Mitochondrial tRNA mutations and disease (Q26828352)

Robert William Taylor

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5

object named as

Robert W. Taylor

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John W. Yarham

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Joanna L. Elson

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2

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Robert McFarland

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4

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language of work or name

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September 2010

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Wiley interdisciplinary reviews. RNA

published in

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volume

1

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issue

2

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page(s)

304-24

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Mitochondrial DNA repair and aging

cites work

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THE RELATION OF RECOMBINATION TO MUTATIONAL ADVANCE

21 January 2018

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In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

21 January 2018

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

21 January 2018

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

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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.

21 January 2018

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Novel Mitochondrial Transfer RNAPhe Gene Mutation Associated With Late-Onset Neuromuscular Disease

21 January 2018

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7 January 2021

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

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7 January 2021

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features

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7 January 2021

Reintroduction of a characterized Mit tRNA glycine mutation into yeast mitochondria provides a new tool for the study of human neurodegenerative diseases

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7 January 2021

Mitochondrial DNA mutations in human disease.

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7 January 2021

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy

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7 January 2021

Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects

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7 January 2021

Prevalence of mitochondrial DNA disease in adults

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7 January 2021

Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects

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7 January 2021

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

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7 January 2021

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

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7 January 2021

Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells

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7 January 2021

Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys

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7 January 2021

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

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7 January 2021

Mitochondrial defects and hearing loss

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7 January 2021

Nucleotide substitution rate of mammalian mitochondrial genomes

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7 January 2021

Human mitochondrial tRNAs in health and disease.

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7 January 2021

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation

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7 January 2021

Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?

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7 January 2021

Analysis and manipulation of yeast mitochondrial genes

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7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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7 January 2021

Pathogenic mitochondrial DNA mutations are common in the general population

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7 January 2021

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

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7 January 2021

Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

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7 January 2021

RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype

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7 January 2021

Mutations in yeast mt tRNAs: specific and general suppression by nuclear encoded tRNA interactors

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7 January 2021

Population prevalence of the MELAS A3243G mutation.

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7 January 2021

Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.

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7 January 2021

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

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7 January 2021

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

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7 January 2021

Can yeast be used to study mitochondrial diseases? Biolistic tRNA mutants for the analysis of mechanisms and suppressors

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7 January 2021

tRNA mitochondrial import in yeast: Mapping of the import determinants in the carrier protein, the precursor of mitochondrial lysyl-tRNA synthetase

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7 January 2021

Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells?

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7 January 2021

Mitochondrial myopathy associated with a novel mutation in mtDNA.

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7 January 2021

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

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7 January 2021

The mitochondrial genome: structure, transcription, translation and replication

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7 January 2021

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

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7 January 2021

Towards understanding human mitochondrial leucine aminoacylation identity.

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7 January 2021

Codon--anticodon pairing: the wobble hypothesis

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7 January 2021

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

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7 January 2021

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

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7 January 2021

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

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7 January 2021

The crystal structure of Cys-tRNACys-EF-Tu-GDPNP reveals general and specific features in the ternary complex and in tRNA

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7 January 2021

Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations

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7 January 2021

Search for characteristic structural features of mammalian mitochondrial tRNAs.

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7 January 2021

An aminoacyl-tRNA synthetase with a defunct editing site.

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7 January 2021

Mitochondrial genotype and clinical phenotype

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7 January 2021

Transfer of chloramphenicol-resistant mitochondrial DNA into the chimeric mouse

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7 January 2021

Mitochondria transfer into mouse ova by microinjection

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7 January 2021

A different genetic code in human mitochondria

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7 January 2021

Sequence and organization of the human mitochondrial genome

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7 January 2021

tRNA punctuation model of RNA processing in human mitochondria

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7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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7 January 2021

Mitochondrial genome variation and the origin of modern humans

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7 January 2021

Initial sequencing and analysis of the human genome

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7 January 2021

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

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7 January 2021

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

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7 January 2021

Time dependency of molecular rate estimates for mtDNA: this is not the time for wishful thinking

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7 January 2021

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

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7 January 2021

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

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7 January 2021

A mitochondrial tRNA anticodon swap associated with a muscle disease

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7 January 2021

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

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7 January 2021

The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells.

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7 January 2021

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

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7 January 2021

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

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7 January 2021

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

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7 January 2021

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

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7 January 2021

Mitochondrial DNA mutations in human disease

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7 January 2021

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

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7 January 2021

A unique serine-specific elongation factor Tu found in nematode mitochondria

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7 January 2021

The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.

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7 January 2021

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia

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7 January 2021

CP1-dependent partitioning of pretransfer and posttransfer editing in leucyl-tRNA synthetase

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7 January 2021

Experimental evidence for kinetic proofreading in the aminoacylation of tRNA by synthetase

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7 January 2021

Different pattern of codon recognition by mammalian mitochondrial tRNAs

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7 January 2021

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

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7 January 2021

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

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7 January 2021

Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure.

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7 January 2021

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

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7 January 2021

Recognition of tRNAs by Methionyl-tRNA transformylase from mammalian mitochondria

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7 January 2021

Loss of editing activity during the evolution of mitochondrial phenylalanyl-tRNA synthetase.

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7 January 2021

A viable amino acid editing activity in the leucyl-tRNA synthetase CP1-splicing domain is not required in the yeast mitochondria

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7 January 2021

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

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7 January 2021

Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia

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7 January 2021

Phylogenetic network for European mtDNA.

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7 January 2021

Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection

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7 January 2021

Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis

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7 January 2021

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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7 January 2021

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

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7 January 2021

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

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7 January 2021

Mitochondrial disorders

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7 January 2021

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

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7 January 2021

Gene shifting: a novel therapy for mitochondrial myopathy.

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7 January 2021

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

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7 January 2021

Heterologous mitochondrial DNA recombination in human cells

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7 January 2021

Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.

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7 January 2021

A functionally dominant mitochondrial DNA mutation

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7 January 2021

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

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7 January 2021

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.

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7 January 2021

MITOMAP: an update on the status of the human mitochondrial genome database

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7 January 2021

Universal rules and idiosyncratic features in tRNA identity

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7 January 2021

Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern

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7 January 2021

The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA

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7 January 2021

Interaction of mitochondrial initiation factor 2 with mitochondrial fMet-tRNA.

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7 January 2021

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations

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7 January 2021

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

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7 January 2021

The causes of mutation accumulation in mitochondrial genomes

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7 January 2021

How is the mouse germ-cell lineage established?

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7 January 2021

A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy

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7 January 2021

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

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7 January 2021

Medicine. Sidestepping mutational meltdown

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7 January 2021

Hungry codons promote frameshifting in human mitochondrial ribosomes

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7 January 2021

Models of human evolution

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7 January 2021

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

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7 January 2021

Mitochondrial diseases in man and mouse

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7 January 2021

Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm

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7 January 2021

Fidelity of mammalian DNA polymerases

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7 January 2021

Ribonuclease P: unity and diversity in a tRNA processing ribozyme

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7 January 2021

Molecular genetic aspects of human mitochondrial disorders

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7 January 2021

Mitochondrial DNA and human evolution.

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7 January 2021

Pure myopathy associated with a novel mitochondrial tRNA gene mutation.

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7 January 2021

Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

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7 January 2021

Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures

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7 January 2021

Yeast as a model of human mitochondrial tRNA base substitutions: investigation of the molecular basis of respiratory defects

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7 January 2021

Strong purifying selection in transmission of mammalian mitochondrial DNA

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7 January 2021

New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice

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7 January 2021

The role of selection in the evolution of human mitochondrial genomes

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7 January 2021

Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes

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7 January 2021

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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7 January 2021

Mitochondrial tRNA mutations: clinical and functional perturbations

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7 January 2021

Identifiers

DOI

10.1002/WRNA.27

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Consolidated OpenCitations Corpus – April 2017

1305390

1305390

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

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