CORDIS Project
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This project investigates the relationship between branched chain amino acids and Autism Spectrum Disorders (ASD). It aims to explore potential treatments using these amino acids and to identify molecular changes in brain development linked to genetic mutations associated with ASD.
Autism Spectrum Disorders (ASD) are a group of neurological conditions characterized by stereotypical or repetitive behaviours as well as impairments in social interaction and communication skills, often of genetic basis. ASD have been classified as neurodevelopmental disorders, implying irreversible defects in the maturation of neural circuits.
We have shown that mutations in the Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK) gene lead to a potentially preventable and reversible form of A…
INSTITUTE OF SCIENCE AND TECHNOLOGY AUSTRIA
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