(Q43937103)

English

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

scientific article published on 27 March 2002

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scholarly article

1 reference

Europe PubMed Central

28 November 2017

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

1 reference

Europe PubMed Central

28 November 2017

mitochondrial DNA

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3

1 reference

Europe PubMed Central

28 November 2017

Johannes N Spelbrink

5

1 reference

Europe PubMed Central

28 November 2017

author name string

Marina Toompuu

1

1 reference

Europe PubMed Central

28 November 2017

Takehiro Yasukawa

2

1 reference

Europe PubMed Central

28 November 2017

Terhi Hakkinen

4

1 reference

Europe PubMed Central

28 November 2017

Kimitsuna Watanabe

6

1 reference

Europe PubMed Central

28 November 2017

Howard T Jacobs

7

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Europe PubMed Central

28 November 2017

language of work or name

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publication date

27 March 2002

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Europe PubMed Central

28 November 2017

Journal of Biological Chemistry

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Europe PubMed Central

28 November 2017

277

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Europe PubMed Central

28 November 2017

22240-22250

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Europe PubMed Central

28 November 2017

25

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Europe PubMed Central

28 November 2017

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Mitochondrial DNA and RNA processing in MELAS.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Phy M: an RNase activity specific for U and A residues useful in RNA sequence analysis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Higher-order structure of bovine mitochondrial tRNA(Phe) lacking the 'conserved' GG and T psi CG sequences as inferred by enzymatic and chemical probing.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

A mitochondrial elongation factor-like protein is over-expressed in tumours and differentially expressed in normal tissues

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Compilation of tRNA sequences and sequences of tRNA genes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

A novel cloverleaf structure found in mammalian mitochondrial tRNA(Ser) (UCN).

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Evidence for aminoacylation-induced conformational changes in human mitochondrial tRNAs.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Mitochondria-associated ribonucleic acid of the HeLa cell. Effect of ethidium bromide on the synthesis of ribosomal and 4S ribonucleic acid

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Synthesis and turnover of mitochondrial ribonucleic acid in HeLa cells: the mature ribosomal and messenger ribonucleic acid species are metabolically unstable

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Additional copies of the mitochondrial Ef-Tu and aspartyl-tRNA synthetase genes can compensate for a mutation affecting the maturation of the mitochondrial tRNAAsp

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Ts mutations in mitochondrial tRNA genes: characterization and effects of two point mutations in the mitochondrial gene for tRNAphe in Saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Human tRNASer gene organization and a tRNASer gene sequence

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Site selection by Xenopus laevis RNAase P.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

The RNase P associated with HeLa cell mitochondria contains an essential RNA component identical in sequence to that of the nuclear RNase P.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Human mitochondrial tRNA processing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

The long extra arms of human tRNA((Ser)Sec) and tRNA(Ser) function as major identify elements for serylation in an orientation-dependent, but not sequence-specific manner

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Dual mode recognition of two isoacceptor tRNAs by mammalian mitochondrial seryl-tRNA synthetase.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Functional defects of pathogenic human mitochondrial tRNAs related to structural fragility

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

The effects of matrices of paired substitutions in mid-acceptor stem on Drosophila tRNA(His) structure and end-processing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

tRNA punctuation model of RNA processing in human mitochondria

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200338200

21 January 2018

Identifiers

10.1074/JBC.M200338200

1 reference

Europe PubMed Central

28 November 2017

1 reference

Europe PubMed Central

28 November 2017

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