Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene mutations is far from clear. Here we report a novel SLC6A1 misse...

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Detalles Bibliográficos
Autores principales: Wang, Jie, Poliquin, Sarah, Mermer, Felicia, Eissman, Jaclyn, Delpire, Eric, Wang, Juexin, Shen, Wangzhen, Cai, Kefu, Li, Bing-Mei, Li, Zong-Yan, Xu, Dong, Nwosu, Gerald, Flamm, Carson, Liao, Wei-Ping, Shi, Yi-Wu, Kang, Jing-Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218610/
https://www.ncbi.nlm.nih.gov/pubmed/32398021
http://dx.doi.org/10.1186/s13041-020-00612-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218610/
https://www.ncbi.nlm.nih.gov/pubmed/32398021
http://dx.doi.org/10.1186/s13041-020-00612-6

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