Publications related to Mutations in NR2E3 Can Cause Dominant or Recessive Retinal Degenerations in the Same Family

Related publications (25)

Molecular profiling of stem cell-derived retinal pigment epithelial cell differentiation established for clinical translation

Gioele La Manno, Irina Khven, Alex Russell Lederer

Human embryonic stem cell-derived retinal pigment epithelial cells (hESC-RPE) are a promising cell source to treat age-related macular degeneration (AMD). Despite several ongoing clinical studies, a detailed mapping of transient cellular states during in v ...

CELL PRESS2022

Photovoltaic stimulation of retinal microcircuit for vision restoration

Naïg Aurelia Ludmilla Chenais

Sight restoration through retinal prostheses was still a mere dream a century ago. Current challenges are even greater: providing a quantitatively and qualitatively useful artificial vision to late blind patients. Existing approaches all face engineering a ...

EPFL2021

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

Development of a new visual prosthesis for preclinical studies on artificial vision

Marta Jole Ildelfonsa Airaghi Leccardi

The technological evolution in materials science and microengineering favored the production of advanced visual prostheses useful for fighting blindness and to improve patients quality of life. Visual prostheses aim at replacing lost visual functions by ar ...

EPFL2020

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

Diego Ghezzi, Naïg Aurelia Ludmilla Chenais, Paola Vagni

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

Capacitive-like photovoltaic epiretinal stimulation enhances and narrows the network-mediated activity of retinal ganglion cells by recruiting the lateral inhibitory network

Diego Ghezzi, Marta Jole Ildelfonsa Airaghi Leccardi, Naïg Aurelia Ludmilla Chenais

Photovoltaic retinal prostheses theoretically offer the possibility of a standalone high-resolution electrical stimulation of the retina. However, achieving focused epiretinal stimulation is particularly challenging, because of axonal activation and electr ...

2019

Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness

PurposeTo evaluate the relationship between the peripapillary metabolic alterations [retinal vessel Oximetry (RO)] and the structural findings [retinal vessel diameter and retinal nerve fibre layer thickness (RNFL)] in patients with inherited retinal dystr ...

Wiley2017

Dual optical control and mechanistic insights into photoswitchable group II and III metabotropic glutamate receptors

Johannes Broichhagen

G protein-coupled receptor (GPCR) signaling occurs in complex spatiotemporal patterns that are difficult to probe using standard pharmacological and genetic approaches. A powerful approach for dissecting GPCRs is to use light-controlled pharmacological age ...

National Academy of Sciences2017

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominat ...

Oxford University Press2016

Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain

Nicolas Jean Philippe Guex

NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (L ...

Wiley-Blackwell2015

LRH-1 mediates anti-inflammatory and antifungal phenotype of IL-13-activated macrophages through the PPAR gamma ligand synthesis

Kristina Schoonjans

Liver receptor homologue-1 (LRH-1) is a nuclear receptor involved in the repression of inflammatory processes in the hepatointestinal tract. Here we report that LRH-1 is expressed in macrophages and induced by the Th2 cytokine IL-13 via a mechanism involvi ...

Nature Publishing Group2015

Functional analysis of NR2E3 in retinal degenerations

The vertebrate retina is a model system of the development of the central nervous system. Because of its rapid development and the availability of many molecular tools the zebrafish is an established model of retinal development. Development and maintenanc ...

EPFL2014

Retinal vessel oxygen saturation and its correlation with structural changes in retinitis pigmentosa

Purpose: To study the influence of retinal structural changes on oxygen saturation in retinitis pigmentosa (RP) patients. Methods: Oximetry measurements were performed on 21 eyes of 11 RP patients and compared to 24 eyes of 12 controls. Retinal oxygen satu ...

Wiley-Blackwell2014

Long-term in vivo impedance changes of subretinal microelectrodes implanted in dystrophic P23H rats

Philippe Renaud, Olof Pontus Linderholm

Retinal prostheses are being developed to restore vision in blind patients with photoreceptor degeneration. Electrodes arrays were subretinally implanted in transgenic P23H rats with their photoreceptors degenerated. Electrical stability of the implants wa ...

Wichtig Editore2013

Early apoptosis of rod photoreceptors in Rpe65(-/-) mice is associated with the upregulated expression of lysosomal-mediated autophagic genes

RPE65-related Leber's congenital amaurosis (LCA) is a rod-cone dystrophy whose clinical outcome is mainly attributed to the loss of rod photoreceptors followed by cone degeneration. Pathogenesis in Rpe65-/- mice is characterized by a slow and progressive d ...

2012

The Corepressor NCoR1 Antagonizes PGC-1α and Estrogen-Related Receptor α in the Regulation of Skeletal Muscle Function and Oxidative Metabolism

Johan Auwerx

Skeletal muscle exhibits a high plasticity and accordingly can quickly adapt to different physiological and pathological stimuli by changing its phenotype largely through diverse epigenetic mechanisms. The nuclear receptor corepressor 1 (NCoR1) has the abi ...

Amer Soc Microbiology2012

Probing Odorant-Mediated Receptor Activation

Olivia Baud

Molecular interactions of odorants with their olfactory receptors (ORs) are of central importance for the mammalian olfactory system to detect and discriminate a large variety of odors with a limited set of receptors. How a particular OR binds and distingu ...

EPFL2012

Altered Expression of the Transcription Factor Mef2c during Retinal Degeneration in Rpe65(-/-) Mice

PURPOSE. To investigate the role of the myocyte enhancer factor 2 (Mef2) transcription factor family in retinal diseases, Mef2c expression was assessed during retinal degeneration in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA). Mef2c-d ...

2011

Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina

The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated by genes such as nuclear hormone receptors. The nucle ...

Public Library of Science2011

Analysis of Factors Affecting the Performance of Retinal Prostheses Using Finite Element Modelling of Electric Field Distribution in the Retina

Sri Harsha Kasi Raj

This dissertation proposes a computational framework targeted at improving the design of currently employed retinal prostheses. The framework was used for analysing factors impacting the performance of prostheses in terms of electrical stimulation for reti ...

EPFL2011