mProX™ Human GABRA2 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Ion Channel Cell Lines
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Published Data
Fig.1 Repair of the private deletion in B6J is sufficient to restore GABRA2 protein and mRNA levels.
In addition, the original Gabra2KI/KI founder mouse's hippocampal (top panel) and cortical (bottom panel) protein levels are recovered in comparison to B6J and are comparable to those of B6NJ.
Ref: Mulligan, Megan K., et al. "Identification of a functional non-coding variant in the GABA A receptor α2 Subunit of the C57BL/6J mouse reference genome: Major implications for neuroscience research." Frontiers in genetics 10 (2019): 188.
Pubmed: 30984232
DOI: 10.3389/fgene.2019.00188
Research Highlights
In addition, this patient exhibited significant EOEE linked to delayed cognitive development. Since there have only been two cases documented thus far, it is still unclear what the clinical range and functional implications of GABRA2 mutations are.
Maljevic, Snezana, et al. "Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures." Brain 142.5 (2019): e15-e15.
Pubmed:
31032849
DOI:
10.1093/brain/awz079
Genetic variations in GABA receptor subunit alpha-2 (GABRA2) may affect externalizing trajectories by making an individual more vulnerable to parental supervision.
Trucco, Elisa M., et al. "Susceptibility effects of GABA receptor subunit alpha-2 (GABRA2) variants and parental monitoring on externalizing behavior trajectories: Risk and protection conveyed by the minor allele." Development and Psychopathology 28.1 (2016): 15-26.
Pubmed:
25797587
DOI:
10.1017/S0954579415000255