Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Joseph W, Lynch"'
Autor:
Meng Wang, Edmund Cotter, Ya-Juan Wang, Xu Fu, Angela L. Whittsette, Joseph W. Lynch, R. Luke Wiseman, Jeffery W. Kelly, Angelo Keramidas, Ting-Wei Mu
Publikováno v:
Cell & Bioscience, Vol 12, Iss 1, Pp 1-20 (2022)
Abstract Background Genetic variants in the subunits of the gamma-aminobutyric acid type A (GABAA) receptors are implicated in the onset of multiple pathologic conditions including genetic epilepsy. Previous work showed that pathogenic GABAA subunits
Externí odkaz:
https://doaj.org/article/569f39d2a4334662858040e0811c4d49
Autor:
Xiumin Chen, Katie A. Wilson, Natascha Schaefer, Lachlan De Hayr, Mark Windsor, Emmanuel Scalais, Germaine van Rijckevorsel, Katrien Stouffs, Carmen Villmann, Megan L. O’Mara, Joseph W. Lynch, Robert J. Harvey
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Glycine receptors (GlyRs) containing the α2 subunit govern cell fate, neuronal migration and synaptogenesis in the developing cortex and spinal cord. Rare missense variants and microdeletions in the X-linked GlyR α2 subunit gene (GLRA2) have been a
Externí odkaz:
https://doaj.org/article/743362d01b994827a23b902182262cc5
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Missense mutations T166M, Q242L, T336M, and Y474C in the GABAA receptor (GABAAR) α3 subunit gene are associated with epileptic seizures, dysmorphic features, intellectual disability, and developmental delay. When incorporated into GABAARs expressed
Externí odkaz:
https://doaj.org/article/6939c5d42cd346d3b9ee0f4c0c2482ea
Publikováno v:
Neurobiology of Disease, Vol 140, Iss , Pp 104850- (2020)
Mutations in synaptic NMDA receptors (NMDARs) are associated with epilepsy and neurodevelopmental disorders. The effects of several such mutations have been investigated in recombinantly-expressed NMDARs under conditions of steady-state activation. S
Externí odkaz:
https://doaj.org/article/7747e4f33604492d93f45ff311484638
Publikováno v:
Neurobiology of Disease, Vol 108, Iss , Pp 213-224 (2017)
Epilepsy is a spectrum of neurological disorders with many causal factors. The GABA type-A receptor (GABAAR) is a major genetic target for heritable human epilepsies. Here we examine the functional effects of three epilepsy-causing mutations to the
Externí odkaz:
https://doaj.org/article/41ced6ce816640ecb7f7c5acc54ab086
Autor:
Mohammed Atif, Jennifer J Smith, Argel Estrada-Mondragon, Xue Xiao, Angela A Salim, Robert J Capon, Joseph W Lynch, Angelo Keramidas
Publikováno v:
PLoS Pathogens, Vol 15, Iss 1, p e1007570 (2019)
Glutamate-gated chloride channel receptors (GluClRs) mediate inhibitory neurotransmission at invertebrate synapses and are primary targets of parasites that impact drastically on agriculture and human health. Ivermectin (IVM) is a broad-spectrum pest
Externí odkaz:
https://doaj.org/article/ab48c3ee1db246798d11cc0351b3562a
Publikováno v:
IUPHAR/BPS Guide to Pharmacology CITE. 2023
The inhibitory glycine receptor (nomenclature as agreed by the NC-IUPHAR Subcommittee on Glycine Receptors) is a member of the Cys-loop superfamily of transmitter-gated ion channels that includes the GABAA, nicotinic acetylcholine and 5-HT3 receptors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86fa59f7c4eda1e971ac70cc129dee67
https://doi.org/10.2218/gtopdb/f73/2023.1
https://doi.org/10.2218/gtopdb/f73/2023.1
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
The GABAA receptor (GABAAR) α1 subunit A295D epilepsy mutation reduces the surface expression of α1A295Dβ2γ2 GABAARs via ER-associated protein degradation. Suberanilohydroxamic acid (SAHA, also known as Vorinostat) was recently shown to correct t
Externí odkaz:
https://doaj.org/article/b5fc870ca4d9447e88f508e6e64c647e
Autor:
Sophie Leacock, Parnayan Syed, Victoria M. James, Anna Bode, Koichi Kawakami, Angelo Keramidas, Maximiliano Suster, Joseph W. Lynch, Robert J. Harvey
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Inhibitory glycine receptors (GlyRs) are pentameric ligand-gated anion channels with major roles in startle disease/hyperekplexia (GlyR α1), cortical neuronal migration/autism spectrum disorder (GlyR α2), and inflammatory pain sensitization/rhythmi
Externí odkaz:
https://doaj.org/article/5eb871dcc3324460af97ccca12370326
Autor:
Melissa J. Benson, Nicola K. Thomas, Sahil Talwar, Mark P. Hodson, Joseph W. Lynch, Trent M. Woodruff, Karin Borges
Publikováno v:
Neurobiology of Disease, Vol 76, Iss , Pp 87-97 (2015)
The role of complement system-mediated inflammation is of key interest in seizure and epilepsy pathophysiology, but its therapeutic potential has not yet been explored. We observed that the pro-inflammatory C5a receptor, C5ar1, is upregulated in two
Externí odkaz:
https://doaj.org/article/726988aac9aa4ddab11ad78e03523c3b