Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity. [electronic resource]
Producer: 20180416Description: 35294 p. digitalISSN:- 2045-2322
- Binding Sites
- Cell Membrane -- metabolism
- Codon, Nonsense
- Epilepsies, Myoclonic -- genetics
- Epilepsy, Absence -- genetics
- Evoked Potentials -- physiology
- Gene Expression
- HEK293 Cells
- Humans
- Hydrophobic and Hydrophilic Interactions
- Molecular Docking Simulation
- Patch-Clamp Techniques
- Phenotype
- Protein Binding
- Protein Conformation, alpha-Helical
- Protein Conformation, beta-Strand
- Protein Interaction Domains and Motifs
- Protein Multimerization
- Protein Subunits -- chemistry
- Receptors, GABA-A -- chemistry
- Seizures -- genetics
- Severity of Illness Index
- Structural Homology, Protein
- Transfection
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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