High frequency of mitochondrial complex I mutations in Parkinson’s disease and aging

Oxidants, antioxidants, and the degenerative diseases of aging.

1993 • 6,011 citations

SIFT: predicting amino acid changes that affect protein function

2003 • 5,952 citations

Chronic systemic pesticide exposure reproduces features of Parkinson's disease

2000 • 3,559 citations

Mitochondrial Complex I Deficiency in Parkinson's Disease

1990 • 2,147 citations

Inhibition of NADH-linked oxidation in brain mitochondria by 1-methyl-4-phenyl-pyridine, a metabolite of the neurotoxin, 1-methyl-4-phenyl-1,2,5,6-tetrahydropyridine

1985 • 1,236 citations

Abnormalities of the electron transport chain in idiopathic parkinson's disease

1989 • 1,067 citations

Mitochondrial threshold effects

2003 • 750 citations

Deficiencies in Complex I subunits of the respiratory chain in Parkinson's disease

1989 • 735 citations

PCR fidelity of pfu DNA polymerase and other thermostable DNA polymerases

1996 • 701 citations

Pathology of Parkinson’s disease

1991 • 674 citations

Origin and functional consequences of the complex I defect in Parkinson's disease

1996 • 629 citations

Cytochrome oxidase deficiency in Alzheimer's disease

1990 • 581 citations

DNA Mismatch Correction in a Defined System

1989 • 551 citations

Heteroduplexes in mixed-template amplifications: formation, consequence and elimination by 'reconditioning PCR'

2002 • 450 citations

Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

1993 • 449 citations

Low platelet mitochondrial complex I and complex II/III activity in early untreated parkinson's disease

1995 • 430 citations

DNA MISMATCH CORRECTION

1987 • 427 citations

High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain

2002 • 364 citations

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

1992 • 354 citations

Platelet mitochondria function in Parkinson's disease

1992 • 350 citations

RETRACTED: Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

1997 • 345 citations

Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence

1990 • 345 citations

The Molecular and Genetic Basis of Neurological Disease

1993 • 345 citations

BRAIN, SKELETAL MUSCLE AND PLATELET HOMOGENATE MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE

1992 • 341 citations

Mitochondrial oxidative phosphorylation defects in parkinson's disease

1991 • 334 citations

Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age

2003 • 331 citations

Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

1998 • 313 citations

Marked Changes in Mitochondrial DNA Deletion Levels in Alzheimer Brains

1994 • 307 citations

Methyl-directed DNA Mismatch Correction

1989 • 297 citations

Abnormal Mitochondrial Morphology in Sporadic Parkinson's and Alzheimer's Disease Cybrid Cell Lines

2000 • 286 citations

Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle

1998 • 285 citations

Elevated reactive oxygen species and antioxidant enzyme activities in animal and cellular models of Parkinson's disease

1997 • 263 citations

Cytochemical Demonstration of Oxidative Damage in Alzheimer Disease by Immunochemical Enhancement of the Carbonyl Reaction with 2,4-Dinitrophenylhydrazine

1998 • 227 citations

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

2002 • 226 citations

Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease

1991 • 224 citations

Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes

1993 • 221 citations

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

1997 • 218 citations

Reduced platelet cytochrome c oxidase activity in Alzheimer's disease

1994 • 199 citations

Respiratory chain complex I deficiency

2001 • 192 citations

Mitochondrial complex I and II activities of lymphocytes and platelets in Parkinson's disease

1992 • 192 citations

Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis

1990 • 188 citations

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy

2000 • 173 citations

Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

1997 • 170 citations

Mitochondrial respiratory failure in skeletal muscle from patients with Parkinson's disease and multiple system atrophy

1994 • 170 citations

Altered Calcium Homeostasis in Cells Transformed by Mitochondria from Individuals with Parkinson's Disease

1997 • 151 citations

Point mutations of mitochondrial genome in Parkinson's disease

1995 • 147 citations

Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family

1998 • 146 citations

Apparent mtDNA heteroplasmy in Alzheimer’s disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes

1997 • 137 citations

Mitochondria1 respiratory chain activity in skeletal muscle from patients with Parkinson's disease

1993 • 127 citations

A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

1999 • 126 citations

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

1991 • 123 citations

Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?

2002 • 122 citations

Parkinson's disease transgenic mitochondrial cybrids generate Lewy inclusion bodies

2004 • 122 citations

Effect of PCR conditions on the formation of heteroduplex and single-stranded DNA products in the amplification of bacterial ribosomal DNA spacer regions.

1993 • 121 citations

A 4-base pair deletion in the mitochondrial cytochromeb gene associated with parkinsonism/MELAS overlap syndrome

1999 • 119 citations

Mitochondrial DNA Deletions/Rearrangements in Parkinson Disease and Related Neurodegenerative Disorders

2002 • 119 citations

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

1999 • 119 citations

Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson’s disease

2000 • 113 citations

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease

2003 • 111 citations

mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish

2003 • 111 citations

Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients

1996 • 99 citations

Maternal inheritance in Parkinson's disease

1997 • 95 citations

Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease

1998 • 88 citations

Fragmented Mitochondrial DNA Is the Predominant Carrier of Oxidized DNA Bases

1998 • 87 citations

Sequence Analysis of the Entire Mitochondrial Genome in Parkinson's Disease

2002 • 78 citations

Quantification of mitochondrial DNA in peripheral blood mononuclear cells and subcutaneous fat using real-time polymerase chain reaction

2001 • 76 citations

Modeling of heteroduplex formation during PCR from mixtures of DNA templates.

1992 • 67 citations

Cooperation and competition in mismatch repair: very short‐patch repair and methyl‐directed mismatch repair in Escherichia coli

2002 • 66 citations

Methyl-directed repair of frameshift mutations in heteroduplex DNA.

1986 • 65 citations

Protein Structure, Neighbor Effect, and a New Index of Amino Acid Dissimilarities

2002 • 62 citations

Genotype in the 24-kDa Subunit Gene (NDUFV2) of Mitochondrial Complex I and Susceptibility to Parkinson Disease

1998 • 61 citations

Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease

1999 • 50 citations

Novel mitochondrial DNA mutations in Parkinson's disease

2002 • 46 citations

No evidence for altered muscle mitochondrial function in Parkinson's disease.

1993 • 38 citations

Low Mutational Burden of Individual Acquired Mitochondrial DNA Mutations in Brain

2001 • 33 citations

The mitochondrial common deletion in Parkinson's disease and related movement disorders

2002 • 30 citations

Methyl-directed Repair of Mismatched Small Heterologous Sequences in Cell Extracts from Escherichia coli

1997 • 29 citations

Mitochondrial genotypes and cytochrome b variants associated with longevity or Parkinson's disease

2002 • 27 citations

Unaltered Respiratory Chain Enzyme Activity and Mitochondrial DNA in Skeletal Muscle from Patients with Idiopathic Parkinson’s Syndrome

1994 • 26 citations

Golden mean to longevity: Rareness of mitochondrial cytochrome b variants in centenarians but not in patients with Parkinson's disease

2002 • 24 citations

Parkinson disease: analysis of mitochondrial DNA in monozygotic twins.

2000 • 22 citations

Mitochondrial ND1 sequence analysis and association of the T4216C mutation with Parkinson's disease.

2000 • 20 citations

Parkinson disease: analysis of mitochondrial DNA in monozygotic twins

2000 • 17 citations

Mitochondrial DNA A4336G Mutation in Alzheimer’s and Parkinson’s Diseases

2002 • 15 citations