Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 su...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ethidium
Share to Guanosine
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oligonucleotides

Share to Oxygen

Share to RNA Processing, Post-Transcriptional

Share to RNA, Transfer

Share to RNA, Transfer, Ser

Source

Identifiers

PMID: 11919191
DOI: 10.1074/jbc.M200338200

Genes

UCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11919191-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.PMID 11919191Read ↗

Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation.Semantic proximity Read ↗

Disorders of mitochondrial protein synthesis.Semantic proximity Read ↗

The role of mitochondrial DNA mutations in hearing loss.Semantic proximity Read ↗

Mitochondrial tRNA mutations associated with deafness.Semantic proximity Read ↗

Human mitochondrial tRNA quality control in health and disease: a channelling mechanism?Semantic proximity Read ↗

Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.Semantic proximity Read ↗

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease.Semantic proximity Read ↗

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.Semantic proximity Read ↗

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.Semantic proximity Read ↗

Deafness-associated tRNAPhe mutation impaired mitochondrial and cellular integrity.Semantic proximity Read ↗

The mammalian rapid tRNA decay pathway is critical for N⁷-methylguanosine-hypomodified tRNA degradation under physiological conditionsSemantic proximity Read ↗

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.