A Cell-Based Assay to Categorize Variants of Human Succinate Semialdehyde Dehydrogenase Associated with Autism Spectrum Disorder
Barry P. Young, Isaac Robinson, Jessica Schmitt, Brian T. F. Wu, Jie Liu, Jesse T. Chao, Sanja Rogić, Paul Pavlidis, Douglas W. Allan, Christopher J. R. Loewen
The paper develops a yeast growth assay to assess the functional impact of ALDH5A1 variants linked to autism spectrum disorder, showing they range from loss of function to normal activity.
bioRxiv · Jan 16, 2026 · PreprintNeuroscience