Article
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
Molecular genetics & genomic medicine - 1 Jan 2020
Cascio Lauren, Chen Chin-Fu, Pauly Rini, Srikanth Sujata, Jones Kelly, Skinner Cindy D, Stevenson Roger E, Schwartz Charles E, Boccuto Luigi
Abstract excerpt
BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder whose molecular mechanisms are largely unknown. Several studies have shown an association between ASD and abnormalities in the metabolism of amino acids, specifically tryptophan and branched-chain amino acids (BCAAs). METHODS: Ninety-seven patients with ASD were screened by Sanger sequencing the genes encoding the heavy (SLC3A2)...
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