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Paper Details

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
4
2023
Leigh syndrome, MRPL15, MRPL39, MRPL39 variants, cryptic exon, deep intronic MRPL39 variant, fibroblasts, inherited rare diseases, missense variant, mitochondrial Deoxyribonucleic acid, mitochondrial disease, mitoribosomal genes, multisystem diseases, patient, patients
Author NameAffiliation
Sarah E CalvoBroad Institute
Sarah E CalvoHarvard Medical School
Sarah E CalvoHoward Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital
Vamsi K MoothaBroad Institute
Vamsi K MoothaHarvard Medical School
Vamsi K MoothaHoward Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital
Vamsi K MoothaBroad Institute
Vamsi K MoothaHoward Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital
Vamsi K MoothaHarvard Medical School
Monkol LekYale School of Medicine
Zornitza StarkUniversity of Melbourne
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute
Zornitza Stark
John ChristodoulouMurdoch Children's Research Institute, Royal Children's Hospital
John ChristodoulouUniversity of Melbourne
John ChristodoulouVictorian Clinical Genetics Services, Murdoch Children's Research Institute
John Christodoulou
John ChristodoulouSydney Medical School, University of Sydney
David R ThorburnMurdoch Children's Research Institute, Royal Children's Hospital
David R ThorburnUniversity of Melbourne
David R ThorburnVictorian Clinical Genetics Services, Murdoch Children's Research Institute
David R Thorburn
Alison G ComptonMurdoch Children's Research Institute, Royal Children's Hospital
Alison G ComptonUniversity of Melbourne
Alison G ComptonVictorian Clinical Genetics Services, Murdoch Children's Research Institute
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