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Document type:
Article; Journal Article
Author(s):
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; St...     »
Title:
Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.
Abstract:
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...     »
Journal title abbreviation:
EMBO Mol Med
Year:
2022
Journal volume:
14
Journal issue:
4
Fulltext / DOI:
doi:10.15252/emmm.202114817
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/35254721
Print-ISSN:
1757-4676
TUM Institution:
Klinik und Poliklinik für Innere Medizin I, Kardiologie; Professur für Kardiovaskuläre Translation in Großtiermodellen (Prof. Klymiuk)
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