| scholarly article | Q13442814 |
| P2093 | author name string | Jing-Qiong Kang | |
| Robert L Macdonald | |||
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| GABA(A) receptor assembly. Identification and structure of gamma(2) sequences forming the intersubunit contacts with alpha(1) and beta(3) subunits | Q73561174 | ||
| P433 | issue | 40 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | endoplasmic reticulum | Q79927 |
| childhood absence epilepsy | Q2894827 | ||
| P304 | page(s) | 8672-8677 | |
| P577 | publication date | 2004-10-01 | |
| P1433 | published in | Journal of Neuroscience | Q1709864 |
| P1476 | title | The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum | |
| P478 | volume | 24 |
| Q43251130 | A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly |
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| Q34464870 | A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. |
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| Q42683643 | An asymmetric contribution to gamma-aminobutyric type A receptor function of a conserved lysine within TM2-3 of alpha1, beta2, and gamma2 subunits |
| Q33574699 | An epilepsy-related region in the GABA(A) receptor mediates long-distance effects on GABA and benzodiazepine binding sites |
| Q40897947 | Assembly, trafficking and function of α1β2γ2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner. |
| Q37726585 | Axon initial segment dysfunction in epilepsy |
| Q36131243 | Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population |
| Q28295071 | Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors |
| Q39732193 | Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy |
| Q30394301 | Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity |
| Q36729857 | Early postnatal switch in GABAA receptor α-subunits in the reticular thalamic nucleus |
| Q30576168 | Endogenous positive allosteric modulation of GABA(A) receptors by diazepam binding inhibitor |
| Q46669729 | Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit |
| Q28082983 | Endozepines |
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| Q47109359 | GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy |
| Q34140020 | GABA acts as a ligand chaperone in the early secretory pathway to promote cell surface expression of GABAA receptors |
| Q42952818 | GABA receptors gone bad: the wrong place at the wrong time |
| Q79439363 | GABA(A) receptor mutations associated with generalized epilepsies |
| Q60453107 | GABAA Receptor 2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition |
| Q34979365 | GABAA receptor trafficking-mediated plasticity of inhibitory synapses |
| Q47967839 | Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy. |
| Q42529030 | Genetic variants in absence epilepsy: a contextual consideration of calcium current kinetics |
| Q37146444 | Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation |
| Q35745930 | Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases |
| Q34789999 | Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies |
| Q36190572 | Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism |
| Q33667168 | Mechanism of Potentiation of a Dysfunctional Epilepsy-Linked Mutated GABAA Receptor by a Neurosteroid (3α, 21-Dihydroxy-5α-pregnan-20-one): Transient Kinetic Investigations |
| Q28681145 | Molecular mechanisms of antiseizure drug activity at GABAA receptors |
| Q43146745 | Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations |
| Q36518581 | Mutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy |
| Q43059162 | Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. |
| Q33912426 | Mutations affecting GABAergic signaling in seizures and epilepsy |
| Q37716303 | Mutations in GABAA receptor subunits associated with genetic epilepsies |
| Q47778090 | Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. |
| Q36877182 | Neurochemical and behavioral features in genetic absence epilepsy and in acutely induced absence seizures |
| Q48421618 | Nucleus-specific abnormalities of GABAergic synaptic transmission in a genetic model of absence seizures. |
| Q48304242 | Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes |
| Q30480652 | Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy |
| Q33625579 | Reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA γ2 R43Q mouse model of absence epilepsy |
| Q35886280 | Reticular nucleus-specific changes in alpha3 subunit protein at GABA synapses in genetically epilepsy-prone rats |
| Q52599717 | SAHA (Vorinostat) Corrects Inhibitory Synaptic Deficits Caused by Missense Epilepsy Mutations to the GABAA Receptor γ2 Subunit. |
| Q42373415 | SYVN1, an ERAD E3 Ubiquitin Ligase, Is Involved in GABAAα1 Degradation Associated with Methamphetamine-Induced Conditioned Place Preference |
| Q42151215 | Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner |
| Q42375144 | Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy |
| Q38187360 | T-type Ca2+ channels in absence epilepsy |
| Q38125277 | T-type Ca2+ channels in normal and abnormal brain functions |
| Q36829293 | Tandem couture: Cys-loop receptor concatamer insights and caveats |
| Q35928809 | The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation |
| Q84963928 | The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression |
| Q40395726 | The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression |
| Q42906676 | Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents. |
| Q39145945 | Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype |
| Q37204045 | Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X |
| Q42281034 | Ubiquitin-proteasome dependent degradation of GABAAα1 in autism spectrum disorder |
| Q40484937 | Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. |
| Q34315858 | mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies |
| Q58712240 | γ2 GABAR Trafficking and the Consequences of Human Genetic Variation |
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