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Article

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Amino acids - 1 Dec 2015

Nava Caroline, Rupp Johanna, Boissel Jean-Paul, Mignot Cyril, Rastetter Agnès, Amiet Claire, Jacquette Aurélia, Dupuits Céline, Bouteiller Delphine, Keren Boris, Ruberg Merle, Faudet Anne, Doummar Diane, Philippe Anne, Périsse Didier, Laurent Claudine, Lebrun Nicolas, Guillemot Vincent, Chelly Jamel, Cohen David, Héron Delphine, Brice Alexis, Closs Ellen I, Depienne Christel

Abstract excerpt

Cationic amino acid transporters (CATs) mediate the entry of L-type cationic amino acids (arginine, ornithine and lysine) into the cells including neurons. CAT-3, encoded by the SLC7A3 gene on chromosome X, is one of the three CATs present in the human genome, with selective expression in brain....

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Identifiers

PMID: 26215737
DOI: 10.1007/s00726-015-2057-3
PMCID: PMC4633447

Genes

CAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26215737-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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