(Q41779514)

English

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.

scientific article published on 5 September 2015

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23 February 2020

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease (English)

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23 February 2020

Zofia M Chrzanowska-Lightowlers

5

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23 February 2020

Laura C Greaves

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23 February 2020

Anton Vila-sanjurjo

7

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23 February 2020

Robert William Taylor

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Robert W Taylor

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23 February 2020

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Joanna L Elson

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23 February 2020

Paul M Smith

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23 February 2020

Robert N Lightowlers

4

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23 February 2020

publication date

5 September 2015

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23 February 2020

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23 February 2020

25

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23 February 2020

17-27

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23 February 2020

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

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Heterologous inferential analysis (HIA) as a method to understand the role of mitochondrial rRNA mutations in pathogenesis.

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6 June 2018

Structure of the large ribosomal subunit from human mitochondria.

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The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

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Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human disease

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The ribosome as a hub for protein quality control

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Evaluation of a mitochondrial DNA mutation in maternally inherited and sporadic cases of Dupuytren disease

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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

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MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

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Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients.

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NOA1 is an essential GTPase required for mitochondrial protein synthesis

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Mutations in 23S rRNA at the peptidyl transferase center and their relationship to linezolid binding and cross-resistance

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Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit

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Analysis of the functional consequences of lethal mutations in mitochondrial translational elongation factors

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Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts

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6 June 2018

Mitochondrial DNA mutations and human disease

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6 June 2018

The diversity present in 5140 human mitochondrial genomes

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6 June 2018

Insights into substrate stabilization from snapshots of the peptidyl transferase center of the intact 70S ribosome

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Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review

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Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids

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Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells

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Strong purifying selection in transmission of mammalian mitochondrial DNA

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6 June 2018

Novel mutations in ribosomal proteins L4 and L22 that confer erythromycin resistance in Escherichia coli

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6 June 2018

Frequency and phenotypic implications of mitochondrial DNA mutations in human squamous cell cancers of the head and neck

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6 June 2018

An enhanced MITOMAP with a global mtDNA mutational phylogeny

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6 June 2018

Structure of the 70S ribosome complexed with mRNA and tRNA

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6 June 2018

Nonbridging phosphate oxygens in 16S rRNA important for 30S subunit assembly and association with the 50S ribosomal subunit

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6 June 2018

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

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6 June 2018

Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

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6 June 2018

UCSF Chimera--a visualization system for exploratory research and analysis

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6 June 2018

Mitochondrial DNA mutations in human colonic crypt stem cells

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6 June 2018

MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform

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6 June 2018

The ribosomal exit tunnel functions as a discriminating gate

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6 June 2018

The comparative RNA web (CRW) site: an online database of comparative sequence and structure information for ribosomal, intron, and other RNAs

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6 June 2018

Staphylococcus aureus domain V functions in Escherichia coli ribosomes provided a conserved interaction with domain IV is restored

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6 June 2018

Analysis of mutations at residues A2451 and G2447 of 23S rRNA in the peptidyltransferase active site of the 50S ribosomal subunit

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6 June 2018

Crystal structure of the ribosome at 5.5 A resolution

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6 June 2018

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

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6 June 2018

Oxazolidinone resistance mutations in 23S rRNA of Escherichia coli reveal the central region of domain V as the primary site of drug action.

1 reference

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6 June 2018

The structural basis of ribosome activity in peptide bond synthesis

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6 June 2018

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

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Somatic mutations of the mitochondrial genome in human colorectal tumours

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6 June 2018

Structure of a 16-mer RNA duplex r(GCAGACUUAAAUCUGC)2 with wobble C.A+ mismatches

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6 June 2018

Mutations at nucleotides G2251 and U2585 of 23 S rRNA perturb the peptidyl transferase center of the ribosome

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6 June 2018

The donor substrate site within the peptidyl transferase loop of 23 S rRNA and its putative interactions with the CCA-end of N-blocked aminoacyl-tRNA(Phe).

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6 June 2018

Conserved nucleotides of 23 S rRNA located at the ribosomal peptidyltransferase center.

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6 June 2018

Mutational analysis of two highly conserved UGG sequences of 23 S rRNA from Escherichia coli.

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Transition mutations in the 23S rRNA of erythromycin-resistant isolates of Mycoplasma pneumoniae

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6 June 2018

Mutations at U2555, a tRNA-protected base in 23S rRNA, affect translational fidelity

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6 June 2018

The importance of conserved nucleotides of 23 S ribosomal RNA and transfer RNA in ribosome catalyzed peptide bond formation.

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6 June 2018

Requirement for a conserved, tertiary interaction in the core of 23S ribosomal RNA.

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6 June 2018

A conserved secondary structural motif in 23S rRNA defines the site of interaction of amicetin, a universal inhibitor of peptide bond formation

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6 June 2018

A base pair between tRNA and 23S rRNA in the peptidyl transferase centre of the ribosome

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6 June 2018

Ribosome-catalyzed peptidyl transfer: substrate specificity at the P-site

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6 June 2018

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

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18 August 2018

Deciphering the signature of selective constraints on cancerous mitochondrial genome

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18 August 2018

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

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18 August 2018

Methylated 23S rRNA nucleotide m2G1835 of Escherichia coli ribosome facilitates subunit association.

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18 August 2018

Accumulation of mutations over the entire mitochondrial genome of breast cancer cells obtained by tissue microdissection.

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18 August 2018

Mitochondrial DNA mutations in disease and aging.

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18 August 2018

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

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18 August 2018

Molecular mechanism of drug-dependent ribosome stalling

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18 August 2018

Functional analysis of the residues C770 and G771 of E. coli 16S rRNA implicated in forming the intersubunit bridge B2c of the ribosome.

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18 August 2018

Selection for intragenic suppressors of lethal 23S rRNA mutations in Escherichia coli identifies residues important for ribosome assembly and function.

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18 August 2018

Mitochondrial mutations are a late event in the progression of head and neck squamous cell cancer.

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18 August 2018

A conserved base-pair between tRNA and 23 S rRNA in the peptidyl transferase center is important for peptide release.

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18 August 2018

Deletion of a conserved, central ribosomal intersubunit RNA bridge

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18 August 2018

Mutations in the intersubunit bridge regions of 23 S rRNA.

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18 August 2018

Functional epitopes at the ribosome subunit interface.

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18 August 2018

Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

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18 August 2018

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

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18 August 2018

Protected nucleotide G2608 in 23S rRNA confers resistance to oxazolidinones in E. coli

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18 August 2018

Identification of a novel mitochondrial mutation in Dupuytren's disease using multiplex DHPLC.

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18 August 2018

The active site of the ribosome is composed of two layers of conserved nucleotides with distinct roles in peptide bond formation and peptide release

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18 August 2018

Study of the functional interaction of the 900 Tetraloop of 16S ribosomal RNA with helix 24 within the bacterial ribosome.

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18 August 2018

The critical role of the universally conserved A2602 of 23S ribosomal RNA in the release of the nascent peptide during translation termination.

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18 August 2018

A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.

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18 August 2018

The involvement of two distinct regions of 23 S ribosomal RNA in tRNA selection.

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18 August 2018

A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy

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https://pubmed.ncbi.nlm.nih.gov/26349026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Concomitant presence of mutations in mitochondrial genome and p53 in cancer development - a study in north Indian sporadic breast and esophageal cancer patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/26349026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial mutations in early stage prostate cancer and bodily fluids

1 reference

https://pubmed.ncbi.nlm.nih.gov/26349026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.MITO.2015.08.004

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26349026%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26349026%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26349026%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

ResearchGate publication ID

0 references

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