Ontology highlight
ABSTRACT:
SUBMITTER: Tarlungeanu DC
PROVIDER: S-EPMC5554935 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Cell 20161201 6
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cel ...[more]