Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Kerstin, Nagel-Wolfrum"'
Autor:
Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100229- (2023)
Summary: There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy caused by pathogenic variants in over 80 different genes. Fu
Externí odkaz:
https://doaj.org/article/12422b011d57494b951baf0609ec467e
Autor:
Jessica Schäfer, Nicole Wenck, Katharina Janik, Joshua Linnert, Katarina Stingl, Susanne Kohl, Kerstin Nagel-Wolfrum, Uwe Wolfrum
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Human Usher syndrome (USH) is the most common form of hereditary combined deaf-blindness. USH is a complex genetic disorder, and the pathomechanisms underlying the disease are far from being understood, especially in the eye and retina. The USH1C gen
Externí odkaz:
https://doaj.org/article/c34b9e213e084b9ca8c16ed06537e22a
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 n/a-n/a (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
Autor:
Jacek Krzysko, Filip Maciag, Anna Mertens, Baran Enes Güler, Joshua Linnert, Karsten Boldt, Marius Ueffing, Kerstin Nagel-Wolfrum, Martin Heine, Uwe Wolfrum
Publikováno v:
Cells, Vol 11, Iss 18, p 2790 (2022)
The very large G protein-coupled receptor (VLGR1, ADGRV1) is the largest member of the adhesion GPCR family. Mutations in VLGR1 have been associated with the human Usher syndrome (USH), the most common form of inherited deaf-blindness as well as chil
Externí odkaz:
https://doaj.org/article/6b799e00d26e4912bbdf1c5a7b12e3aa
Autor:
Avigail Beryozkin, Ananya Samanta, Prakadeeswari Gopalakrishnan, Samer Khateb, Eyal Banin, Dror Sharon, Kerstin Nagel-Wolfrum
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 7, p 3541 (2022)
Ataluren and Gentamicin are translational readthrough drugs (TRIDs) that induce premature termination codon (PTC) readthrough, resulting in the production of full-length proteins that usually harbor a single missense substitution. FAM161A is a ciliar
Externí odkaz:
https://doaj.org/article/03eafda0dd054e07a17bf9c216174477
Autor:
Renske Schellens, Erik de Vrieze, Pam Graave, Sanne Broekman, Kerstin Nagel-Wolfrum, Theo Peters, Hannie Kremer, Rob W. J. Collin, Erwin van Wijk
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 17, p 9154 (2021)
Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in EYS (Eyes shut homolog) are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act v
Externí odkaz:
https://doaj.org/article/4c5d3a9fb24242c7a177ed74f4aa17d4
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 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 d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54ab98f223800a320d8b2134cdb99c7
Autor:
Christine Vössing, Marta Owczarek-Lipska, Kerstin Nagel-Wolfrum, Charlotte Reiff, Christoph Jüschke, John Neidhardt
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 22, p 8418 (2020)
X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We evaluated the potential of PTC124 (Ataluren, TranslamaTM) treatment to promote ribosomal read-through of premature
Externí odkaz:
https://doaj.org/article/60728b56a0b7429b9132f120f0da19ba
Autor:
Hanhan Liu, Katharina Bell, Anja Herrmann, Stefan Arnhold, Karl Mercieca, Fabian Anders, Kerstin Nagel-Wolfrum, Solon Thanos, Verena Prokosch
Publikováno v:
Investigative ophthalmologyvisual science. 63(8)
The aim of this study was to explore the roles of crystallins in the context of aging in glaucoma and potential mechanisms of neuroprotection in an experimental animal model of glaucoma.Intraocular pressure (IOP) was significantly elevated for 8 week
Autor:
Maria G. Winter, Thorben Schramm, Sylwia Kierszniowska, Andrea Ebert-Jung, Sebastian E. Winter, Gottfried Unden, Hannes Link, Christopher Schubert, Kerstin Nagel-Wolfrum
Publikováno v:
Environmental Microbiology. 23:2564-2577
C4-dicarboxylates, such as fumarate, L-malate and L-aspartate represent substrates for anaerobic growth of Escherichia coli by fumarate respiration. Here, we determined whether C4-dicarboxylate metabolism as well as fumarate respiration contribute to