Coordinate Induction of Energy Gene Expression in Tissues of Mitochondrial Disease Patients

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

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

1990 • 1,456 citations

DISEASES OF THE MITOCHONDRIAL DNA

1992 • 1,294 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

The yeast polyubiquitin gene is essential for resistance to high temperatures, starvation, and other stresses

1987 • 850 citations

Activation of the human mitochondrial transcriptionfactor A gene by nuclear respiratory factors: a potential regulatory linkbetween nuclear and mitochondrial gene expression in organellebiogenesis.

1994 • 765 citations

Sequence identification of 2,375 human brain genes

1992 • 764 citations

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

1992 • 612 citations

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

1988 • 509 citations

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

1992 • 476 citations

Mitochondrial DNA mutations and pathogenesis.

1997 • 427 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

RTG1 and RTG2: Two yeast genes required for a novel path of communication from mitochondria to the nucleus

1993 • 414 citations

Ubiquitin-Mediated Pathways for Intracellular Proteolysis

1987 • 409 citations

The human ubiquitin multigene family: some genes contain multiple directly repeated ubiquitin coding sequences.

1985 • 355 citations

Hypoxemia Is Associated With Mitochondrial DNA Damage and Gene Induction

1991 • 325 citations

Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation.

1992 • 316 citations

Energy metabolism of tumor cells. Requirement for a form of hexokinase with a propensity for mitochondrial binding.

1981 • 307 citations

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging.

1995 • 270 citations

Interaction of Nuclear Factors with Multiple Sites in the Somatic Cytochrome c Promoter

1989 • 259 citations

Sequence analysis of cDNAs for the human and bovine ATP synthase ? subunit: mitochondrial DNA genes sustain seventeen times more mutations

1987 • 237 citations

Glycolysis, respiration, and anomalous gene expression in experimental hepatomas: G.H.A. Clowes memorial lecture.

1972 • 227 citations

cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes.

1987 • 203 citations

Human complex I defects in neurodegenerative diseases

1998 • 165 citations

Subacute necrotizing encephalopathy

1992 • 154 citations

The cationically selective state of the mitochondrial outer membrane pore: a study with intact mitochondria and reconstituted mitochondrial porin

1990 • 147 citations

The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.

1987 • 141 citations

Expression of human ANT2 gene in highly proliferative cells: GRBOX, a new transcriptional element, is involved in the regulation of glycolytic ATP import into mitochondria

1998 • 119 citations

Glucose phosphorylation in tumor cells. Cloning, sequencing, and overexpression in active form of a full-length cDNA encoding a mitochondrial bindable form of hexokinase.

1990 • 118 citations

Rtg3p, a Basic Helix-Loop-Helix/Leucine Zipper Protein that Functions in Mitochondrial-induced Changes in Gene Expression, Contains Independent Activation Domains

1997 • 115 citations

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

1993 • 109 citations

Transcriptional control of nuclear genes for the mitochondrial muscle ADP/ATP translocator and the ATP synthase beta subunit. Multiple factors interact with the OXBOX/REBOX promoter sequences.

1992 • 105 citations

Human hexokinase: Sequences of amino- and carboxyl-terminal halves are homologous

1988 • 100 citations

Differential regulation of respiratory chain subunits by a CREB-dependent signal transduction pathway. Role of cyclic AMP in cytochrome c and COXIV gene expression.

1994 • 99 citations

Existence of common homologous elements in the transcriptional regulatory regions of human nuclear genes and mitochondrial gene for the oxidative phosphorylation system

1991 • 97 citations

Pathophysiology of the MELAS 3243 Transition Mutation

1997 • 93 citations

Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies.

1994 • 90 citations

HUMAN GENE MAPPING: A COMPENDIUM

1994 • 87 citations

Adult rat cardiomyocytes cultured in creatine-deficient medium display large mitochondria with paracrystalline inclusions, enriched for creatine kinase.

1991 • 81 citations

Recent developments in the molecular genetics of mitochondrial disorders

1998 • 79 citations

OXBOX, a positive transcriptional element of the heart-skeletal muscle ADP/ATP translocator gene

1990 • 76 citations

Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic?

1997 • 71 citations

The human ATP synthase β subunit gene: Sequence analysis, chromosome assignment, and differential expression

1989 • 68 citations

Mitochondrial DNA diseases: Histological and cellular studies

1994 • 65 citations

Novel regulatory enhancer in the nuclear gene of the human mitochondrial ATP synthase beta-subunit.

1990 • 62 citations

The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics

1998 • 62 citations

cDNA cloning and mapping of the human creatine kinase M gene to 19q13.

1987 • 61 citations

Regulatory element analysis and structural characterization of the human sarcomeric mitochondrial creatine kinase gene.

1991 • 53 citations

Introduction aux Analyses Statistiques Multidimensionnelles

1982 • 51 citations

Ultrastructural localisation of creatine kinase activity in the contact sites between inner and outer mitochondrial membranes of rat myocardium

1989 • 42 citations

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

1994 • 33 citations

Kearns-Sayre Syndrome with Sideroblastic Anemia: Molecular Investigations

1992 • 32 citations

The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus

1993 • 26 citations

Genetic Mapping of Human Heart-Skeletal Muscle Adenine Nucleotide Translocator and Its Relationship to the Facioscapulohumeral Muscular Dystrophy Locus

1993 • 21 citations

Effect of Maternal Diabetes on the Expression of Genes Regulating Fetal Brain Glucose Uptake

1993 • 18 citations

Cloning and Characterization of the Human Muscle Phosphofructokinase Gene

1992 • 16 citations

Isolation and mapping of a polymorphic DNA sequence for human muscle glycogen phosphorylase (pMCMP1) on chromosome 11 [PYGM]

1988 • 16 citations