Article
Amyotrophic lateral sclerosis-linked glutamate transporter mutant has impaired glutamate clearance capacity.
The Journal of biological chemistry - 5 Jan 2001
Trotti D, Aoki M, Pasinelli P, Berger U V, Danbolt N C, Brown R H, Hediger M A
Abstract excerpt
We have investigated the functional impact of a naturally occurring mutation of the human glutamate transporter GLT1 (EAAT2), which had been detected in a patient with sporadic amyotrophic lateral sclerosis. The mutation involves a substitution of the putative N-linked glycosylation site asparagine 206 by a serine residue (N206S) and results in reduced glycosylation of the transporter and decreased uptake...
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