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Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency
Open accessAbstract
Although most components of the mitochondrial translation apparatus are encoded by nuclear genes, all known molecular defects associated with impaired mitochondrial translation are due to mutations in mitochondrial DNA. We investigated two siblings with a severe defect in mitochondrial translation, reduced levels of oxidative phosphorylation complexes containing mitochondrial DNA (mtDNA)-encoded subunits, and progressive hepatoencephalopathy. We mapped the defective gene to a region on chromosome 3q containing elongation factor G1 (EFG1), which encodes a mitochondrial translation factor. Sequencing of EFG1 revealed a mutation affecting a conserved residue of the guanosine triphosphate (GTP)-binding domain. These results define a new class of gene defects underlying disorders of oxidative phosphorylation.
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Cited by
Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation
Kendrick, A. A., Choudhury, M., Rahman, S. M., McCurdy, C. E., Friederich, M., Van Hove, J. L. K., Watson, P. A., Birdsey, N., Bao, J., Gius, D., et al. (2011) · Biochemical Journal · doi:10.1042/bj20100791 · Cited by 382
Organization and regulation of mitochondrial protein synthesis
Ott, M., Amunts, A., & Brown, A. (2016) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060815-014334 · Cited by 282
Smits, P., Smeitink, J., & van den Heuvel, L. (2010) · Journal of Biomedicine and Biotechnology · doi:10.1155/2010/737385 · Cited by 202
Self-citationJaberi, E., Chitsazian, F., Ali Shahidi, G., Rohani, M., Sina, F., Safari, I., Malakouti Nejad, M., Houshmand, M., Klotzle, B., & Elahi, E. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.45 · Cited by 33
Metadata
- Authors
- Coenen, M. J. H., Antonicka, H., Ugalde, C., Sasarman, F., Rossi, R., Heister, J. G. A. M. A., Newbold, R. F., Trijbels, F. J. M. F., van den Heuvel, L. P., Shoubridge, E. A., & Smeitink, J. A. M.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2004-11-11
- Volume
- 351
- Issue
- 20
- Pages
- 2080-2086
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2131293378
- Cited by
- 198
- References
- 0
- FWCI
- 3.72
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Coenen, M. J. H., Antonicka, H., Ugalde, C., Sasarman, F., Rossi, R., Heister, J. G. A. M. A., Newbold, R. F., Trijbels, F. J. M. F., van den Heuvel, L. P., Shoubridge, E. A., & Smeitink, J. A. M. (2004). Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency. New England Journal of Medicine. https://doi.org/10.1056/nejmoa041878
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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