Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Ciria C, Hernandez"'
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Externí odkaz:
https://doaj.org/article/c2dab91b3959449c94cfaf652789a345
Publikováno v:
Biomolecules, Vol 13, Iss 12, p 1790 (2023)
Variants in the GABRB gene, which encodes the β subunit of the GABAA receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are of
Externí odkaz:
https://doaj.org/article/9a0837e3da4f4e31a92284985a43ac8f
Autor:
Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald
Publikováno v:
Biomolecules, Vol 13, Iss 3, p 414 (2023)
Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. FS is a self-limited type of fever-related seizure. However, complicated prolonged FS can lead to complex partial epilepsy. We found that
Externí odkaz:
https://doaj.org/article/271466ba61d9486ca7466edf78a88a4b
Publikováno v:
American Journal of Physiology-Cell Physiology. 324:C694-C706
The inward rectifier potassium channel Kir7.1, encoded by the KCNJ13 gene, is a tetramer composed of two-transmembrane domain-spanning monomers, closer in homology to Kir channels associated with potassium transport such as Kir1.1, 1.2, and 1.3. Comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c4eefc9ffcf5dd5e540d875a37c8890
https://doi.org/10.1152/ajpcell.00335.2022
https://doi.org/10.1152/ajpcell.00335.2022
Publikováno v:
Neurobiology of Disease, Vol 68, Iss , Pp 167-179 (2014)
We compared the effects of three missense mutations in the GABAA receptor γ2 subunit on GABAA receptor assembly, trafficking and function in HEK293T cells cotransfected with α1, β2, and wildtype or mutant γ2 subunits. The mutations R82Q and P83S
Externí odkaz:
https://doaj.org/article/e7134dabba8840d394e0f5edb5592d64
Autor:
Mengnan Tian, Davide Mei, Elena Freri, Ciria C. Hernandez, Tiziana Granata, Wangzhen Shen, Robert L. Macdonald, Renzo Guerrini
Publikováno v:
Neurobiology of Disease, Vol 50, Iss , Pp 135-141 (2013)
The purpose of the study was to explore the pathogenic mechanisms underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel γ2 subunit gene (GABRG2) frameshift mutation. Four affected and one unaffected individuals c
Externí odkaz:
https://doaj.org/article/265e8c315cf348fda57d84d8e8e829ce
Autor:
Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162883 (2016)
Genetic epilepsies (GEs) account for approximately 50% of all seizure disorders, and familial forms include mutations in single GABAA receptor subunit genes (GABRs). In 144 sporadic GE cases (GECs), exome sequencing of 237 ion channel genes identifie
Externí odkaz:
https://doaj.org/article/e4749655adbe41d18d590c934e3b69c1
Autor:
Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0167264 (2016)
[This corrects the article DOI: 10.1371/journal.pone.0162883.].
Externí odkaz:
https://doaj.org/article/587cc38d85b04c37ac189bc86bfa47ab
Publikováno v:
Neurobiology of Disease, Vol 48, Iss 1, Pp 115-123 (2012)
The GABRG2 nonsense mutation, Q40X, is associated with the severe epilepsy syndrome, Dravet syndrome, and is predicted to generate a premature translation–termination codon (PTC) in the GABAA receptor γ2 subunit mRNA in a position that codes for t
Externí odkaz:
https://doaj.org/article/c239409f51334ebdb67e3863cbe419b9
Autor:
Ciria C. Hernandez, Rahilla A. Tarfa, Jose M. I. Limcaoco, Ruiting Liu, Pravat Mondal, Clare Hill, R. Keith Duncan, Thanos Tzounopoulos, Corey R. J. Stephenson, Matthew J. O’Meara, Peter Wipf
Publikováno v:
Bioorganic & Medicinal Chemistry Letters. 71:128841
To identify pore domain ligands on Kv7.2 potassium ion channels, we compared wild-type (WT) and W236L mutant Kv7.2 channels in a series of assays with previously validated and novel agonist chemotypes. Positive controls were retigabine, flupirtine, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5dc09deaa734e0a650ae27d1f2d1d5e
https://doi.org/10.1016/j.bmcl.2022.128841
https://doi.org/10.1016/j.bmcl.2022.128841