Author

Guillaume Jouret

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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

Open access Jul 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.

Nathalie Vanden Eynde, L. Hérissant, E. Landais et al. · Clinical Genetics · 0 citations