improving protein folding and trafficking of pathogenic PC1 variants.The allele-dependent effectiveness of PBA indicates its potential as a personalized treatment strategy, specifically benefiting patients with hypomorphic mutations.Further clinical investigations are warranted to validate these promising preclinical outcomes.I have no potential conflict of interest to disclose.I did not use generative AI and AI-assisted technologies in the writing process.
Bidin et al. (Wed,) studied this question.