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Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Absalom NL, Liao VWY, Kothur K, Indurthi DC, Bennetts B, Troedson C, Mohammad SS, Gupta S, McGregor IS, Bowen MT, Lederer D, Mary S, De Waele L, Jansen K, Gill D, Kurian MA, McTague A, Møller RS, Ahring PK, Dale RC, Chebib M. Absalom NL, et al. Brain Commun. 2020 Oct 1;2(2):fcaa162. doi: 10.1093/braincomms/fcaa162. eCollection 2020. Brain Commun. 2020. PMID: 33585817 Free PMC article.
α4βδ GABA(A) receptors are high-affinity targets for γ-hydroxybutyric acid (GHB).
Absalom N, Eghorn LF, Villumsen IS, Karim N, Bay T, Olsen JV, Knudsen GM, Bräuner-Osborne H, Frølund B, Clausen RP, Chebib M, Wellendorph P. Absalom N, et al. Proc Natl Acad Sci U S A. 2012 Aug 14;109(33):13404-9. doi: 10.1073/pnas.1204376109. Epub 2012 Jul 2. Proc Natl Acad Sci U S A. 2012. PMID: 22753476 Free PMC article.
Covalent trapping of methyllycaconitine at the α4-α4 interface of the α4β2 nicotinic acetylcholine receptor: antagonist binding site and mode of receptor inhibition revealed.
Absalom NL, Quek G, Lewis TM, Qudah T, von Arenstorff I, Ambrus JI, Harpsøe K, Karim N, Balle T, McLeod MD, Chebib M. Absalom NL, et al. J Biol Chem. 2013 Sep 13;288(37):26521-32. doi: 10.1074/jbc.M113.475053. Epub 2013 Jul 26. J Biol Chem. 2013. PMID: 23893416 Free PMC article.
41 results