(Q35946532)

English

Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

mitochondrial DNA

0 references

Patrick F. Chinnery

4

object named as

Patrick F Chinnery

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

author name string

Steve E Durham

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

David C Samuels

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Lynsey M Cree

3

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

language of work or name

0 references

publication date

23 May 2007

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

81

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

189-195

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Mitochondrial DNA mutations in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Human mitochondrial tRNAs in health and disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Mitochondrial respiratory-chain diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

2 October 2017

Relaxed replication of mtDNA: A model with implications for the expression of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

11 July 2018

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

11 July 2018

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

24 September 2018

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

24 September 2018

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

24 September 2018

Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

24 September 2018

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

24 September 2018

A model of the nuclear control of mitochondrial DNA replication.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

24 September 2018

Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950909

24 September 2018

The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

ResearchGate publication ID

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