Fig. 5. Putative disease mechanism for autosomal recessive ARS deficiencies.

(a) Overview of the pathogenic variations found in autosomal recessive ARS deficiencies, concentrated in the domains associated with the canonical function in protein translation. The novel pathogenic variations described for P1–P5 are underlined. (b) Schematic representation of the putative disease mechanism: insufficient aminoacylation to meet translational demand in specific organs or periods. tRNA transfer RNA