Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Nathan L, Absalom"'
Autor:
Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller
Publikováno v:
EBioMedicine, Vol 106, Iss , Pp 105236- (2024)
Summary: Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABAA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies.
Externí odkaz:
https://doaj.org/article/1f75a6fe61cf4a01b76139af961cda76
Autor:
Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. H. Johannesen, Elena Gardella, Julia Jacobs, Gaetan Lesca, Zeynep Gokce-Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger-Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller, Philip K. Ahring
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Genetic variants of γ-aminobutyric acid (GABAA) receptors are associated with early onset epilepsies. Here, the authors show that functional loss or gain-of-function defines clinical outcomes, with gain-of-function variants unexpectedly more severe.
Externí odkaz:
https://doaj.org/article/938c277148364649a647f6a2ec2820fd
Autor:
Nicole A. Hawkins, Jonathon C. Arnold, Michael T. Bowen, Jennifer A. Kearney, Mary Chebib, Fan Zhang, Iain S. McGregor, Marika Heblinski, Dilara Bahceci, Lyndsey L. Anderson, Nathan L. Absalom, Melissa J. Benson, Peter T. Doohan
Publikováno v:
British Journal of Pharmacology. 178:4826-4841
Background and purpose Cannabis has been used to treat epilepsy for millennia, with such use validated by regulatory approval of cannabidiol (CBD) for the treatment of Dravet syndrome. Unregulated artisanal cannabis-based products used to treat child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8c25387e476a6d533a396b6aac6596
https://doi.org/10.1111/bph.15661
https://doi.org/10.1111/bph.15661
Autor:
Philip K. Ahring, Vivian W. Y. Liao, Susan Lin, Nathan L. Absalom, Mary Chebib, Rikke S. Møller
Publikováno v:
EpilepsiaREFERENCES. 63(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd6eef6ffa819b511379e6c8a54f70a
https://pubmed.ncbi.nlm.nih.gov/35152403
https://pubmed.ncbi.nlm.nih.gov/35152403
Autor:
Han Chow Chua, Emilie T H Christensen, Kirsten Hoestgaard-Jensen, Leonny Y Hartiadi, Iqbal Ramzan, Anders A Jensen, Nathan L Absalom, Mary Chebib
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157700 (2016)
Extracts of the pepper plant kava (Piper methysticum) are effective in alleviating anxiety in clinical trials. Despite the long-standing therapeutic interest in kava, the molecular target(s) of the pharmacologically active constituents, kavalactones
Externí odkaz:
https://doaj.org/article/e699128614fe46f890b2a3e1b43c9fc5
Autor:
Dinesh C Indurthi, Trevor M Lewis, Philip K Ahring, Thomas Balle, Mary Chebib, Nathan L Absalom
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0161154 (2016)
The α4β2 nicotinic acetylcholine receptor (nAChR) is the most abundant subtype in the brain and exists in two functional stoichiometries: (α4)3(β2)2 and (α4)2(β2)3. A distinct feature of the (α4)3(β2)2 receptor is the biphasic activation resp
Externí odkaz:
https://doaj.org/article/dfa577d162d24b8f8d571661cf190213
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0141359 (2015)
2'-Methoxy-6-methylflavone (2'MeO6MF) is an anxiolytic flavonoid which has been shown to display GABAA receptor (GABAAR) β2/3-subunit selectivity, a pharmacological profile similar to that of the general anaesthetic etomidate. Electrophysiological s
Externí odkaz:
https://doaj.org/article/b5f5a49c950e4e74b1671a4fa00d32f1
Autor:
Philip K. Ahring, Lyndsey L. Anderson, Michael T. Bowen, Nathan L. Absalom, Thomas Balle, Iain S. McGregor, Mary Chebib, Tian Jiang, Vivian Wan Yu Liao, Jonathon C. Arnold
Publikováno v:
Journal of Biological Chemistry. 294:6157-6171
A number of epilepsy-causing mutations have recently been identified in the genes of the α1, β3, and γ2 subunits comprising the γ-aminobutyric acid type A (GABA(A)) receptor. These mutations are typically dominant, and in certain cases, such as t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c7f1c9814e53e7fe6284beab85897f
https://doi.org/10.1074/jbc.ra118.005697
https://doi.org/10.1074/jbc.ra118.005697
Autor:
Thomas Balle, Dinesh C. Indurthi, Nathan L. Absalom, Philip K. Ahring, Trevor M. Lewis, Taima Qudah, Vivian Wan Yu Liao, Mary Chebib
Publikováno v:
Pharmacological Research. 139:215-227
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a genetic form of epilepsy that is caused by mutations in several genes, including genes encoding for the α4 and β2 subunits of the nicotinic acetylcholine (nACh) receptor. Pentameric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc315e83fdb8f6ee1fac168ea9eb8ed8
https://doi.org/10.1016/j.phrs.2018.11.031
https://doi.org/10.1016/j.phrs.2018.11.031
Autor:
Michelle Goldsworthy, Nathan L Absalom, David Schröter, Helen C Matthews, Debora Bogani, Lee Moir, Anna Long, Christopher Church, Alison Hugill, Quentin M Anstee, Rob Goldin, Mark Thursz, Florian Hollfelder, Roger D Cox
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e61870 (2013)
We employed a random mutagenesis approach to identify novel monogenic determinants of type 2 diabetes. Here we show that haplo-insufficiency of the histone methyltransferase myeloid-lineage leukemia (Mll2/Wbp7) gene causes type 2 diabetes in the mous
Externí odkaz:
https://doaj.org/article/58b7322445b04143b65c00724e6e8374