Article

Pharmacological chaperones restore proteostasis of epilepsy-associated GABA <sub>A</sub> receptor variants

2023-04-19

Abstract excerpt

Recent advances in genetic diagnosis identified variants in genes encoding GABA A receptors as causative for genetic epilepsy. Here, we selected eight disease-associated variants in the α1 subunit of GABA A receptors causing mild to severe clinical phenotypes and showed that they are loss of function, mainly by reducing the folding and surface trafficking of the α1 protein. Furthermore, we sought client protein-...

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Literature Corpus work: a098747a-97b3-5174-9955-122310fd0a2c
DOI: 10.1101/2023.04.18.537383

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