Mutation in glutamate transporter homologue GltTk provides insights into pathologic mechanism of episodic ataxia 6

Episodic ataxias (EAs) are rare neurological conditions affecting the nervous system and typically leading to motor impairment. EA6 is linked to the mutation of a highly conserved proline into an arginine in the glutamate transporter EAAT1. In vitro studies showed that this mutation leads to a reduc...

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Detalles Bibliográficos
Autores principales: Colucci, Emanuela, Anshari, Zaid R., Patiño-Ruiz, Miyer F., Nemchinova, Mariia, Whittaker, Jacob, Slotboom, Dirk J., Guskov, Albert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10066184/
https://www.ncbi.nlm.nih.gov/pubmed/37002226
http://dx.doi.org/10.1038/s41467-023-37503-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10066184/
https://www.ncbi.nlm.nih.gov/pubmed/37002226
http://dx.doi.org/10.1038/s41467-023-37503-y

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