Pharmacological chaperones restore proteostasis of epilepsy-associated GABA(A) receptor variants

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 [Formula: see text] subunit of GABA(A) receptors causing mild to severe clinical phenotypes and showed that they...

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Detalles Bibliográficos
Autores principales: Wang, Ya-Juan, Seibert, Hailey, Ahn, Lucie Y., Schaffer, Ashleigh E., Mu, Ting-Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10153171/
https://www.ncbi.nlm.nih.gov/pubmed/37131660
http://dx.doi.org/10.1101/2023.04.18.537383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10153171/
https://www.ncbi.nlm.nih.gov/pubmed/37131660
http://dx.doi.org/10.1101/2023.04.18.537383

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