Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme-Reference-Cited by-同舟云学术

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

Published:2023-05-22 Issue:10 Volume:8 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Faber Siebren^ORCID,Mercey Olivier,Junger Katrin^ORCID,Garanto Alejandro^ORCID,May-Simera Helen,Ueffing Marius,Collin Rob W.J.,Boldt Karsten^ORCID,Guichard Paul^ORCID,Hamel Virginie^ORCID,Roepman Ronald^ORCID

Funder

Landelijke Stichting voor Blinden en Slechtzienden

Stichting Retina Nederland Fonds

Stichting Beheer Het Schild

Gelderse Blindenstichting

Stichting tot Verbetering van het Lot der Blinden ‘Het Lot’

Rotterdamse Stichting Blindenbelangen

the Stichting voor gehandicapte kinderen Dowilvo

the Foundation Fighting Blindness, USA

the Swiss National Foundation

the Pro Visu Foundation

the Tistou & Charlotte Kerstan Stiftung

the Netherlands Organisation for Health Research and Development

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://insight.jci.org/articles/view/169162/files/pdf

Reference46 articles.

1. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

2. Leber congenital amaurosis: Genes, proteins and disease mechanisms

3. Topography of the layer of rods and cones in the human retina;Osterberg;Acta Ophthalmol Suppl,1935

4. Cilia - The sensory antennae in the eye

5. A Proteomic Analysis of Human Cilia

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