Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants
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Abstract
Mutations in the human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) can instigate myoclonic-atonic and other generalized epilepsies in the afflicted individuals. We systematically examined fifteen hGAT-1 disease variants, all of which dramatically reduced or completely abolished GABA uptake activity. Many of these loss-of-function variants were absent from their regular site...
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folding , Epilepsy , -aminobutyric acid (GABA) , Neurosciences. Biological psychiatry. Neuropsychiatry , 106025 Neurobiology , Drosophila melanogaster , SDG 3 - Good Health and Well-being , trafficking , GABA transporter 1 , uptake , SDG 3 – Gesundheit und Wohlergehen , epilepsy , transporter disease variants , γ -aminobutyric acid (GABA) , 4-phenylbutyrate, uptake , protein folding and trafficking , 106025 Neurobiologie , 4-phenyl butyric acid , RC321-571 , Neuroscience