Falk F. R. Buettner

This study identifies fibrocystin and fibrocystin-L as TMEM260 substrates, showing that TMEM260-mediated O-mannosylation is disrupted by disease-associated mutations, potentially linking TMEM260 dysfunction to renal phenotypes in SHDRA and ARPKD.

This study shows that modGLA mRNA therapy reverses Fabry disease phenotypes in human iPSC-derived cardiomyocytes by restoring enzyme activity and normalizing molecular alterations.