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

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1990 • 1,390 citations

DISEASES OF THE MITOCHONDRIAL DNA

1992 • 1,294 citations

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

1989 • 722 citations

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.

1992 • 490 citations

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

1992 • 426 citations

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.

1992 • 336 citations

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

1992 • 330 citations

Liver mitochondrial respiratory functions decline with age

1989 • 322 citations

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

1991 • 297 citations

Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA

1988 • 275 citations

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

1990 • 248 citations

Rapid segregation of heteroplasmic bovine mitodiondria

1989 • 235 citations

Mitochondrial DNA mutations and neuromuscular disease

1989 • 216 citations

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.

1994 • 181 citations

Replacement of bovine mitochondrial DNA by a sequence variant within one generation.

1991 • 178 citations

Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

1990 • 152 citations

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

1992 • 134 citations

Heteroplasmy in Leber's Hereditary Optic Neuropathy

1993 • 118 citations

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

1986 • 116 citations

Variable Genotype of Leber's Hereditary Optic Neuropathy Patients

1990 • 115 citations

Are mitochondrial structural genes selectively amplified during senescence in podospora anserina?

1982 • 104 citations

Intergenomic recombination of mitochondrial genomes in a somatic hybrid plant

1985 • 90 citations

Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

1982 • 87 citations

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy

1990 • 80 citations

Several different mitochondrial DNA regions are involved in intergenomic recombination in Brassica napus cybrid plants

1986 • 62 citations

5-Bromodeoxyuridine labeling of monomeric and catenated circular mitochondrial DNA in hela cells

1973 • 60 citations

Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.

1983 • 46 citations

Correlation between clinical and molecular features in two MELAS families

1992 • 43 citations

Effects of normal human fibroblast mitochondrial DNA on segregation of HeLaTG Mitochondrial DNA and on tumorigenicity of HeLaTG cells.

1986 • 41 citations

Segregation of mitochondrial DNA in human somatic cell hybrids

1984 • 26 citations