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Altered expression of beta-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knockout mouse model of Leber's congenital amaurosis

Related publications (33)

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In vivo evaluation of gene editing and prosthetic strategies to restore vision in small and large animal models of retinal degeneration

Paola Vagni

Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...

EPFL2020

Fully automated detection, segmentation, and analysis of in vivo RPE single cells

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Florentino Luciano Caetano Dos Santos

Objective To develop a fully automated method of retinal pigmented epithelium (RPE) cells detection, segmentation and analysis based on in vivo cellular resolution images obtained with the transscleral optical phase imaging method (TOPI). Methods Fourteen ...

NATURE PUBLISHING GROUP2020

Transscleral optical phase imaging of the human retina

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Dino Carpentras

In vivo observation of the human retina at the cellular level is crucial to detect the first signs of retinal diseases and properly treat them. Despite the phenomenal advances in adaptive optics systems, clinical imaging of many retinal cells is still elus ...

NATURE PUBLISHING GROUP2020

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration

Diego Ghezzi, Paola Vagni, Naïg Aurelia Ludmilla Chenais, Tommaso Marchetti

Inherited retinal dystrophies (IRDs) are a large and heterogeneous group of degenerative diseases caused by mutations in various genes. Given the favorable anatomical and immunological characteristics of the eye, gene therapy holds great potential for thei ...

2019

Gene editing in photoreceptor progenitors prevents visual function loss in a mouse model of retinal degeneration

Diego Ghezzi, Paola Vagni

Purpose:Currently, there is no known cure for Retinitis pigmentosa (RP). Even if some treatments can slow down the progression of the disease, none of them can effectively stop retinal degeneration. We exploited the possibility of an early intervention in ...

2017

Replacement strategies arise as promising approaches in case of inherited retinal dystrophies leading to blindness. A fully organic retinal prosthesis made of conjugated polymers layered onto a silk fibroin substrate is engineered. First, the biophysical a ...

Wiley-VCH Verlag2016

BIGH3 is a secreted protein, part of the extracellular matrix where it interacts with collagen and integrins on the cell surface. BIGH3 can play opposing roles in cancer, acting as either tumor suppressor or promoter, and its mutations lead to different fo ...

Academic Press Ltd- Elsevier Science Ltd2015

Sight restoration after retinal degeneration still represents an unmet goal. Since therapeutic strategies increasingly require interdisciplinary competencies, photoreceptor degeneration is attracting several research areas, including: life science, materia ...

2015

Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participa ...

Bmj Publishing Group2014

Purpose: Sight restoration is one of the new frontiers for prosthetic devices that enable the electrical stimulation of neurons. In particular, diseases affecting the retinal pigment epithelium and photoreceptors but preserve the inner retinal layers are p ...

2014