Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Albena Kantardzhieva"'
Autor:
Moritz J. Schmidt, Ashish Gupta, Christien Bednarski, Stefanie Gehrig-Giannini, Florian Richter, Christian Pitzler, Michael Gamalinda, Christina Galonska, Ryo Takeuchi, Kui Wang, Caroline Reiss, Kerstin Dehne, Michael J. Lukason, Akiko Noma, Cindy Park-Windhol, Mariacarmela Allocca, Albena Kantardzhieva, Shailendra Sane, Karolina Kosakowska, Brian Cafferty, Jan Tebbe, Sarah J. Spencer, Scott Munzer, Christopher J. Cheng, Abraham Scaria, Andrew M. Scharenberg, André Cohnen, Wayne M. Coco
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/ea3084e9d59245a1998e55dd20e1cb3d
Autor:
Moritz J. Schmidt, Ashish Gupta, Christien Bednarski, Stefanie Gehrig-Giannini, Florian Richter, Christian Pitzler, Michael Gamalinda, Christina Galonska, Ryo Takeuchi, Kui Wang, Caroline Reiss, Kerstin Dehne, Michael J. Lukason, Akiko Noma, Cindy Park-Windhol, Mariacarmela Allocca, Albena Kantardzhieva, Shailendra Sane, Karolina Kosakowska, Brian Cafferty, Jan Tebbe, Sarah J. Spencer, Scott Munzer, Christopher J. Cheng, Abraham Scaria, Andrew M. Scharenberg, André Cohnen, Wayne M. Coco
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Abstract Streptococcus pyogenes (Spy) Cas9 has potential as a component of gene therapeutics for incurable diseases. One of its limitations is its large size, which impedes its formulation and delivery in therapeutic applications. Smaller Cas9s are a
Externí odkaz:
https://doaj.org/article/164ce27f7fcc420f8085cc9624163a4b
Autor:
Jan Tebbe, Florian Richter, Sarah J. Spencer, Karolina A. Kosakowska, Wayne Coco, Christien Bednarski, Cindy Park-Windhol, Abraham Scaria, Michael Biag Gamalinda, Ryo Takeuchi, Scott Munzer, Akiko Noma, Albena Kantardzhieva, Andre Cohnen, Michael Lukason, Mariacarmela Allocca, Caroline W. Reiss, Andrew M. Scharenberg, Brian J. Cafferty, Christian Pitzler, Stefanie Gehrig-Giannini, Kui Wang, Ashish Gupta, Kerstin Dehne, Sane Shailendra, Christina Galonska, Moritz Schmidt, Christopher J. Cheng
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communications
Nature Communications
Streptococcus pyogenes (Spy) Cas9 has potential as a component of gene therapeutics for incurable diseases. One of its limitations is its large size, which impedes its formulation and delivery in therapeutic applications. Smaller Cas9s are an alterna
Publikováno v:
Journal of Comparative Neurology. 521:3260-3271
Cochlear hair cells form ribbon synapses with terminals of the cochlear nerve. To test the hypothesis that one function of the ribbon is to create synaptic vesicles from the cisternal structures that are abundant at the base of hair cells, we analyze
Autor:
Zhanguo Jin, Li L. Du, Jianzhong Li, Jonathan G. Seidman, Albena Kantardzhieva, Denise Yan, Maria Bitner-Glindzicz, Zheng-Yi Chen, Dongyi Han, Xiaomei Ouyang, Christine E. Seidman, Jing Cheng, Maikun Teng, Xu Li, Youqin Wang, Roland D. Eavey, Huijun Yuan, Xuezhong Liu, Bing Han, Pu Dai, Heng Xu, Xiangyin Kong
Publikováno v:
The American Journal of Human Genetics. 86:65-71
We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval spans a genetic distance of 5.41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening
Autor:
Inge Versteeg, Naoyuki Tanimoto, Albena Kantardzhieva, Felix Tonagel, Mathias W. Seeliger, Jan Klooster, Serge A. van de Pavert, Bob Nunes Cardozo, Susanne C. Beck, Agnes G.S.H. van Rossum, Wendy M. Aartsen, Jan Wijnholds
Publikováno v:
Human Molecular Genetics. 15:1291-1302
Membrane-associated guanylate kinase (MAGUK) proteins function as scaffold proteins contributing to cell polarity and organizing signal transducers at the neuronal synapse membrane. The MAGUK protein Mpp4 is located in the retinal outer plexiform lay
Autor:
Albena Kantardzhieva, Jan Wijnholds, Inge Versteeg, André Le Bivic, Jan Meuleman, Anna Malysheva, Jan Klooster, Mathias W. Seeliger, Serge A. van de Pavert, P. Rashbass, Christiaan N. Levelt, Sylvia Geiger
Publikováno v:
Journal of Cell Science. 117:4169-4177
Loss of Crumbs homologue 1 (CRB1) function causes either the eye disease Leber congenital amaurosis or progressive retinitis pigmentosa, depending on the amount of residual CRB1 activity and the genetic background. Crb1 localizes specifically to the
Publikováno v:
Journal of proteome research. 11(2)
The synaptic ribbon is an electron-dense structure found in hair cells and photoreceptors. The ribbon is surrounded by neurotransmitter-filled vesicles and considered to play a role in vesicle release. We generated an objective, quantitative analysis
Publikováno v:
The FEBS Journal, 273, 1152-1165. Wiley-Blackwell
Mutations in the human Crumbs homologue 1 (CRB1) gene are a frequent cause of various forms of retinitis pigmentosa. The CRB1–membrane-associated palmitoylated protein (MPP)5 protein complex is thought to organize an intracellular protein scaffold
Autor:
Albena Kantardzhieva, Ingrid M. Punte, Anneke I. den Hollander, Stef J.F. Letteboer, Ronald Roepman, Elmar Krieger, Jan Wijnholds, Carla A. Neefjes-Mol, Inge Versteeg, Ilse Gosens, Jan Klooster, Frans P.M. Cremers, Svetlana Alexeeva
Publikováno v:
Investigative Ophthalmology and Visual Science, 46, 6, pp. 2192-201
Investigative Ophthalmology and Visual Science, 46, 2192-201
Investigative Ophthalmology and Visual Science, 46, 2192-201
PURPOSE. Mutations in the human Crumbs homologue 1 (CRB1) gene are a frequent cause of Leber congenital amaurosis (LCA) and various forms of retinitis pigmentosa. CRB1 is thought to organize an intracellular protein scaffold in the retina that is inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605a8ae932a05d105d02cd040baa7be2
https://hdl.handle.net/2066/32690
https://hdl.handle.net/2066/32690