Výsledky vyhledávání - "NAOYUKI TANIMOTO"

Akademický článek

The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

Autor: Andrea Milenkovic, Denise Schmied, Naoyuki Tanimoto, Mathias W. Seeliger, Janet R. Sparrow, Bernhard H. F. Weber

Publikováno v: Biology Open, Vol 8, Iss 7 (2019)

Human bestrophin-1 (BEST1) is an integral membrane protein known to function as a Ca2+-activated and volume-regulated chloride channel. The majority of disease-associated mutations in BEST1 constitute missense mutations and were shown in vitro to lea

Externí odkaz: https://doaj.org/article/10dc0580fb44444c8b801bb4b032369a

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

Akademický článek

Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.

Autor: Susanne C Beck, Yuxi Feng, Vithiyanjali Sothilingam, Marina Garcia Garrido, Naoyuki Tanimoto, Niyazi Acar, Shenliang Shan, Britta Seebauer, Wolfgang Berger, Hans-Peter Hammes, Mathias W Seeliger

Publikováno v: PLoS ONE, Vol 12, Iss 6, p e0178753 (2017)

Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment and ultimately blindness. While the emphasis of experimental work so far was on the developm

Externí odkaz: https://doaj.org/article/120f311049c64ceca8394ad333f61a26

Zobrazit plný text záznamu

Akademický článek

Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage

Autor: Barbara M. Braunger, Andreas Ohlmann, Marcus Koch, Naoyuki Tanimoto, Cornelia Volz, Ying Yang, Michael R. Bösl, Ales Cvekl, Herbert Jägle, Mathias W. Seeliger, Ernst R. Tamm

Publikováno v: Neurobiology of Disease, Vol 50, Iss , Pp 1-12 (2013)

Norrin is a retinal signaling molecule which is expressed in Müller glia and binds to Frizzled-4 to activate canonical Wnt/β-catenin signaling. Norrin is part of an essential signaling system that controls the formation of retinal capillaries durin

Externí odkaz: https://doaj.org/article/c537d54227de4dbca1c688b9ed359f44

Zobrazit plný text záznamu

Akademický článek

HCN1 Channels Enhance Rod System Responsivity in the Retina under Conditions of Light Exposure.

Autor: Vithiyanjali Sothilingam, Stylianos Michalakis, Marina Garcia Garrido, Martin Biel, Naoyuki Tanimoto, Mathias W Seeliger

Publikováno v: PLoS ONE, Vol 11, Iss 1, p e0147728 (2016)

Vision originates in rods and cones at the outer retina. Already at these early stages, diverse processing schemes shape and enhance image information to permit perception over a wide range of lighting conditions. In this work, we address the role of

Externí odkaz: https://doaj.org/article/37dc61ff7c1e463c97f9cb7ed30532da

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

Akademický článek

PGC-1α determines light damage susceptibility of the murine retina.

Autor: Anna Egger, Marijana Samardzija, Vithiyanjali Sothilingam, Naoyuki Tanimoto, Christina Lange, Silvia Salatino, Lei Fang, Marina Garcia-Garrido, Susanne Beck, Michal J Okoniewski, Albert Neutzner, Mathias W Seeliger, Christian Grimm, Christoph Handschin

Publikováno v: PLoS ONE, Vol 7, Iss 2, p e31272 (2012)

The peroxisome proliferator-activated receptor γ coactivator 1 (PGC-1) proteins are key regulators of cellular bioenergetics and are accordingly expressed in tissues with a high energetic demand. For example, PGC-1α and PGC-1β control organ functi

Externí odkaz: https://doaj.org/article/580a7c26d1df46de89503cf0170744fd

Zobrazit plný text záznamu

Akademický článek

Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina.

Autor: Gerrit Hilgen, Antje K Huebner, Naoyuki Tanimoto, Vithiyanjali Sothilingam, Christina Seide, Marina Garcia Garrido, Karl-Friedrich Schmidt, Mathias W Seeliger, Siegrid Löwel, Reto Weiler, Christian A Hübner, Karin Dedek

Publikováno v: PLoS ONE, Vol 7, Iss 10, p e46155 (2012)

Regulation of ion and pH homeostasis is essential for normal neuronal function. The sodium-driven chloride bicarbonate exchanger NCBE (Slc4a10), a member of the SLC4 family of bicarbonate transporters, uses the transmembrane gradient of sodium to dri

Externí odkaz: https://doaj.org/article/ad4f535473474f3c861e01bdc96b4f29

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání