Výsledky vyhledávání - "Gesine Huber"

Akademický článek

AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects

Autor: Regine Mühlfriedel, Naoyuki Tanimoto, Christian Schön, Vithiyanjali Sothilingam, Marina Garcia Garrido, Susanne C. Beck, Gesine Huber, Martin Biel, Mathias W. Seeliger, Stylianos Michalakis

Publikováno v: Frontiers in Neuroscience, Vol 11 (2017)

Achromatopsia type 2 (ACHM2) is a severe, inherited eye disease caused by mutations in the CNGA3 gene encoding the α subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel. Patients suffer from strongly impaired daylight vision, pho

Externí odkaz: https://doaj.org/article/d81172a81af2418db119c2b191a8f372

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Akademický článek

Retina-specific activation of a sustained hypoxia-like response leads to severe retinal degeneration and loss of vision

Autor: Christina Lange, Christian Caprara, Naoyuki Tanimoto, Susanne Beck, Gesine Huber, Marijana Samardzija, Mathias Seeliger, Christian Grimm

Publikováno v: Neurobiology of Disease, Vol 41, Iss 1, Pp 119-130 (2011)

Loss of vision and blindness in human patients is often caused by the degeneration of neuronal cells in the retina. In mouse models, photoreceptors can be protected from death by hypoxic preconditioning. Preconditioning in low oxygen stabilizes and a

Externí odkaz: https://doaj.org/article/fac071889fc340c1b9dfa21b45a2282a

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Akademický článek

Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis.

Autor: Lucie P Pellissier, Celso Henrique Alves, Peter M Quinn, Rogier M Vos, Naoyuki Tanimoto, Ditte M S Lundvig, Jacobus J Dudok, Berend Hooibrink, Fabrice Richard, Susanne C Beck, Gesine Huber, Vithiyanjali Sothilingam, Marina Garcia Garrido, André Le Bivic, Mathias W Seeliger, Jan Wijnholds

Publikováno v: PLoS Genetics, Vol 9, Iss 12, p e1003976 (2013)

Development in the central nervous system is highly dependent on the regulation of the switch from progenitor cell proliferation to differentiation, but the molecular and cellular events controlling this process remain poorly understood. Here, we rep

Externí odkaz: https://doaj.org/article/a8b7e12b19c843c0a8d80c71c4476db7

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Akademický článek

PARP1 gene knock-out increases resistance to retinal degeneration without affecting retinal function.

Autor: Ayse Sahaboglu, Naoyuki Tanimoto, Jasvir Kaur, Javier Sancho-Pelluz, Gesine Huber, Edda Fahl, Blanca Arango-Gonzalez, Eberhart Zrenner, Per Ekström, Hubert Löwenheim, Mathias Seeliger, François Paquet-Durand

Publikováno v: PLoS ONE, Vol 5, Iss 11, p e15495 (2010)

Retinitis pigmentosa (RP) is a group of inherited neurodegenerative diseases affecting photoreceptors and causing blindness in humans. Previously, excessive activation of enzymes belonging to the poly-ADP-ribose polymerase (PARP) group was shown to b

Externí odkaz: https://doaj.org/article/96266ab0406d4d37ab966366448a34c1

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Akademický článek

Novel rodent models for macular research.

Autor: Gesine Huber, Severin Heynen, Coni Imsand, Franziska vom Hagen, Regine Muehlfriedel, Naoyuki Tanimoto, Yuxi Feng, Hans-Peter Hammes, Christian Grimm, Leo Peichl, Mathias W Seeliger, Susanne C Beck

Publikováno v: PLoS ONE, Vol 5, Iss 10, p e13403 (2010)

BACKGROUND: Many disabling human retinal disorders involve the central retina, particularly the macula. However, the commonly used rodent models in research, mouse and rat, do not possess a macula. The purpose of this study was to identify small labo

Externí odkaz: https://doaj.org/article/b858c7e2a03e46e48c5b6c51ebafc07c

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Akademický článek

Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomography.

Autor: M Dominik Fischer, Gesine Huber, Susanne C Beck, Naoyuki Tanimoto, Regine Muehlfriedel, Edda Fahl, Christian Grimm, Andreas Wenzel, Charlotte E Remé, Serge A van de Pavert, Jan Wijnholds, Marek Pacal, Rod Bremner, Mathias W Seeliger

Publikováno v: PLoS ONE, Vol 4, Iss 10, p e7507 (2009)

BackgroundOptical coherence tomography (OCT) is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration.Methodology/principal findingsWe a

Externí odkaz: https://doaj.org/article/13eb0502b8e44587b58fe6fa87741ce4

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Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

Publikováno v: The Journal of clinical investigation, vol 128, iss 12
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2018, 128 (12), pp.5663--5675. ⟨10.1172/JCI96098⟩

International audience; Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone functio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470e7ba4f9a01dd349b61665c4c93838
https://doi.org/10.1172/jci96098

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A retinal model of cerebral malaria

Autor: François Paquet-Durand, Sylvia Bolz, Benjamin Mordmüller, Marina Garcia-Garrido, Naoyuki Tanimoto, Susanne C. Beck, Wolfgang Hoffmann, Regine Mühlfriedel, Ulrich Schraermeyer, Mathias W. Seeliger, Soumyaparna Das, Le Chang, Timm Schubert, Gesine Huber

Publikováno v: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)

Malaria is a causative factor in about 500.000 deaths each year world-wide. Cerebral malaria is a particularly severe complication of this disease and thus associated with an exceedingly high mortality. Malaria retinopathy is an ocular manifestation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591942184105cf7a7429914f3ce929cc
https://pubmed.ncbi.nlm.nih.gov/30837488

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Endothelial SRF/MRTF ablation causes vascular disease phenotypes in murine retinae

Autor: Dongjeong Park, Heidemarie Riehle, Ralf H. Adams, Hartwig Wolburg, Christine Stritt, Mathias W. Seeliger, Susanne C. Beck, Alfred Nordheim, Christine Weinl, Eric N. Olson, Gesine Huber

Publikováno v: Journal of Clinical Investigation. 123:2193-2206

Retinal vessel homeostasis ensures normal ocular functions. Consequently, retinal hypovascularization and neovascularization, causing a lack and an excess of vessels, respectively, are hallmarks of human retinal pathology. We provide evidence that EC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca5606fec08c56500ea1345deccab79
https://doi.org/10.1172/jci64201

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Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia

Autor: Elvir Becirovic, Jennifer Schmidt, Vidhyasankar Krishnamoorthy, Gesine Huber, Hildegard Buening, Tim Gollisch, Stylianos Michalakis, Xiangang Zong, Martin Biel, Naoyuki Tanimoto, Susanne Koch, Lin Bai, Mathias W. Seeliger, M. Dominik Fischer, Regine Muehlfriedel, E. Fahl, Susanne C. Beck

Publikováno v: Retinal Degenerative Diseases ISBN: 9781461406303

The absence of cyclic nucleotide-gated (CNG) channels in cone photoreceptor outer segments leads to achromatopsia, a severely disabling disease associated with the complete lack of cone photoreceptor function. In a common form, loss of the CNGA3 subu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc8b896c58bce568e590538b6f8dea43
https://doi.org/10.1007/978-1-4614-0631-0_25

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