Human Diseases with Defects in Oxidative Phosphorylation

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.

1979 • 54,907 citations

Neuropathological stageing of Alzheimer-related changes

1991 • 14,533 citations

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

1987 • 11,491 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

1991 • 2,240 citations

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

1990 • 2,006 citations

[1] Citrate synthase

1969 • 1,958 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

THE MITOCHONDRIAL ELECTRON TRANSPORT AND OXIDATIVE PHOSPHORYLATION SYSTEM

1985 • 1,599 citations

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

1990 • 1,456 citations

A MICROSPECTROPHOTOMETRIC METHOD FOR THE DETERMINATION OF CYTOCHROME OXIDASE

1951 • 1,369 citations

DISEASES OF THE MITOCHONDRIAL DNA

1992 • 1,294 citations

Mitochondrial Genetics: A Paradigm for Aging and Degenerative Diseases?

1992 • 1,268 citations

Analysis of Molecular Masses and Oligomeric States of Protein Complexes by Blue Native Electrophoresis and Isolation of Membrane Protein Complexes by Two-Dimensional Native Electrophoresis

1994 • 1,211 citations

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

1989 • 1,009 citations

The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

1992 • 772 citations

Cytochrome oxidase deficiency in Alzheimer's disease

1990 • 581 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

Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

1993 • 449 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

Silver staining of Alzheimer's neurofibrillary changes by means of physical development.

1971 • 402 citations

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

1992 • 390 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 of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1994 • 298 citations

Mitochondrial Encephalomyopathies

1993 • 297 citations

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1993 • 259 citations

[22] Isolation of the eleven protein subunits of the bc1 complex from beef heart

1986 • 254 citations

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

1992 • 240 citations

Alterations in calcium content and biochemical processes in cultured skin fibroblasts from aged and Alzheimer donors.

1986 • 218 citations

Identification of the subunits of F1F0-ATPase from bovine heart mitochondria

1991 • 200 citations

Predominant abnormality in cerebral glucose utilization in late-onset dementia of the Alzheimer type: A cross-sectional comparison against advanced late-onset and incipient early-onset cases

1991 • 193 citations

On the function of multiple subunits of cytochrome c oxidase from higher eukaryotes

1981 • 187 citations

Mitochondrial function in brain tissue in primary degenerative dementia

1987 • 177 citations

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q

1986 • 163 citations

The role of oxidative abnormalities in the pathophysiology of Alzheimer's disease.

1991 • 159 citations

Subacute necrotizing encephalopathy

1992 • 154 citations

[1] Production of antibodies by inoculation into lymph nodes

1983 • 148 citations

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1990 • 143 citations

Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in alzheimer's brains

1992 • 138 citations

Induction of Alzheimer Antigens by an Uncoupler of Oxidative Phosphorylation

1990 • 136 citations

Altered metabolic properties of cultured skin fibroblasts in Alzheimer's disease

1987 • 121 citations

Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1994 • 120 citations

Alzheimer's disease: Mismatch between amyloid plaques and neuritic plaques

1989 • 93 citations

Treatment of complex I deficiency with riboflavin

1993 • 91 citations

Chapter 7 Progress in succinate:quinone oxidoreductase research

1992 • 78 citations

Pyruvate oxidation in rat and human skeletal muscle mitochondria

1978 • 78 citations

Lacticacidemia

1993 • 69 citations

Is a point mutation in the mitochondrial ND2 gene associated with alzheimer's disease?

1992 • 55 citations

A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue

1993 • 49 citations

Metabolic alterations common to neural and non‐neural cells in alzheimer's disease

1993 • 46 citations

No Association of Mutations at Nucleotide 5460 of Mitochondrial NADH Dehydrogenase with Alzheimer′s Disease

1994 • 43 citations

Identification of the polypeptide encoded by the URF-1 gene of Neurospora crassa mtDNA

1985 • 41 citations

A competition between silver-stain and immunocytochemistry

1989 • 21 citations

Subunit IV of human cytochrome c oxidase, polymorphism and a putative isoform

1992 • 12 citations

Mitochondrial cytopathies

1993 • 9 citations

Enzymological versus DNA investigations in mitochondrial (encephalo‐)myopathies

1993 • 7 citations