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.
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ChannelopathiesRNA sequencing of synaptic and cytoplasmic Upf1-bound transcripts supports contribution of nonsense-mediated decay to epileptogenesis.mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.Genome-wide association study identifies phospholipase C zeta 1 (PLCz1) as a stallion fertility locus in Hanoverian warmblood horsesIonotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Identification of Differentially Expressed Genes through Integrated Study of Alzheimer's Disease Affected Brain RegionsAltered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells.A roadmap for precision medicine in the epilepsies.Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutationThe molecular biology of genetic-based epilepsies.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.De novo GABRA1 mutations in Ohtahara and West syndromes.Contribution of GABRG2 Polymorphisms to Risk of Epilepsy and Febrile Seizure: a Multicenter Cohort Study and Meta-analysis.Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.γ2 GABAR Trafficking and the Consequences of Human Genetic Variation
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P2860
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.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
The intronic GABRG2 mutation, ...... a stable truncated γ2 subunit.
@ast
The intronic GABRG2 mutation, ...... a stable truncated γ2 subunit.
@en
type
label
The intronic GABRG2 mutation, ...... a stable truncated γ2 subunit.
@ast
The intronic GABRG2 mutation, ...... a stable truncated γ2 subunit.
@en
prefLabel
The intronic GABRG2 mutation, ...... a stable truncated γ2 subunit.
@ast
The intronic GABRG2 mutation, ...... a stable truncated γ2 subunit.
@en
P2860
P1476
The intronic GABRG2 mutation, ...... a stable truncated γ2 subunit.
@en
P2093
Mengnan Tian
Robert L Macdonald
P2860
P304
P356
10.1523/JNEUROSCI.5332-11.2012
P407
P577
2012-04-01T00:00:00Z