Article

Exon 13-skipped USH2A protein retains functional integrity in mice, suggesting an exo-skipping therapeutic approach to treat USH2A-associated disease

2020-02-04

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the USH2A gene are the most common cause of non-syndromic inherited retinal degeneration and Usher syndrome, which is characterized by congenital deafness and progressive vision loss. Development of a vector mediated therapy for USH2A -associated disease has been challenging due to its large size of coding sequence (~15.6kb). Therefore, there is an unmet need to develop alternativ...

Topics

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

Identifiers and source

Literature Corpus work: 9fbbf490-7810-5de5-9506-2e5faa2e3216
DOI: 10.1101/2020.02.04.934240

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Exon 13-skipped USH2A protein retains functional integrity in mice, suggesting an exo-skipping therapeutic approach to treat USH2A-associated diseaseDOI 10.1101/2020.02.04.934240Read

In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases.Semantic proximity Read

Pathogenesis and Treatment of Usher Syndrome Type IIA.Semantic proximity Read

[Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy].Semantic proximity Read

Disease mechanisms and gene therapy for Usher syndrome.Semantic proximity Read

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by mutations in <i>USH2A</i> exon 13Semantic proximity Read

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.Semantic proximity Read

AAV-mediated exon skipping therapy for Usher syndrome, type 2A.Semantic proximity Read

Expanding the options for therapeutic exon skipping as a future treatment for <i>USH2A</i> -associated disease by 3D structural modeling of newly formed hybrid domainsSemantic proximity Read

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.Semantic proximity Read

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial CellsSemantic proximity Read

Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A.Semantic proximity Read

Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.Semantic proximity Read