Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.

doi:10.1016/j.cell.2016.11.013

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Article

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.

Cell - 1 Dec 2016

Tărlungeanu Dora C, Deliu Elena, Dotter Christoph P, Kara Majdi, Janiesch Philipp Christoph, Scalise Mariafrancesca, Galluccio Michele, Tesulov Mateja, Morelli Emanuela, Sonmez Fatma Mujgan, Bilguvar Kaya, Ohgaki Ryuichi, Kanai Yoshikatsu, Johansen Anide, Esharif Seham, Ben-Omran Tawfeg, Topcu Meral, Schlessinger Avner, Indiveri Cesare, Duncan Kent E, Caglayan Ahmet Okay, Gunel Murat, Gleeson Joseph G, Novarino Gaia

Abstract excerpt

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...

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PMID: 27912058
DOI: 10.1016/j.cell.2016.11.013
PMCID: PMC5554935

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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