A defective structural zipper in photoreceptors causes inherited blindness
Open Access
- 17 June 2022
- journal article
- editorial
- Published by Public Library of Science (PLoS) in PLoS Biology
- Vol. 20 (6), e3001672
- https://doi.org/10.1371/journal.pbio.3001672
Abstract
Being able to see the beauty of this world is a wonderful thing unfortunately unavailable to people with inherited blindness. In this issue of PLOS Biology, Mercey and colleagues present optimized expansion microscopy for retinal tissue, which represents a huge step forward in our ability to study these blinding conditions.Funding Information
- Landelijke Stichting voor Blinden en Slechtzienden (Uitzicht 2016/2017-22)
- Stichting Retina Fonds (Uitzicht 2016/2017-22)
- Stichting Beheer Het Schild (Uitzicht 2016/2017-22)
- Stichting Blinden-Penning (Uitzicht 2016/2017-22)
- Stichting Steunfonds Uitzicht (Uitzicht 2016/2017-22)
- Gelderse Blinden Stichting
- Rotterdamse Stichting Blindenbelangen
- Stichting tot Verbetering van het Lot der Blinden 'Het Lot'
- the Stichting voor gehandicapte kinderen Dowilvo
- ZonMw (#91216051)
- Foundation Fighting Blindness (PPA-0717-0719-RAD)
- Foundation Fighting Blindness (BR-CMM-0720-0789-RAD)
This publication has 11 references indexed in Scilit:
- Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290JCI Insight, 2021
- PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationProceedings of the National Academy of Sciences of the United States of America, 2020
- A helical inner scaffold provides a structural basis for centriole cohesionScience Advances, 2020
- SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting ciliumThe Journal of cell biology, 2018
- Cilia - The sensory antennae in the eyeProgress in Retinal and Eye Research, 2017
- Expansion microscopyScience, 2015
- A Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor DegenerationThe American Journal of Pathology, 2014
- Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degenerationHuman Molecular Genetics, 2014
- The role of primary cilia in the development and disease of the retinaOrganogenesis, 2013
- Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisNature Genetics, 2007