Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants-Reference-Cited by-同舟云学术

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Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

Published:2024-03 Issue:1 Volume:35 Page:102113
ISSN:2162-2531
Container-title:Molecular Therapy - Nucleic Acids
language:en
Short-container-title:Molecular Therapy - Nucleic Acids

Author:

De Angeli Pietro^ORCID,Flores-Tufiño Arturo,Stingl Katarina,Kühlewein Laura,Roschi Eleonora,Wissinger Bernd,Kohl Susanne

Funder

Eberhard Karls Universität Tübingen

Horizon 2020 Marie Skłodowska-Curie Actions

Deutsches Zentrum für Neurodegenerative Erkrankungen

HORIZON EUROPE Marie Sklodowska-Curie Actions

Horizon 2020 Framework Programme

European Commission

Publisher

Elsevier BV

Subject

Drug Discovery,Molecular Medicine

Reference34 articles.

1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat. Genet.,1997

2. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR;Martínez-Mir;Nat. Genet.,1998

3. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy;Maugeri;Am. J. Hum. Genet.,2000

4. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options;Tanna;Br. J. Ophthalmol.,2017

5. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily;Illing;J. Biol. Chem.,1997

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Iso-Seq enables discovery of novel isoform variants in human retina at single cell resolution;2024-08-09

2. EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defects;2024-03-30

3. Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases;Current Issues in Molecular Biology;2024-02-05

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