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Article

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.

The Journal of biological chemistry - 21 Jun 2002

Toompuu Marina, Yasukawa Takehiro, Suzuki Tsutomu, Hakkinen Terhi, Spelbrink Johannes N, Watanabe Kimitsuna, Jacobs Howard T

Abstract excerpt

The 7472insC mitochondrial DNA mutation in the tRNA(Ser(UCN)) gene is associated with sensorineural deafness combined, in some patients, with a wider neurological syndrome. In cultured cybrid cells it causes a 70% decrease in tRNA(Ser(UCN)) abundance and mild respiratory impairment, previously suggested to be due to decreased tRNA stability. When mitochondrial transcription was blocked by ethidium bromide...

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Source

Identifiers

PMID: 11919191
DOI: 10.1074/jbc.M200338200

Genes

UCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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