Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Gabrielle J Kosobucki"'
Autor:
Kevin K Ogden, Wenjuan Chen, Sharon A Swanger, Miranda J McDaniel, Linlin Z Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J Kosobucki, Anthony J Schulien, Zhuocheng Su, Joseph Pecha, Subhrajit Bhattacharya, Slavé Petrovski, Adam E Cohen, Elias Aizenman, Stephen F Traynelis, Hongjie Yuan
Publikováno v:
PLoS Genetics, Vol 13, Iss 1, p e1006536 (2017)
N-methyl-D-aspartate receptors (NMDARs), ligand-gated ionotropic glutamate receptors, play key roles in normal brain development and various neurological disorders. Here we use standing variation data from the human population to assess which protein
Externí odkaz:
https://doaj.org/article/60f8bb0309e04853b4d0c688c30b36ad
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Mutations in N-methyl-d-aspartate receptors (NMDAR) subunits have been implicated in a growing number of human neurodevelopmental disorders. Previously, a de novo mutation in GRIN2A, encoding the GluN2A subunit, was identified in a patient with sever
Externí odkaz:
https://doaj.org/article/4288fef1630e46d9bd186b464f6df8b6
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Frontiers in Pharmacology
Frontiers in Pharmacology
Mutations in N-methyl-d-aspartate receptors (NMDAR) subunits have been implicated in a growing number of human neurodevelopmental disorders. Previously, a de novo mutation in GRIN2A, encoding the GluN2A subunit, was identified in a patient with sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b54ce1161d1b9eac31db8787772029
https://doi.org/10.3389/fphar.2021.773455
https://doi.org/10.3389/fphar.2021.773455
Autor:
Subhrajit Bhattacharya, Varun Kannan, Hirofumi Kusumoto, Yuehua Zhang, Gabrielle J. Kosobucki, An-Sofie Schoonjans, Annapurna Poduri, Sylvie Nguyen, Xinhua Bao, Elias Aizenman, Elisabeth Schuler, Dragan Marjanovic, Hongjie Yuan, Scott J. Myers, Christelle Moufawad El Achkar, Christina Fenger, Nina Dirkx, Gaetan Lesca, Yuwu Jiang, Stephen F. Traynelis, Jean-Marie Cuisset, Ye Wu, Wenshu XiangWei, Steffen Syrbe, Katherine L. Helbig, Anthony J. Schulien, Johannes R. Lemke, Yuchen Xu
Publikováno v:
Brain
N-methyl D-aspartate receptors are ligand-gated ionotropic receptors mediating a slow, calcium-permeable component of excitatory synaptic transmission in the CNS. Variants in genes encoding NMDAR subunits have been associated with a spectrum of neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4160e0d5c019871f4b8fb7caebbcbf36
https://hdl.handle.net/10067/1657750151162165141
https://hdl.handle.net/10067/1657750151162165141
Autor:
Gabrielle J. Kosobucki, Rosetta M. Chiavacci, Celina von Stülpnagel-Steinbeis, Lifeng Tian, Wenjuan Chen, Konstanze Hörtnagel, Eric D. Marsh, Xilma R. Ortiz-Gonzalez, Ulrike B. S. Hedrich, Stephen F. Traynelis, Claudia Naase, Anel Tankovic, Marni J. Falk, Hakon Hakonarson, Johannes R. Lemke, Dong Li, Hirofumi Kusumoto, Gina E. Elsen, Elias Aizenman, Chun Hu, Anthony J. Schulien, Hongjie Yuan, Elizabeth M. McCormick, Frieder Brueckner
Publikováno v:
The American Journal of Human Genetics. 99:802-816
N-methyl-D-aspartate receptors (NMDARs) are ligand-gated cation channels that mediate excitatory synaptic transmission. Genetic mutations in multiple NMDAR subunits cause various childhood epilepsy syndromes. Here, we report a de novo recurrent heter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31548c3163bcbcfe74f0546ba351c4d5
https://doi.org/10.1016/j.ajhg.2016.07.013
https://doi.org/10.1016/j.ajhg.2016.07.013
Autor:
Shalom Mammen, Gabrielle J. Kosobucki, Chung-Yang Yeh, Elias Aizenman, Michael J. Palladino, Daniel T. Manjooran, Anthony J. Schulien, Jason A. Justice, Karen A. Hartnett-Scott
Publikováno v:
The Journal of pharmacology and experimental therapeutics. 367(2)
We present the design of an innovative molecular neuroprotective strategy and provide proof-of-concept for its implementation, relying on the injury-mediated activation of an ectopic gene construct. As oxidative injury leads to the intracellular libe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::148c3d32cac69ff95f61adcd81e561d8
https://pubmed.ncbi.nlm.nih.gov/30190339
https://pubmed.ncbi.nlm.nih.gov/30190339