Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Originalsprog | Engelsk |
---|---|
Tidsskrift | Human Molecular Genetics |
Vol/bind | 32 |
Udgave nummer | 15 |
Sider (fra-til) | 2441-2454 |
Antal sider | 14 |
ISSN | 0964-6906 |
DOI | |
Status | Udgivet - 2023 |
Bibliografisk note
Funding Information:
This research was supported by grants and fellowships from the Australian National Health and Medical Research Council (1140851, 1164479, 1159456, 1155244, 2009732 plus 111353 to the Australian Genomics Health Alliance), plus grants from the US Department of Defense Congressionally Directed Medical Research Programs PR170396, the Australian Mito Foundation, the Vincent Chiodo Charitable Trust and the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to JC is generously supported by The Royal Children’s Hospital Foundation. We acknowledge the Bio21 Mass Spectrometry and Proteomics Facility (MMSPF) for the provision of instrumentation, training, and technical support. The Yale Center for Mendelian Genomics (NIH M#UM1HG006504-05) is funded by the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute. The GSP Coordinating Center (U24 HG008956) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. DHH is supported by a Melbourne International Research Scholarship and the Mito Foundation PhD Top-up Scholarship. VKM is an Investigator at the Howard Hughes Medical Institute.
Publisher Copyright:
© 2023 The Author(s). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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