Mitochondrial Diseases in Man and Mouse

Mitochondria and Apoptosis

1998 • 8,909 citations

Oxidants, antioxidants, and the degenerative diseases of aging.

1993 • 6,011 citations

Induction of Apoptotic Program in Cell-Free Extracts: Requirement for dATP and Cytochrome c

1996 • 5,133 citations

Molecular characterization of mitochondrial apoptosis-inducing factor

1999 • 4,031 citations

The mitochondrial permeability transition

1995 • 2,412 citations

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1990 • 2,006 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

1995 • 1,761 citations

The genome sequence of Rickettsia prowazekii and the origin of mitochondria

1998 • 1,675 citations

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

1998 • 1,517 citations

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1990 • 1,390 citations

Bax and Adenine Nucleotide Translocator Cooperate in the Mitochondrial Control of Apoptosis

1998 • 1,183 citations

Oxidative damage to mitochondrial DNA is increased in Alzheimer's disease

1994 • 1,020 citations

Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice.

1996 • 1,020 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

A CASE OF SEVERE HYPERMETABOLISM OF NONTHYROID ORIGIN WITH A DEFECT IN THE MAINTENANCE OF MITOCHONDRIAL RESPIRATORY CONTROL: A CORRELATED CLINICAL, BIOCHEMICAL, AND MORPHOLOGICAL STUDY

1962 • 943 citations

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

1999 • 888 citations

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

1992 • 878 citations

Somatic mutations of the mitochondrial genome in human colorectal tumours

1998 • 828 citations

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

1998 • 804 citations

Oxidative damage to mitochondrial DNA shows marked age‐dependent increases in human brain

1993 • 759 citations

[42]Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

1996 • 746 citations

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

1989 • 722 citations

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1995 • 711 citations

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1998 • 616 citations

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1992 • 612 citations

Mitochondrial disease in superoxide dismutase 2 mutant mice

1999 • 581 citations

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

1996 • 580 citations

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

1997 • 554 citations

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

1998 • 512 citations

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1988 • 509 citations

Emery and Rimoin's Principles and Practice of Medical Genetics

1997 • 508 citations

Mitochondria and programmed cell death: back to the future

1996 • 508 citations

A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase

1998 • 497 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

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

1992 • 476 citations

Increased Oxidative Damage Is Correlated to Altered Mitochondrial Function in Heterozygous Manganese Superoxide Dismutase Knockout Mice

1998 • 454 citations

Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

1993 • 449 citations

Mitochondrial ADP/ATP Carrier Can Be Reversibly Converted into a Large Channel by Ca²⁺

1996 • 421 citations

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

1997 • 388 citations

Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.

1996 • 381 citations

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

1992 • 354 citations

The Molecular and Genetic Basis of Neurological Disease

1993 • 345 citations

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

1994 • 308 citations

Marked Changes in Mitochondrial DNA Deletion Levels in Alzheimer Brains

1994 • 307 citations

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

1991 • 297 citations

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

1998 • 278 citations

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

1995 • 276 citations

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

1998 • 262 citations

The Protein Import System of Mitochondria

1996 • 261 citations

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

1990 • 248 citations

An autosomal locus predisposing to deletions of mitochondrial DNA

1995 • 240 citations

Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations

1997 • 218 citations

Mitochondrial diabetes mellitus: a review

1995 • 218 citations

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

1989 • 212 citations

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.

1994 • 191 citations

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease.

1995 • 188 citations

Cytoplasmic Inheritance of Chloramphenicol Resistance in Mouse Tissue Culture Cells

1974 • 184 citations

Techniques in Somatic Cell Genetics

1982 • 174 citations

Structure and evolution of organelle genomes

1982 • 168 citations

Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells.

1975 • 165 citations

Novel mitochondrial DNA deletion found in a renal cell carcinoma

1996 • 161 citations

Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: Evidence for mismatch repair systems in mitochondrial genome

1998 • 156 citations

Subacute necrotizing encephalopathy

1992 • 154 citations

Leber's disease and dystonia

1986 • 153 citations

Use of Transmitochondrial Cybrids To Assign a Complex I Defect to the Mitochondrial DNA-Encoded NADH Dehydrogenase Subunit 6 Gene Mutation at Nucleotide Pair 14459 That Causes Leber Hereditary Optic Neuropathy and Dystonia

1996 • 148 citations

Mitochondrial Genotype Segregation During Preimplantation Development in Mouse Heteroplasmic Embryos

1998 • 132 citations

Detection of hydroxyl radical in the mitochondria of ischemic-reperfused myocardium by trapping with salicylate

1989 • 123 citations

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

1993 • 117 citations

Multi-Organ Characterization of Mitochondrial Genomic Rearrangements in Ad Libitum and Caloric Restricted Mice Show Striking Somatic Mitochondrial DNA Rearrangements with Age

1997 • 113 citations

Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing — a cytochemical-immunohistochemical study

1992 • 111 citations

In Vitro Analysis of Mutations Causing Myoclonus Epilepsy with Ragged-Red Fibers in the Mitochondrial tRNA^Lys Gene: Two Genotypes Produce Similar Phenotypes

1995 • 111 citations

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

1995 • 111 citations

Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

1995 • 109 citations

Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production

1993 • 109 citations

Clinical features of melas and mitochondrial DNA mutations

1995 • 97 citations

Mitochondria transfer into mouse ova by microinjection.

1997 • 96 citations

Molecular genetic characterization of an X‐linked form of Leigh's syndrome

1993 • 82 citations

Variable Retinal and Neurologic Manifestations in Patients Harboring the Mitochondrial DNA 8993 Mutation

1993 • 77 citations

Teratocarcinoma cells as vehicles for introducing specific mutant mitochondrial genes into mice

1978 • 46 citations

Superoxide dismutases of muscle in mitochondrial encephalomyopathies

1995 • 39 citations

Steady state levels of mitochondrial and nuclear oxidative phosphorylation transcripts in Kearns-Sayre syndrome

1994 • 33 citations

Searching for genes affecting the structural integrity of the mitochondrial genome

1995 • 29 citations

Cytoplasmic Inheritance of Chloramphenicol Resistance in Mammalian Cells

1982 • 21 citations