The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease
Open accessAbstract
Point mutations in the mitochondrial (mt) tRNA Leu(UUR) gene are responsible for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a subgroup of mitochondrial encephalomyopathic diseases. We previously showed that mt tRNA Leu(UUR) with an A3243G or T3271C mutation derived from patients with MELAS are deficient in a normal taurine-containing modification (τm 5 U; 5-taurinomethyluridine) at the anticodon wobble position. To examine decoding disorder of the mutant tRNA due to the wobble modification deficiency independent of the pathogenic point mutation itself, we used a molecular surgery technique to construct an mt tRNA Leu(UUR) molecule lacking the taurine modification but without the pathogenic mutation. This “operated” mt tRNA Leu(UUR) without the taurine modification showed severely reduced UUG translation but no decrease in UUA translation. We thus concluded that the UUG codon–specific translational defect of the mutant mt tRNAs Leu(UUR) is the primary cause of MELAS at the molecular level. This result could explain the complex I deficiency observed clinically in MELAS.
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Suzuki, T., & Suzuki, T. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku390 · Cited by 309
Self-citationSchaffer, S. W., Azuma, J., & Mozaffari, M. (2009) · Canadian Journal of Physiology and Pharmacology · doi:10.1139/y08-110 · Cited by 307
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Metadata
- Authors
- Kirino, Y., Yasukawa, T., Ohta, S., Akira, S., Ishihara, K., Watanabe, K., & Suzuki, T.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2004-10-11
- Volume
- 101
- Issue
- 42
- Pages
- 15070-15075
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2088112980
- Cited by
- 288
- References
- 53
- FWCI
- 3.83
- Type
- journal article
- Language
- en
- Open access
- green
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- Kirino, Y., Yasukawa, T., Ohta, S., Akira, S., Ishihara, K., Watanabe, K., & Suzuki, T. (2004). Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0405173101
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