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Autor
Ardan, Taras 1 Arnold, Vanessa 1 Auch, Hannah 1 Blutke, Andreas 1 Brymova, Anna 1 Bähr, Andrea 1 Dhom, Georg 1 Dlugaiczyk, Julia 1 Döring, Anna 1 Eckardt, Christian 1 Ellederova, Zdenka 1 Fadl, Janet 1 Fischer, Andrea 1 Fischer, M Dominik 1 Grotz, Sophia 1 Hitzl, Wolfgang 1 Kessler, Barbara 1 Klein, Joshua 1 Klymiuk, Nikolai 1 Kurome, Mayuko 1
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Pracoviště
Biostatistics and Data Science Parace... 1 Center for Innovative Medical Models ... 1 Centre for Ophthalmology University E... 1 Chair of Molecular Animal Breeding an... 1 Department of Otorhinolaryngology Hea... 1 Faculty of Biology LMU Munich Planegg... 1 Grousbeck Gene Therapy Center Mass Ey... 1 Institute for Ophthalmic Research Cen... 1 Institute of Animal Physiology and Ge... 1 Institute of Developmental Biology an... 1 Institute of Experimental Genetics He... 1 Institute of Experimental Medicine Cz... 1 Institute of Molecular Physiology Cil... 1 Institute of Molecular Physiology Mol... 1 Large Animal Models in Cardiovascular... 1 Nuffield Laboratory of Ophthalmology ... 1 Ophthalmology Clinic University Hospi... 1 Oxford Eye Hospital Oxford University... 1 Veterinary Faculty Small Animal Clini... 1
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Autor
Ardan, Taras 1 Arnold, Vanessa 1 Auch, Hannah 1 Blutke, Andreas 1 Brymova, Anna 1 Bähr, Andrea 1 Dhom, Georg 1 Dlugaiczyk, Julia 1 Döring, Anna 1 Eckardt, Christian 1 Ellederova, Zdenka 1 Fadl, Janet 1 Fischer, Andrea 1 Fischer, M Dominik 1 Grotz, Sophia 1 Hitzl, Wolfgang 1 Kessler, Barbara 1 Klein, Joshua 1 Klymiuk, Nikolai 1 Kurome, Mayuko 1
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Pracoviště
Biostatistics and Data Science Parace... 1 Center for Innovative Medical Models ... 1 Centre for Ophthalmology University E... 1 Chair of Molecular Animal Breeding an... 1 Department of Otorhinolaryngology Hea... 1 Faculty of Biology LMU Munich Planegg... 1 Grousbeck Gene Therapy Center Mass Ey... 1 Institute for Ophthalmic Research Cen... 1 Institute of Animal Physiology and Ge... 1 Institute of Developmental Biology an... 1 Institute of Experimental Genetics He... 1 Institute of Experimental Medicine Cz... 1 Institute of Molecular Physiology Cil... 1 Institute of Molecular Physiology Mol... 1 Large Animal Models in Cardiovascular... 1 Nuffield Laboratory of Ophthalmology ... 1 Ophthalmology Clinic University Hospi... 1 Oxford Eye Hospital Oxford University... 1 Veterinary Faculty Small Animal Clini... 1
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Directory of Open Access Journals
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ROAD: Directory of Open Access Scholarly Resources
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PubMed
35254721
DOI
10.15252/emmm.202114817
Knihovny.cz E-zdroje
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.
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