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Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria

Bailey, Charles G.; Ryan, Renae M.; Thoeng, Annora D.; Ng, Cynthia; King, Kara; Vanslambrouck, Jessica M.; Auray-Blais, Christiane; Vandenberg, Robert J.; Bröer, Stefan; Rasko, John E.J.

Description

Solute carrier family 1, member 1 (SLC1A1; also known as EAAT3 and EAAC1) is the major epithelial transporter of glutamate and aspartate in the kidneys and intestines of rodents. Within the brain, SLC1A1 serves as the predominant neuronal glutamate transporter and buffers the synaptic release of the excitatory neurotransmitter glutamate within the interneuronal synaptic cleft. Recent studies have also revealed that polymorphisms in SLC1A1 are associated with obsessive-compulsive disorder (OCD)...[Show more]

CollectionsANU Research Publications
Date published: 2011
Type: Journal article
URI: http://hdl.handle.net/1885/100837
Source: Journal of Clinical Investigation
DOI: 10.1172/JCI44474

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