دورية أكاديمية
Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes
| العنوان: | Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes |
|---|---|
| المؤلفون: | Grotz, Sophia, Schäfer, Jessica, Wunderlich, Kirsten A, Ellederova, Zdenka, Auch, Hannah, Bähr, Andrea, Runa‐Vochozkova, Petra, Fadl, Janet, Arnold, Vanessa, Ardan, Taras, Veith, Miroslav, Santamaria, Gianluca, Dhom, Georg, Hitzl, Wolfgang, Kessler, Barbara, Eckardt, Christian, Klein, Joshua, Brymova, Anna, Linnert, Joshua, Kurome, Mayuko, Zakharchenko, Valeri, Fischer, Andrea, Blutke, Andreas, Döring, Anna, Suchankova, Stepanka, Popelar, Jiri, Rodríguez‐Bocanegra, Eduardo, Dlugaiczyk, Julia, Straka, Hans, May‐Simera, Helen |
| المصدر: | Grotz, Sophia; Schäfer, Jessica; Wunderlich, Kirsten A; Ellederova, Zdenka; Auch, Hannah; Bähr, Andrea; Runa‐Vochozkova, Petra; Fadl, Janet; Arnold, Vanessa; Ardan, Taras; Veith, Miroslav; Santamaria, Gianluca; Dhom, Georg; Hitzl, Wolfgang; Kessler, Barbara; Eckardt, Christian; Klein, Joshua; Brymova, Anna; Linnert, Joshua; Kurome, Mayuko; Zakharchenko, Valeri; Fischer, Andrea; Blutke, Andreas; Döring, Anna; Suchankova, Stepanka; Popelar, Jiri; Rodríguez‐Bocanegra, Eduardo; Dlugaiczyk, Julia; Straka, Hans; May‐Simera, Helen; et al (2022). Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes. EMBO Molecular Medicine, 14(4):e14817. |
| بيانات النشر: | Wiley Open Access |
| سنة النشر: | 2022 |
| المجموعة: | University of Zurich (UZH): ZORA (Zurich Open Repository and Archive |
| مصطلحات موضوعية: | Clinic for Otorhinolaryngology, 610 Medicine & health, Molecular Medicine |
| الوصف: | Usher syndrome (USH) is the most common form of monogenic deaf-blindness. Loss of vision is untreatable and there are no suitable animal models for testing therapeutic strategies of the ocular constituent of USH, so far. By introducing a human mutation into the harmonin-encoding USH1C gene in pigs, we generated the first translational animal model for USH type 1 with characteristic hearing defect, vestibular dysfunction, and visual impairment. Changes in photoreceptor architecture, quantitative motion analysis, and electroretinography were characteristics of the reduced retinal virtue in USH1C pigs. Fibroblasts from USH1C pigs or USH1C patients showed significantly elongated primary cilia, confirming USH as a true and general ciliopathy. Primary cells also proved their capacity for assessing the therapeutic potential of CRISPR/Cas-mediated gene repair or gene therapy in vitro. AAV-based delivery of harmonin into the eye of USH1C pigs indicated therapeutic efficacy in vivo. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1757-4676 |
| العلاقة: | https://www.zora.uzh.ch/id/eprint/226341/1/ZORA_226341.pdfTest; info:pmid/35254721; urn:issn:1757-4676 |
| DOI: | 10.5167/uzh-226341 |
| DOI: | 10.15252/emmm.202114817 |
| الإتاحة: | https://doi.org/10.5167/uzh-22634110.15252/emmm.202114817Test https://www.zora.uzh.ch/id/eprint/226341Test/ https://www.zora.uzh.ch/id/eprint/226341/1/ZORA_226341.pdfTest |
| حقوق: | info:eu-repo/semantics/openAccess ; Creative Commons: Attribution 4.0 International (CC BY 4.0) ; http://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.32CB81CD |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 17574676 |
|---|---|
| DOI: | 10.5167/uzh-226341 |