Comprehensive assessment of recessive, pathogenic AARS1 alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects
Molly E. Kuo, Maclaine Parish, Kira E. Jonatzke, Anthony Antonellis
The paper evaluates AARS1 variants in a humanized yeast model, finding loss-of-function effects and identifying a variant with both recessive and dominant-negative effects.
bioRxiv · Jun 20, 2024 · PreprintGenetics