The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalomyopathy pathogenic mutation
Abstract
A mitochondrial tRNA(Lys) gene mutation at nucleotide position 8344 is responsible for the myoclonus epilepsy associated with ragged-red fibers (MERRF) subgroup of mitochondrial encephalomyopathies. Here, we show that normally modified uridine at the anticodon wobble position remains unmodified in the purified mutant tRNA(Lys). We have reported a similar modification defect at the same position in two mutant mitochondrial tRNAs(Leu)(UUR) in another subgroup, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), indicating this defect is common in the two kinds of tRNA molecules with the respective mutations of the two major mitochondrial encephalomyopathies. We therefore suggest the defect in the anticodon is responsible, through the translational process, for the pathogenesis of mitochondrial diseases.
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“Similarly, posttranscriptional modifications of mt-tRNA Lys m.8344A N G mutant mt-tRNAs are also dependent on nuclear background [196,198].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [198]
In the citing paper
“Finally, decreased mt-tRNA stability has been described with the m.8344A N G mutation both in vitro and in cybrid osteosarcoma cells [198,202].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [198]
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Metadata
- Authors
- Yasukawa, T., Suzuki, T., Ishii, N., Ueda, T., Ohta, S., & Watanabe, K.
- Affiliations
- The University of Tokyo (JP)
- Nippon Medical School (JP)
- Corresponding author
- Ohta, Shigeo
- Watanabe, Kimitsuna
- Venue
- FEBS Letters
- Publisher
- Wiley
- Published
- 2000-02-07
- Volume
- 467
- Issue
- 2-3
- Pages
- 175-178
- ISSN
- 0014-5793 (ISSN-L)
- 1873-3468
- OpenAlex
- W1979951442
- Cited by
- 124
- References
- 31
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 3 · 2023: 2 · 2022: 5 · 2021: 9 · 2020: 9 · 2019: 3 · 2018: 5 · 2017: 5 · 2016: 5 · 2015: 5 · 2014: 6 · 2013: 2 · 2012: 3
- FWCI
- 2.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- FEBS Letters (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA modifications and cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Keywords
- MERRF, mitochondrial encephalomyopathy, MELAS, translation (biology)
- MeSH terms
- Anticodon, Cell Line, HeLa Cells, Humans, Mitochondria, Mutation, RNA, Transfer, Leu, RNA, Transfer, Lys, Uridine, Mitochondrial Myopathies, MELAS Syndrome, MERRF Syndrome, Point Mutation
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