Article

A Cell-Based Assay to Categorize Variants of Human Succinate Semialdehyde Dehydrogenase Associated with Autism Spectrum Disorder

2026-01-16

Abstract excerpt

<h4>ABSTRACT</h4> Many genes are implicated in autism spectrum disorder (ASD) as a result of sequencing the genomes of individuals with ASD, however in most cases it remains unclear which genes are playing causative roles. ALDH5A1 , which encodes the enzyme succinate semialdehyde dehydrogenase (SSADH), an important regulator of GABA metabolism, is causative in the syndrome SSADH deficiency and is also implicated...

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Literature Corpus work: c96cd0d2-25ec-5f29-aca7-8491b5a0272c
DOI: 10.64898/2026.01.15.699751

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