Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans

Journal of Neuroscience

Volumn 22, Issue 13, 2002, Pages 5321-5327

  Bianchi, Matt T ^a   Song, Luyan ^b   Zhang, Helen ^a   Macdonald, Robert L ^b,c  

^a UNIVERSITY OF MICHIGAN   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Benzodiazepine; Concentration jump; Deactivation; Epilepsy; GABAA receptor; Mutation

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; BENZODIAZEPINE; DIAZEPAM; PROTEIN SUBUNIT;

ARTICLE; CONTROLLED STUDY; DESENSITIZATION; EPILEPSY; GENE MUTATION; HUMAN; HUMAN CELL; KIDNEY CELL; NERVE CELL INHIBITION; PRIORITY JOURNAL; XENOPUS;

EID: 0036663012     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.22-13-05321.2002     Document Type: Article

References (26)

1. A receptor subunits: Analysis of transient single-cell expression utilizing a fluorescent substrate/marker gene technique. J Neurosci 13:1418-1428.
2. A receptor channels. J Neurosci 21:9083-9091.
3. A receptor γ2L subunit produces an apparent decrease in desensitization by stabilizing open states without altering desensitized states. Neuropharmacology 41:737-744.
4. A receptors. J Neurosci 21:1127-1136.
5. A receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene. Nat Genet 28:46-48.
6. Bross P, Corydon TJ, Andresen BS, Jorgensen MM, Bolund L, Gregersen N (1999) Protein misfolding and degradation in genetic diseases. Hum Mutat 14:186-198.
7. Campos-Caro A, Sala S, Ballesta JJ, Vincente-Agullo F, Criado M, Sala F (1996) A single residue in the M2-M3 loop is a major determinant of coupling between binding and gating in neuronal nicotinic receptors. Proc Natl Acad Sci USA 93:6118-6123.
8. C receptor. Nat Neurosci 2:219-225.
9. A receptor. J Neurosci 16:5415-5424.
10. A receptor desensitization: The role of the gamma2 subunit and its physiological significance. J Physiol (Lond) 497:145-159.
11. A receptors containing gamma 2 or delta subtypes expressed with alpha 1 and beta 3 subtypes in mouse L929 cells. J Physiol (Lond) 505:283-297.
12. Gomez CM, Maselli R, Gundeck JE, Chao M, Day JW, Tamamizu S, Lasalde JA, McNamee M, Wollman RL (1997) Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction. J Neurosci 17:4170-4179.
13. A receptors in transfected L929 cells isolated by immunomagnetic bead separation. Neuropharmacology 36:63-73.
14. A receptor currents in mouse fibroblasts. J Physiol (Lond) 514 1:27-45.
15. A channel responses to brief agonist pulses. Neuron 15:181-191.
16. Keller SH, Lindstrom J, Ellisman M, Taylor P (2001) Adjacent basic amino acid residues recognized by the COP I complex and ubiquitination govern endoplasmic reticulum to cell surface trafficking of the nicotinic acetylcholine receptor alpha-subunit. J Biol Chem 276:18384-18391.
17. A receptor assembly: Identification and structure of γ2 sequences forming the intersubunit contacts with α1 and β3 subunits. J Biol Chem 275:8921-8928.
18. Lewis TM, Schofield PR (1999) Structure-function relationships of the human glycine receptor: Insights from hyperekplexia mutations. Ann NY Acad Sci 868:681-684.
19. Lynch JW, Rajendra S, Pierce KD, Handford CA, Barry PH, Schofield PR (1997) Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. EMBO J 16:110-120.
20. A receptor channels. Annu Rev Neurosci 17:569-602.
21. A-receptor subtypes really occur in the brain? Trends Neurosci 19:139-143.
22. A receptor subunit for benzodiazepine pharmacology. Nature 338:582-585.
23. A receptor subtypes. Pharmacol Rev 47:181-234.
24. A receptors. Trends Pharmacol Sci 18:425-429.
25. Sigel E, Buhr A, Baur R (1999) Role of the conserved lysine residue in the middle of the predicted extracellular loop between M2 and M3 in the GABA(A) receptor. J Neurochem 73:1758-1764.
26. A receptor γ2 subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28:49-52.