Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

Usher syndrome (USH) is the most common form of hereditary deaf-blindness in humans. USH is a complex genetic disorder, assigned to three clinical subtypes differing in onset, course and severity, with USH1 being the most severe. Rodent USH1 models do not reflect the ocular phenotype observed in hum...

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Detalles Bibliográficos
Autores principales: Nagel-Wolfrum, Kerstin, Fadl, Benjamin R, Becker, Mirjana M, Wunderlich, Kirsten A, Schäfer, Jessica, Sturm, Daniel, Fritze, Jacques, Gür, Burcu, Kaplan, Lew, Andreani, Tommaso, Goldmann, Tobias, Brooks, Matthew, Starostik, Margaret R, Lokhande, Anagha, Apel, Melissa, Fath, Karl R, Stingl, Katarina, Kohl, Susanne, DeAngelis, Margaret M, Schlötzer-Schrehardt, Ursula, Kim, Ivana K, Owen, Leah A, Vetter, Jan M, Pfeiffer, Norbert, Andrade-Navarro, Miguel A, Grosche, Antje, Swaroop, Anand, Wolfrum, Uwe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851744/
https://www.ncbi.nlm.nih.gov/pubmed/35997788
http://dx.doi.org/10.1093/hmg/ddac211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851744/
https://www.ncbi.nlm.nih.gov/pubmed/35997788
http://dx.doi.org/10.1093/hmg/ddac211

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