Literature DB >> 17175814

GABA(A) receptor mutations associated with generalized epilepsies.

Robert L Macdonald1, Jing-Qiong Kang, Martin J Gallagher, Hua-Jun Feng.   

Abstract

Entities:  

Year:  2006        PMID： 17175814     DOI： 10.1016/s1054-3589(06)54007-4

Source DB:  PubMed          Journal:  Adv Pharmacol        ISSN： 1054-3589


× No keyword cloud information.
  12 in total

1.  The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.

Authors:  Mengnan Tian; Robert L Macdonald
Journal:  J Neurosci       Date:  2012-04-25       Impact factor: 6.167

2.  Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.

Authors:  Jing-Qiong Kang; Wangzhen Shen; Robert L Macdonald
Journal:  J Neurosci       Date:  2009-03-04       Impact factor: 6.167

3.  A predicted binding site for cholesterol on the GABAA receptor.

Authors:  Jérôme Hénin; Reza Salari; Sruthi Murlidaran; Grace Brannigan
Journal:  Biophys J       Date:  2014-05-06       Impact factor: 4.033

4.  Alteration of GABAergic neurotransmission by pulsed infrared laser stimulation.

Authors:  Hua-Jun Feng; Chris Kao; Martin J Gallagher; E Duco Jansen; Anita Mahadevan-Jansen; Peter E Konrad; Robert L Macdonald
Journal:  J Neurosci Methods       Date:  2010-07-21       Impact factor: 2.390

5.  Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

Authors:  Fanggeng Zou; Kirsty McWalter; Lindsay Schmidt; Amy Decker; Jonathan D Picker; Sharyn Lincoln; David A Sweetser; Lauren C Briere; Chellamani Harini; Eric Marsh; Livija Medne; Raymond Y Wang; Karen Leydiker; Andrew Mower; Gepke Visser; Inge Cuppen; Koen L van Gassen; Jasper van der Smagt; Adeel Yousaf; Michael Tennison; Anita Shanmugham; Elizabeth Butler; Gabriele Richard; Dianalee McKnight
Journal:  J Neurogenet       Date:  2017-05-02       Impact factor: 1.250

Review 6.  Mutations in GABAA receptor subunits associated with genetic epilepsies.

Authors:  Robert L Macdonald; Jing-Qiong Kang; Martin J Gallagher
Journal:  J Physiol       Date:  2010-03-22       Impact factor: 5.182

Review 7.  Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.

Authors:  Jing-Qiong Kang
Journal:  Epilepsy Res       Date:  2017-08-26       Impact factor: 3.045

8.  Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations.

Authors:  Robert L Macdonald; Jing-Qiong Kang
Journal:  Epilepsy Curr       Date:  2009 Jan-Feb       Impact factor: 7.500

9.  The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.

Authors:  Jing-Qiong Kang; Wangzhen Shen; Robert L Macdonald
Journal:  J Neurosci       Date:  2009-03-04       Impact factor: 6.167

10.  Context-dependent modulation of alphabetagamma and alphabetadelta GABA A receptors by penicillin: implications for phasic and tonic inhibition.

Authors:  Hua-Jun Feng; Emmanuel J Botzolakis; Robert L Macdonald
Journal:  Neuropharmacology       Date:  2008-08-19       Impact factor: 5.250
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.