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

ABSTRACT: 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 basis of these opposed functional effects might be the straightening of transmembrane helix 5, which is kinked in the wild-type protein. In this study, we present the functional and structural implications of the mutation P208R in the archaeal homologue of glutamate transporters Glt_Tk. We show that also in Glt_Tk the P208R mutation leads to reduced aspartate tra

SUBMITTER: Colucci E 

PROVIDER: S-EPMC10066184 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature