Journal article

SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects

A-M Lepagnol-Bestel, G Maussion, B Boda, A Cardona, Y Iwayama, A-L Delezoide, J-M Moalic, D Muller, B Dean, T Yoshikawa, P Gorwood, JD Buxbaum, N Ramoz, M Simonneau

MOLECULAR PSYCHIATRY | NATURE PUBLISHING GROUP | Published : 2008

Abstract

Autism is a neurodevelopmental disorder with a strong genetic component, probably involving several genes. Genome screens have provided evidence of linkage to chromosome 2q31-q33, which includes the SLC25A12 gene. Association between autism and single-nucleotide polymorphisms in SLC25A12 has been reported in various studies. SLC25A12 encodes the mitochondrial aspartate/glutamate carrier functionally important in neurons with high-metabolic activity. Neuropathological findings and functional abnormalities in autism have been reported for Brodmann's area (BA) 46 and the cerebellum. We found that SLC25A12 was expressed more strongly in the post-mortem brain tissues of autistic subjects than in ..

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