Article
Mutation in glutamate transporter homologue GltTk provides insights into pathologic mechanism of episodic ataxia 6.
Nature communications - 31 Mar 2023
Colucci Emanuela, Anshari Zaid R, Patiño-Ruiz Miyer F, Nemchinova Mariia, Whittaker Jacob, Slotboom Dirk J, Guskov Albert
Abstract excerpt
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 reduction in the substrates transport and an increase in the anion conductance. It was hypothesised that the structural...
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