Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants

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 act...

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Hlavní autoři:	Ameya S. Kasture, Florian P. Fischer, Lisa Kunert, Melanie L. Burger, Alexander C. Burgstaller, Ali El-Kasaby, Thomas Hummel, Sonja Sucic
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-01-01
Edice:	Frontiers in Neuroscience
Témata:	Drosophila melanogaster epilepsy γ -aminobutyric acid (GABA) GABA transporter 1 protein folding and trafficking transporter disease variants
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fnins.2022.1074427/full
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