Functional characterization of the new human GABA A receptor mutation β3(R192H)
dc.contributor.author | Pignay, Virginie | en_US |
dc.contributor.author | Baur, Roland | en_US |
dc.contributor.author | Bianchi, Matt T. | en_US |
dc.contributor.author | Boulenger, Jean P. | en_US |
dc.contributor.author | Gallati, Sabina | en_US |
dc.contributor.author | Hinkle, David J. | en_US |
dc.contributor.author | Macdonald, Robert L. | en_US |
dc.contributor.author | Buhr, Andreas | en_US |
dc.contributor.author | Courtet, Philippe | en_US |
dc.contributor.author | Sigel, Erwin | en_US |
dc.date.accessioned | 2006-09-08T20:09:09Z | |
dc.date.available | 2006-09-08T20:09:09Z | |
dc.date.issued | 2002-08 | en_US |
dc.identifier.citation | Buhr, Andreas; Bianchi, Matt T.; Baur, Roland; Courtet, Philippe; Pignay, Virginie; Boulenger, Jean P.; Gallati, Sabina; Hinkle, David J.; Macdonald, Robert L.; Sigel, Erwin; (2002). "Functional characterization of the new human GABA A receptor mutation β3(R192H)." Human Genetics 111(2): 154-160. <http://hdl.handle.net/2027.42/42268> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/42268 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12189488&dopt=citation | en_US |
dc.description.abstract | We screened 124 individuals for single nucleotide polymorphisms of the α1, β3 and γ2 genes of the GABA A receptor in the regions corresponding to the ligand-binding domains on the protein level. In a patient with chronic insomnia, a missense mutation was found in the gene of the β3 subunit. This mutation results in the substitution of the amino acid residue arginine for histidine in position 192 (β3(R192H)). The patient was found to be heterozygous for this mutation. Functional analysis of human α1β3(R192H)γ2S GABA A receptors using ultra fast perfusion techniques revealed a slower rate of the fast phase of desensitization compared with α1β3γ2S GABA A receptors. Additionally, current deactivation [a major determinant of inhibitory postsynaptic current (IPSC) duration] was faster in the mutated receptors. This raises the possibility of decreased GABAergic inhibition contributing to insomnia, as some members of the patient's family also suffer from insomnia. The mutation β3(R192H) might, therefore, be linked to this condition. The intron/exon boundaries of the α1 subunit gene were also established and three additional variants were found in the α1 and β3 genes. | en_US |
dc.format.extent | 114795 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Legacy | en_US |
dc.title | Functional characterization of the new human GABA A receptor mutation β3(R192H) | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Neuroscience Program, University of Michigan, Ann Arbor, MI 48109, USA, | en_US |
dc.contributor.affiliationum | Neuroscience Program, University of Michigan, Ann Arbor, MI 48109, USA, | en_US |
dc.contributor.affiliationother | Services Universitaires de Psychiatrie, CHU Montpellier, INSERM EMI 99–30, 34295 Montpellier, France, | en_US |
dc.contributor.affiliationother | Services Universitaires de Psychiatrie, CHU Montpellier, INSERM EMI 99–30, 34295 Montpellier, France, | en_US |
dc.contributor.affiliationother | Department of Pharmacology, University of Bern, Friedbuehlstrasse 49, CH-3010 Bern, Switzerland, | en_US |
dc.contributor.affiliationother | Services Universitaires de Psychiatrie, CHU Montpellier, INSERM EMI 99–30, 34295 Montpellier, France, | en_US |
dc.contributor.affiliationother | Department of Pharmacology, University of Bern, Friedbuehlstrasse 49, CH-3010 Bern, Switzerland, | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Inselspital, University of Bern, CH-3010 Bern, Switzerland, | en_US |
dc.contributor.affiliationother | Departments of Neurology, Molecular Physiology and Biophysics and Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37212, USA, | en_US |
dc.contributor.affiliationother | Department of Pharmacology, University of Bern, Friedbuehlstrasse 49, CH-3010 Bern, Switzerland, | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 12189488 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/42268/1/439-111-2-154_s00439-002-0766-7.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/s00439-002-0766-7 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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