CRB dose-dependent retinal phenotype. In this study, we present a …

[HTML][HTML] Specific tools for targeting and expression in Müller glial cells

LP Pellissier, RM Hoek, RM Vos, WM Aartsen… - … Therapy-Methods & …, 2014 - cell.com
Despite their physiological roles, Müller glial cells are involved directly or indirectly in retinal
disease pathogenesis and are an interesting target for therapeutic approaches for retinal …

[PDF][PDF] Gene therapy of dominant CRX-Leber congenital amaurosis using patient stem cell-derived retinal organoids

K Kruczek, Z Qu, J Gentry, BR Fadl, L Gieser… - Stem Cell Reports, 2021 - cell.com
Mutations in the photoreceptor transcription factor gene cone-rod homeobox (CRX) lead to
distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber …

Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa

CH Alves, LP Pellissier, RM Vos… - Human molecular …, 2014 - academic.oup.com
In humans, the Crumbs homolog-1 (CRB1) gene is mutated in autosomal recessive Leber
congenital amaurosis and early-onset retinitis pigmentosa. In mammals, the Crumbs family …

[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 …

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] Targeted Ablation of Crb1 and Crb2 in Retinal Progenitor Cells Mimics Leber Congenital Amaurosis

LP Pellissier, CH Alves, PM Quinn, RM Vos… - PLoS …, 2013 - journals.plos.org
Development in the central nervous system is highly dependent on the regulation of the
switch from progenitor cell proliferation to differentiation, but the molecular and cellular …

A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1

SA van de Pavert, J Meuleman… - Journal of …, 2007 - Soc Neuroscience
Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal
dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (eg …