Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number (Q41231391)

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scientific article published on February 1996

Language	Label	Description	Also known as
English	Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number	scientific article published on February 1996

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scholarly article

1 reference

Europe PubMed Central

28 September 2017

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number (English)

1 reference

Europe PubMed Central

28 September 2017

author name string

Bentlage HA

1

1 reference

Europe PubMed Central

28 September 2017

Attardi G

2

1 reference

Europe PubMed Central

28 September 2017

publication date

1 February 1996

1 reference

Europe PubMed Central

28 September 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

28 September 2017

5

1 reference

Europe PubMed Central

28 September 2017

2

1 reference

Europe PubMed Central

28 September 2017

197-205

1 reference

Europe PubMed Central

28 September 2017

Mitochondrial DNA mutations in diseases of energy metabolism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Mitochondrial encephalomyopathies: clinical and molecular analysis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

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/10.1093%2FHMG%2F5.2.197

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Human cell mutants with very low mitochondrial DNA copy number (rho d).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Mitochondrial DNA sequence variation in human evolution and disease.

1 reference

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21 January 2018

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Point mutations of mitochondrial genome in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

An extrachromosomal plasmid is the etiological precursor of kalDNA insertion sequences in the mitochrondrial chromosome of senescent neurospora

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.197

21 January 2018

Identifiers

10.1093/HMG/5.2.197

1 reference

Europe PubMed Central

28 September 2017

1 reference

Europe PubMed Central

28 September 2017

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