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.

The paper investigates TARS1 loss-of-function mutations using engineered variants in yeast and mouse models, revealing new clinical phenotypes and heterogeneity.

The paper demonstrates that neuropathy-associated AARS1 mutations exhibit dominant-negative effects by reducing yeast growth when co-expressed with wild-type AARS1.