(Q24669653)

English

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

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scholarly article

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Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations (English)

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1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Xavier Estivill i Pallejà

20

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object named as

Ester Ballana

17

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Ignacio del Castillo

object named as

Ignacio del Castillo

12

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object named as

Tsutomu Suzuki

11

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Mordechai Shohat

18

object named as

Mordechai Shohat

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Yelena Bykhovskaya

4

object named as

Yelena Bykhovskaya

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author name string

Min-Xin Guan

1

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Qingfeng Yan

2

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Xiaoming Li

3

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Jaime Gallo-Teran

5

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Petr Hajek

6

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Noriko Umeda

7

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Hui Zhao

8

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Gema Garrido

9

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Emebet Mengesha

10

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Jennifer Lynne Peters

13

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Ronghua Li

14

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Yaping Qian

15

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Xinjian Wang

16

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Jianxin Lu

19

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Kimitsuna Watanabe

21

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Nathan Fischel-Ghodsian

22

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language of work or name

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publication date

August 2006

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American Journal of Human Genetics

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79

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2

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291-302

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Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA

1 reference

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7 April 2017

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

7 April 2017

A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

1 reference

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The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.

1 reference

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7 April 2017

Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases

1 reference

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7 April 2017

MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

1 reference

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7 April 2017

MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

7 April 2017

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

7 April 2017

Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

7 April 2017

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

7 April 2017

Translational misreading: a tRNA modification counteracts a +2 ribosomal frameshift

1 reference

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7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

7 April 2017

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

7 April 2017

Interaction of antibiotics with functional sites in 16S ribosomal RNA

1 reference

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7 April 2017

Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Molecular pathogenetic mechanism of maternally inherited deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Candidate locus for a nuclear modifier gene for maternally inherited deafness

1 reference

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28 September 2017

Mitochondrial deafness mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Evidence for the presence of 5S rRNA in mammalian mitochondria

1 reference

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28 September 2017

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

1 reference

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Nuclear-encoded mitochondrial tRNAs ofTrypanosoma bruceihave a modified cytidine in the anticodon loop

1 reference

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28 September 2017

Antisuppressor mutation in Escherichia coli defective in biosynthesis of 5-methylaminomethyl-2-thiouridine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

Pharmacokinetics of aminoglycoside antibiotics in blood, inner-ear fluids and tissues and their relationship to ototoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

In vivo labeling and analysis of human mitochondrial translation products

1 reference

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28 September 2017

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 September 2017

The Escherichia coli trmE (mnmE) gene, involved in tRNA modification, codes for an evolutionarily conserved GTPase with unusual biochemical properties

1 reference

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30 May 2018

Ribosomes and translation

1 reference

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30 May 2018

Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells

1 reference

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30 May 2018

Interaction of tRNAs and of phosphorothioate-substituted nucleic acids with an organomercurial. Probing the chemical environment of thiolated residues by affinity electrophoresis

1 reference

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30 May 2018

Effects of mutagenesis of a conserved base-paired site near the decoding region of Escherichia coli 16 S ribosomal RNA.

1 reference

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30 May 2018

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559489

28 November 2018

MnmA and IscS are required for in vitro 2-thiouridine biosynthesis in Escherichia coli

1 reference

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28 November 2018

Conserved bases in the TPsi C loop of tRNA are determinants for thermophile-specific 2-thiouridylation at position 54.

1 reference

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Accurate translation of the genetic code depends on tRNA modified nucleosides.

1 reference

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28 November 2018

Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation

1 reference

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28 November 2018

Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree

1 reference

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Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

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28 November 2018

Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

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based on heuristic

inferred from PubMed ID database lookup

The paromomycin resistance mutation (parr-454) in the 15 S rRNA gene of the yeast Saccharomyces cerevisiae is involved in ribosomal frameshifting

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compilation of small ribosomal subunit RNA sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Novel Modified Nucleoside Found at the First Position of the Anticodon of Methionine tRNA from Bovine Liver Mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

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based on heuristic

inferred from PubMed ID database lookup

Interactions of a small RNA with antibiotic and RNA ligands of the 30S subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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