Topic: GRIN2B

Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of genetic variants were reported to be highly penetrant and causative of ASD. Many of these mutations cause comorbidities such as epilepsy and intellectual disabilities (ID). In this study, we measured cortical neurons derived from induced pluripotent stem cells (iPSCs) of patients with four mutations in the genes GRIN2B, SHANK3, UBTF, as well as chromosomal duplication in the 7q11.23 region and compared them to neurons derived from

The NEGR1 (neuronal growth regulator 1) gene has been associated with schizophrenia phenotype in GWAS studies and its expression has been found to be altered in the brains of patients with schizophrenia spectrum disorders. As altered profile of circulating kynurenine pathway metabolites has been linked with schizophrenia spectrum disorders as well, we aimed to find the differences in the brain and blood serum metabolite levels between wild-type mice and Negr1-deficient mice using MK-801 (dizocilpine) and a high-fat diet. The results suggest that kynurenine metabolism is strongly biased towards