Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

Abstract Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate d...

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Main Authors: Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk
Format: Article
Language:English
Published: Springer Nature 2024-11-01
Series:EMBO Molecular Medicine
Subjects:
Exome Sequencing
Lactic Acidosis
Mitochondrial Disease
RNA Processing
tRNA
Online Access:https://doi.org/10.1038/s44321-024-00172-5
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