| scholarly article | Q13442814 |
| P2093 | author name string | Wangzhen Shen | |
| Jing-Qiong Kang | |||
| Robert L Macdonald | |||
| P2860 | cites work | Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon | Q24290775 |
| Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay | Q24323275 | ||
| Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus | Q24632952 | ||
| A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions | Q28214606 | ||
| Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations | Q28248837 | ||
| Molecular chaperones in cellular protein folding | Q29547795 | ||
| The role of the UPS in cystic fibrosis | Q33307871 | ||
| Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts | Q34149373 | ||
| Assembly and cell surface expression of heteromeric and homomeric gamma-aminobutyric acid type A receptors. | Q34370307 | ||
| Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome | Q34388195 | ||
| Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function | Q34658630 | ||
| Efficient downregulation of immunoglobulin mu mRNA with premature translation-termination codons requires the 5'-half of the VDJ exon | Q35618130 | ||
| An alternative branch of the nonsense-mediated decay pathway | Q35741768 | ||
| Autophagy: in sickness and in health | Q35753167 | ||
| The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation | Q35928809 | ||
| Nonsense-mediated mRNA decay in mammals | Q36110337 | ||
| Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species | Q36131531 | ||
| Allele-specific RNA interference for neurological disease | Q36342335 | ||
| Messenger RNA regulation: to translate or to degrade | Q36456597 | ||
| Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges | Q36510461 | ||
| A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules. | Q36543720 | ||
| Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping | Q37218067 | ||
| Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome | Q38317023 | ||
| The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells | Q40108303 | ||
| CYP3A5 mRNA degradation by nonsense-mediated mRNA decay | Q40409931 | ||
| Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. | Q40484937 | ||
| The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. | Q40506831 | ||
| Readthrough of dystrophin stop codon mutations induced by aminoglycosides | Q40584082 | ||
| Expression of functional GABAA receptors in transfected L929 cells isolated by immunomagnetic bead separation | Q41139780 | ||
| Cytoplasmic mRNA for human triosephosphate isomerase is immune to nonsense-mediated decay despite forming polysomes | Q41242129 | ||
| SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. | Q43757795 | ||
| A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay | Q45138843 | ||
| 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 | Q46669729 | ||
| Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. | Q46834488 | ||
| Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy | Q57529937 | ||
| SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy | Q79282578 | ||
| GABA(A) receptor mutations associated with generalized epilepsies | Q79439363 | ||
| A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy | Q83828124 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 2833-2844 | |
| P577 | publication date | 2009-03-01 | |
| P1433 | published in | Journal of Neuroscience | Q1709864 |
| P1476 | title | Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X | |
| P478 | volume | 29 |
| Q92604802 | A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function |
| Q37175224 | Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome |
| Q57949646 | Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations |
| Q40410496 | Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. |
| Q60054252 | Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis |
| Q30524177 | Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit |
| 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 |
| Q36217769 | Endoplasmic Reticulum-Targeted Subunit Toxins Provide a New Approach to Rescue Misfolded Mutant Proteins and Revert Cell Models of Genetic Diseases |
| Q34074424 | GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors |
| Q37523411 | Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain |
| Q37146444 | Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation |
| Q39346150 | Interaction between quality control systems for ER protein folding and RNA biogenesis |
| Q34789999 | Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies |
| Q33912426 | Mutations affecting GABAergic signaling in seizures and epilepsy |
| Q37716303 | Mutations in GABAA receptor subunits associated with genetic epilepsies |
| Q36877182 | Neurochemical and behavioral features in genetic absence epilepsy and in acutely induced absence seizures |
| Q26744759 | Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder |
| Q42607120 | Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. |
| Q64885471 | Prefrontal cortex-dependent innate behaviors are altered by selective knockdown of Gad1 in neuropeptide Y interneurons. |
| Q30836611 | RNA sequencing of synaptic and cytoplasmic Upf1-bound transcripts supports contribution of nonsense-mediated decay to epileptogenesis. |
| Q35991558 | RNA surveillance is required for endoplasmic reticulum homeostasis |
| Q50091065 | Research advances in hereditary epilepsy and precision drug therapy |
| Q47715149 | SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy |
| Q42375144 | Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy |
| Q39593426 | The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. |
| Q27015793 | The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology |
| Q27308026 | The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy |
| Q35977083 | 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 |
| Q39145945 | Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype |
| Q34315858 | mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies |
| Q47125609 | mRNAs containing NMD-competent premature termination codons are stabilized and translated under UPF1 depletion |
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