Article

Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopy

2023-01-18

Abstract excerpt

Leber Congenital Amaurosis (LCA) is a group of Inherited Retinal Diseases (IRDs) characterized by the early onset and rapid loss of photoreceptor cells. Despite the discovery of a growing number of genes associated with this disease, the molecular mechanisms of photoreceptor cell degeneration of most LCA subtypes remain poorly understood. Here, using retina-specific affinity proteomics combined with Ultrastructure...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1954946b-43e9-5ed9-bca2-b714d4d6e3cf
DOI: 10.1101/2023.01.17.524360

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopyDOI 10.1101/2023.01.17.524360Read

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

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital BlindnessSemantic proximity Read

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoidsSemantic proximity Read

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.Semantic proximity Read

Molecular genetics of Leber congenital amaurosis.Semantic proximity Read

Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Semantic proximity Read

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.Semantic proximity Read

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.Semantic proximity Read

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsSemantic proximity Read

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisSemantic proximity Read

Glutamylation imbalance leads to photoreceptor cell degenerationSemantic proximity Read