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. [electronic resource]
Producer: 20120625Description: 5937-52 p. digitalISSN:- 1529-2401
- Analysis of Variance
- Animals
- Brain -- metabolism
- Cell Line, Transformed
- Cells, Cultured
- Cerebral Cortex -- cytology
- Chromosomes, Artificial, Bacterial -- genetics
- Codon, Nonsense -- genetics
- Embryo, Mammalian
- Flow Cytometry
- Gene Expression Regulation -- genetics
- Humans
- Immunoprecipitation
- Introns -- genetics
- Membrane Potentials -- drug effects
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic
- Microscopy, Confocal
- Models, Molecular
- Mutation -- genetics
- Neurons -- drug effects
- Nonsense Mediated mRNA Decay -- genetics
- Patch-Clamp Techniques
- Protein Subunits -- metabolism
- Protein Transport -- genetics
- RNA Splicing -- genetics
- RNA, Messenger -- metabolism
- RNA, Small Interfering -- genetics
- Rats
- Rats, Sprague-Dawley
- Receptors, GABA-A -- genetics
- Transfection -- methods
- gamma-Aminobutyric Acid -- pharmacology
No physical items for this record
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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