Open access
Aug 2026
The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes
Abstract Variants in the mitochondrial and nuclear genomes are linked to a wide range of human disorders marked by impaired mitochondrial function. Among these disorders, there is a growing number of patients with variants affecting mitochondrial RNA biology. Mitochondrial transcripts are pseudouridylated, and some enz...
Pedro Rebelo-Guiomar, Nadav Kra-Oz, Christopher A. Powell et al.
· Nucleic Acids Research · 0 citations