TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

doi:10.1038/s41467-023-36277-7

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Article

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Nature communications - 23 Feb 2023

Van Haute Lindsey, O'Connor Emily, Díaz-Maldonado Héctor, Munro Benjamin, Polavarapu Kiran, Hock Daniella H, Arunachal Gautham, Athanasiou-Fragkouli Alkyoni, Bardhan Mainak, Barth Magalie, Bonneau Dominique, Brunetti-Pierri Nicola, Cappuccio Gerarda, Caruana Nikeisha J, Dominik Natalia, Goel Himanshu, Helman Guy, Houlden Henry, Lenaers Guy, Mention Karine, Murphy David, Nandeesh Bevinahalli, Olimpio Catarina, Powell Christopher A, Preethish-Kumar Veeramani, Procaccio Vincent, Rius Rocio, Rebelo-Guiomar Pedro, Simons Cas, Vengalil Seena, Zaki Maha S, Ziegler Alban, Thorburn David R, Stroud David A, Maroofian Reza, Christodoulou John, Gustafsson Claes, Nalini Atchayaram, Lochmüller Hanns, Minczuk Michal, Horvath Rita

Abstract excerpt

Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA biology. The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36823193
DOI: 10.1038/s41467-023-36277-7
PMCID: PMC9950373

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