Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

doi:10.1093/hmg/ddad069

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Article

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Human molecular genetics - 20 Jul 2023

Amarasekera Sumudu S C, Hock Daniella H, Lake Nicole J, Calvo Sarah E, Grønborg Sabine W, Krzesinski Emma I, Amor David J, Fahey Michael C, Simons Cas, Wibrand Flemming, Mootha Vamsi K, Lek Monkol, Lunke Sebastian, Stark Zornitza, Østergaard Elsebet, Christodoulou John, Thorburn David R, Stroud David A, Compton Alison G

Abstract excerpt

MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the mitoribosome synthesizes the 13 subunits of the mitochondrial oxidative phosphorylation (OXPHOS) system encoded by mitochondrial Deoxyribonucleic acid (DNA). We used multi-omics and gene matching to identify three unrelated individuals with...

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PMID: 37133451
DOI: 10.1093/hmg/ddad069
PMCID: PMC10360397

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