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

Computational Method to Predict Mitochondrially Imported Proteins and their Targeting Sequences

1996 • 1,654 citations

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

1997 • 1,613 citations

NONDROPLET ULTRASTRUCTURAL DEMONSTRATION OF CYTOCHROME OXIDASE ACTIVITY WITH A POLYMERIZING OSMIOPHILIC REAGENT, DIAMINOBENZIDINE (DAB)

1968 • 892 citations

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

1998 • 804 citations

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

1951 • 761 citations

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

1996 • 736 citations

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

1995 • 711 citations

INTERRELATIONSHIPS OF THE PATHWAYS OF mRNA DECAY AND TRANSLATION IN EUKARYOTIC CELLS

1996 • 653 citations

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

1991 • 588 citations

PET genes of Saccharomyces cerevisiae

1990 • 517 citations

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

1992 • 476 citations

Cytochrome c oxidase deficiency in leigh syndrome

1987 • 368 citations

The YTA10–12 Complex, an AAA Protease with Chaperone-like Activity in the Inner Membrane of Mitochondria

1996 • 312 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 mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1993 • 259 citations

MYOCLONUS EPILEPSY AND RAGGED-RED FIBRES (MERRF)

1989 • 201 citations

Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines.

1990 • 186 citations

Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups.

1986 • 173 citations

[9] Mammalian cytochrome-c oxidase: Characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells

1995 • 138 citations

MYOCLONUS EPILEPSY AND RAGGED-RED FIBRES (MERRF)

1989 • 130 citations

SHY1, the Yeast Homolog of the MammalianSURF-1 Gene, Encodes a Mitochondrial Protein Required for Respiration

1997 • 128 citations

Deficiency of respiratory chain complex I is a common cause of leigh disease

1996 • 117 citations

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease

1987 • 112 citations

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

1991 • 106 citations

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

1993 • 106 citations

Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae.

1994 • 98 citations

Leigh syndrome, a mitochondrial encephalo(myo)pathy

1987 • 91 citations

Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies

1995 • 88 citations

Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.

1994 • 88 citations

A general high-efficiency procedure for production of microcell hybrids.

1981 • 83 citations

Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome

1997 • 82 citations

Interactions among Three Proteins That Specifically Activate Translation of the Mitochondrial COX3 mRNA in Saccharomyces cerevisiae

1994 • 76 citations

PET111 acts in the 5'-leader of the Saccharomyces cerevisiae mitochondrial COX2 mRNA to promote its translation.

1993 • 75 citations

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

1991 • 73 citations

Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

1992 • 72 citations

Neuropathology and pathogenesis of mitochondrial diseases

1996 • 71 citations

Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNA^Trp gene

1997 • 71 citations

A mitochondrial DNA tRNA ^Val point mutation associated with adult-onset Leigh syndrome

1997 • 67 citations

Physical mapping of human chromosome 17 using fragment-containing microcell hybrids

1989 • 66 citations

The bidirectional promoter of the divergently transcribed mouse Surf-1 and Surf-2 genes.

1991 • 66 citations

A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome

1997 • 62 citations

An immortalized human fibroblast cell line is permissive for human cytomegalovirus infection

1993 • 61 citations

The Mouse Surfeit Locus Contains a Cluster of Six Genes Associated with Four CpG-Rich Islands in 32 Kilobases of Genomic DNA

1990 • 57 citations

Characterization of cytochrome‐c oxidase mutants in human fibroblasts

1988 • 56 citations

Interactions among three proteins that specifically activate translation of the mitochondrial COX3 mRNA in Saccharomyces cerevisiae.

1994 • 55 citations

Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution.

1992 • 54 citations

Gene Transfer into Mammalian Cells by Particle Bombardment

1994 • 52 citations

Culture of immortalized cells

1996 • 51 citations

Ribosomal protein L7a is encoded by a gene (Surf-3) within the tightly clustered mouse surfeit locus.

1989 • 45 citations

ACCELERATED PAPER: Identification of human tumour suppressor genes by monochromosome transfer: rapid growth-arrest response mapped to 9p21 is mediated solely by the cyclin-D-dependent kinase inhibitor gene, CDKN2A(p16^INK4A)

1996 • 44 citations

The mouse surfeit locus contains a cluster of six genes associated with four CpG-rich islands in 32 kilobases of genomic DNA.

1990 • 41 citations

The Surf-1 and Surf-2 Genes and Their Essential Bidirectional Promoter Elements Are Conserved Between Mouse and Human

1994 • 37 citations

Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome)

1979 • 32 citations

Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome

1996 • 27 citations

Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)

1988 • 24 citations

Ribosomal protein L27 is identical in chick and rat

1991 • 24 citations

Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting

1992 • 22 citations

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc

1998 • 8 citations