Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes

Autor: Sophia Grotz, Jessica Schäfer, Kirsten A Wunderlich, Zdenka Ellederova, Hannah Auch, Andrea Bähr, Petra Runa‐Vochozkova, Janet Fadl, Vanessa Arnold, Taras Ardan, Miroslav Veith, Gianluca Santamaria, Georg Dhom, Wolfgang Hitzl, Barbara Kessler, Christian Eckardt, Joshua Klein, Anna Brymova, Joshua Linnert, Mayuko Kurome, Valeri Zakharchenko, Andrea Fischer, Andreas Blutke, Anna Döring, Stepanka Suchankova, Jiri Popelar, Eduardo Rodríguez‐Bocanegra, Julia Dlugaiczyk, Hans Straka, Helen May‐Simera, Weiwei Wang, Karl‐Ludwig Laugwitz, Luk H Vandenberghe, Eckhard Wolf, Kerstin Nagel‐Wolfrum, Tobias Peters, Jan Motlik, M Dominik Fischer, Uwe Wolfrum, Nikolai Klymiuk

Publikováno v: EMBO Molecular Medicine, Vol 14, Iss 4, Pp 1-24 (2022)

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 h

Externí odkaz: https://doaj.org/article/f0ba22f95e7b4b36b03173d767e7f90f

Cell-Type-Specific Complement Expression in the Healthy and Diseased Retina

Autor: Diana Pauly, Divyansh Agarwal, Nicholas Dana, Nicole Schäfer, Josef Biber, Kirsten A. Wunderlich, Yassin Jabri, Tobias Straub, Nancy R. Zhang, Avneesh K. Gautam, Bernhard H.F. Weber, Stefanie M. Hauck, Mijin Kim, Christine A. Curcio, Dwight Stambolian, Mingyao Li, Antje Grosche

Publikováno v: Cell Reports, Vol 29, Iss 9, Pp 2835-2848.e4 (2019)

Summary: Complement dysregulation is a feature of many retinal diseases, yet mechanistic understanding at the cellular level is limited. Given this knowledge gap about which retinal cells express complement, we performed single-cell RNA sequencing on

Externí odkaz: https://doaj.org/article/bac62f836d3541a2a490fbcf404c3aeb

Retinal regions shape human and murine Müller cell proteome profile and functionality

Autor: Lew Kaplan, Corinne Drexler, Anna M. Pfaller, Santra Brenna, Kirsten A. Wunderlich, Andrea Dimitracopoulos, Juliane Merl‐Pham, Maria‐Theresa Perez, Ursula Schlötzer‐Schrehardt, Volker Enzmann, Marijana Samardzija, Berta Puig, Peter Fuchs, Kristian Franze, Stefanie M. Hauck, Antje Grosche

Publikováno v: Glia 71, 391-414 (2023)
Kaplan, Lew; Drexler, Corinne; Pfaller, Anna M; Brenna, Santra; Wunderlich, Kirsten A; Dimitracopoulos, Andrea; Merl-Pham, Juliane; Perez, Maria-Theresa; Schlötzer-Schrehardt, Ursula; Enzmann, Volker; Samardzija, Marijana; Puig, Berta; Fuchs, Peter; Franze, Kristian; Hauck, Stefanie M; Grosche, Antje (2023). Retinal regions shape human and murine Müller cell proteome profile and functionality. GLIA, 71(2), pp. 391-414. Wiley-Blackwell 10.1002/glia.24283

The human macula is a highly specialized retinal region with pit‐like morphology and rich in cones. How Müller cells, the principal glial cell type in the retina, are adapted to this environment is still poorly understood. We compared proteomic da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9b9cc1d404c2b8597dfe3764862941

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

Autor: Kerstin Nagel-Wolfrum, Benjamin R. Fadl, Mirjana M. Becker, Kirsten A. Wunderlich, Jessica Schäfer, Daniel Sturm, Jacques Fritze, Burcu Gür, Lew Kaplan, Tommaso Andreani, Tobias Goldmann, Matthew Brooks, Margaret R. Starostik, Anagha Lokhande, Melissa Apel, Karl R. Fath, Katarina Stingl, Susanne Kohl, Margaret M. DeAngelis, Ursula Schlötzer-Schrehardt, Ivana K. Kim, Leah A. Owen, Jan M. Vetter, Norbert Pfeiffer, Miguel A. Andrade-Navarro, Antje Grosche, Anand Swaroop, Uwe Wolfrum

Usher syndrome (USH) is the most common form of hereditary deafness-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 mod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::329b57163bb4db6b733089a71fdee651
https://doi.org/10.1101/2021.08.27.457962

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

Autor: Jan De Bleecker, David Creytens, Matias Wagner, Sophie Walraedt, Christiane Neuhofer, Kirsten A. Wunderlich, Almut Turid Bischoff, Irina Balikova, Gabriele Holtappels, Bart P. Leroy, Pietro Farinelli, Thalia Van Laethem, Konstantinos Nikopoulos, Thomas Klopstock, Frank Peelman, Claus Bachert, Lara Derycke, Nina Lambrechts, Sarah De Jaegere, Jan Gerris, Riet De Rycke, Lotte B. Pedersen, Frauke Coppieters, Carlo Rivolta, Giulia Ascari, Elfride De Baere, Toon Rosseel, Pernille Martens, Brecht Guillemyn, Jo Van Dorpe, Olga Krysko

Publikováno v: Human mutation 41(5), 998-1011 (2020). doi:10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993

Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 missense vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196f4251d9acc06335a2b6535feb8fc9