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Article

The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.

Nucleic acids research - 10 Aug 2026

Rebelo-Guiomar Pedro, Kra-Oz Nadav, Powell Christopher, Jouret Guillaume, Plutino Morgane, Paquis-Flucklinger Veronique, Schwartz Schraga, Sas-Chen Aldema, Minczuk Michal

Abstract excerpt

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 enzymes responsible for this modification-pseudouridine synthases (PUS)-have been identified. Although known...

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Identifiers

PMID: 42598855
DOI: 10.1093/nar/gkag805
PMCID: PMC13473875

Genes

PUSL1

Variants

Provenance

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