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

Related publications (29)

Neuroprotection in the Retina: From Preventing Inflammatory Cell Death to Promoting Vascular Stability in the Central Nervous System

Glaucoma is one of the leading causes of irreversible blindness worldwide. Glaucoma is defined clinically as the presence of optic nerve head (ONH) degeneration and progressive loss of retinal ganglion cells (RGCs). Intra-ocular pressure (IOP) has been con ...

EPFL2024

Clinically compliant cryopreservation of differentiated retinal pigment epithelial cells

Cheng Zhao, Gioele La Manno, Alex Russell Lederer

Background aims: Age-related macular degeneration (AMD) is the most common cause of blindness in elderly patients within developed countries, affecting more than 190 million worldwide. In AMD, the retinal pigment epithelial (RPE) cell layer progressively d ...

Elsevier Sci Ltd2024

Prolamins' 3D structure: A new insight into protein modeling using the language of numbers and shapes

Niloufar Sharif

This study combined protein modeling methods to generate the prolamins' fractions as precise as possible. Hence, gliadins, zeins, kafirins, hordeins, secalins, avenins and oryzins were generated based on their characteristics and disulfide mapping. Finding ...

Elsevier Sci Ltd2024

From Sequence to Dynamics to Function: Computational Design of Allostery and Ligand Selectivity in G-Protein Coupled Receptors

Mahdi Hijazi

The phenomenon of allostery, a general property in proteins that has been heralded as "the second secret of life" remains elusive to our understanding and even more challenging to incorporate into protein design. One example of allosteric proteins with gre ...

EPFL2024

Neuronal migration prevents spatial competition in retinal morphogenesis

Martin Weigert

The concomitant occurrence of tissue growth and organization is a hallmark of organismal development(1-3). This often means that proliferating and differentiating cells are found at the same time in a continuously changing tissue environment. How cells ada ...

NATURE PORTFOLIO2023

Influence of macular pigment on the sensitivity to discomfort glare from daylight

Marilyne Andersen, Jan Wienold, Sneha Jain

Understanding the factors that influence the human perception of glare is necessary to properly address glare risks in buildings and achieve comfortable visual environments, especially in the workplace. Yet large inter-individual variabilities in glare per ...

Nature Research2023

Colloidal self-assembly of soft neural interfaces from injectable photovoltaic microdevices

Mahmut Selman Sakar, Zhangjun Huang, Murat Kaynak, Haiyan Jia

Biomimetic retinas with a wide field of view and high resolution are in demand for neuroprosthetics and robot vision. Conventional neural prostheses are manufactured outside the application area and implanted as a complete device using invasive surgery. He ...

2023

A Geometric Transformer for Structural Biology: Development and Applications of the Protein Structure Transformer

Lucien Fabrice Krapp

Proteins, the central building blocks of life, play pivotal roles in nearly every biological function. To do so, these macromolecular structures interact with their surrounding environment in complex ways, leading to diverse functional behaviors. The predi ...

EPFL2023

Impact of phylogeny on structural contact inference from protein sequence data

Anne-Florence Raphaëlle Bitbol, Umberto Lupo, Nicola Dietler

Local and global inference methods have been developed to infer structural contacts from multiple sequence alignments of homologous proteins. They rely on correlations in amino acid usage at contacting sites. Because homologous proteins share a common ance ...

ROYAL SOC2023

Discomfort glare from daylight: Influence of transmitted color and the eye's macular pigment

Sneha Jain

Designing architectural façades that allow sufficient daylight to create visually comfortable and pleasant environments is a challenging aspect of building design. It requires accounting for visual comfort and discomfort glare risks and understanding the f ...

EPFL2023

Incomplete Recovery of Zebrafish Retina Following Cryoinjury

Dylan Lawless

Zebrafish show an extraordinary potential for regeneration in several organs from fins to central nervous system. Most impressively, the outcome of an injury results in a near perfect regeneration and a full functional recovery. Indeed, among the various i ...

MDPI2022

In Vivo Retinal Pigment Epithelium Imaging using Transscleral Optical Imaging in Healthy Eyes

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Mathieu Künzi, Rémy Jean Daniel Dornier

Objective: To image healthy retinal pigment epithelial (RPE) cells in vivo using Transscleral OPtical Imaging (TOPI) and to analyze statistics of RPE cell features as a function of age, axial length (AL), and eccentricity. Design: Single-center, explorator ...

ELSEVIER2022

POLYRETINA restores light responses in vivo in blind Gottingen minipigs

Golnaz Sherafatipour, Diego Ghezzi, Marta Jole Ildelfonsa Airaghi Leccardi, Paola Vagni, Elodie Geneviève Zollinger, Charles-Henri Puncho Jérôme Vila

Retinal prostheses hold potential for artificial vision in blind people. Here, authors show that POLYRETINA, a large and high-density photovoltaic epiretinal device, restores light-evoked cortical responses in blind Gottingen minipigs at safe irradiance le ...

Nature Portfolio2022

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

Correlations from structure and phylogeny combine constructively in the inference of protein partners from sequences

Anne-Florence Raphaëlle Bitbol, Nicola Dietler

Inferring protein-protein interactions from sequences is an important task in computational biology. Recent methods based on Direct Coupling Analysis (DCA) or Mutual Information (MI) allow to find interaction partners among paralogs of two protein families ...

Public Library Science2022

A generic framework for hierarchical de novo protein design

Bruno Emanuel Ferreira De Sousa Correia, Jaume Bonet Martinez, Zander Harteveld, Fabian Sesterhenn, Stéphane Rosset, Che Yang

De novo protein design enables the exploration of novel sequences and structures absent from the natural protein universe. De novo design also stands as a stringent test for our understanding of the underlying physical principles of protein folding and may ...

National Academy of Sciences2022

Continuous Simulation Data Stream: A dynamical timescale-dependent output scheme for simulations

Loïc Hausammann

Exa-scale simulations are on the horizon but almost no new design for the output has been proposed in recent years. In simulations using individual time steps, the traditional snapshots are over resolving particles/cells with large time steps and are under ...

ELSEVIER2022

Extracting phylogenetic dimensions of coevolution reveals hidden functional signals

Anne-Florence Raphaëlle Bitbol

Despite the structural and functional information contained in the statistical coupling between pairs of residues in a protein, coevolution associated with function is often obscured by artifactual signals such as genetic drift, which shapes a protein's ph ...

Nature Portfolio2022

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

Photovoltaic retinal prosthesis restores high-resolution responses to single-pixel stimulation in blind retinas

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

Retinal prostheses hold the promise of restoring vision in totally blind people. However, a decade of clinical trials highlighted quantitative limitations hampering the possibility of reaching this goal. A key challenge in retinal stimulation is to indepen ...

2021