Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Biochemical Journal

• Publication date

  2004-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1042/BJ20040561PMID 15324306PMCID PMC1134112
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mitochondrial DNA mutations in human disease

  2006cited by this paper
• Cerebral lactic acidosis correlates with neurological impairment in MELAS

  2004cited by this paper
• Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease.

  2003cited by this paper
• Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.

  2002cited by this paper
• The molecular mechanism of ATP synthesis by F1F0-ATP synthase.

  2002cited by this paper
• Primary Disorders of Mitochondrial DNA and the Pathophysiology of mtDNA-Related Disorders

  2002cited by this paper
• An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit.

  2002cited by this paper
• Glucose and lactate metabolism during brain activation

  2001cited by this paper
• Pathogenesis of primary defects in mitochondrial ATP synthesis.

  2001cited by this paper
• Decreased Pasteur effect in platelets of aged individuals.

  2001cited by this paper
• Lactate shuttles in nature.

  2001cited by this paper
• Mitochondrial DNA mutations in human disease.

  2001cited by this paper
• Catalytic Activities of Mitochondrial ATP Synthase in Patients with Mitochondrial DNA T8993G Mutation in the ATPase 6 Gene Encoding Subunit a *

  2000cited by this paper
• [Diseases of mitochondrial DNA].

  2000cited by this paper
• Structure, Functioning, and Assembly of the ATP Synthase in Cells from Patients with the T8993G Mitochondrial DNA Mutation

  2000cited by this paper
• Role of mitochondrial lactate dehydrogenase and lactate oxidation in the intracellular lactate shuttle.

  1999cited by this paper
• Functional and morphological abnormalities of mitochondria harbouring the tRNALeu(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease

  1999cited by this paper
• Oligomycin Induces a Decrease in the Cellular Content of a Pathogenic Mutation in the Human Mitochondrial ATPase 6 Gene*

  1999cited by this paper
• Impact of Culture Conditions, Culture Media Volumes, and Glucose Content on Metabolic Properties of Renal Epithelial Cell Cultures

  1999cited by this paper
• Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations

  1998cited by this paper
• Myocardial aerobic metabolism is impaired in a cell culture model of cyanotic heart disease.

  1998cited by this paper
• Mitochondrial ATP synthesis in permeabilized cells: assessment of the ATP/O values in situ.

  1998cited by this paper
• Myocardial aerobic metabolism is impaired in a cell culture model of cyanotic heart disease.

  1998cited by this paper
• Cytochemistry and immunocytochemistry of mitochondria in tissue sections.

  1996cited by this paper
• Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.

  1996cited by this paper
• Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects.

  1996cited by this paper
• Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

  1995cited by this paper
• In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes

  1995cited by this paper
• Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

  1994cited by this paper
• A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

  1993cited by this paper
• Role of fructose 2,6-bisphosphate in the control of glycolysis. Stimulation of glycogen synthesis by lactate in the isolated working rat heart.

  1993cited by this paper
• A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

  1992cited by this paper
• Diseases of the mitochondrial DNA.

  1992cited by this paper
• 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.

  1992cited by this paper
• Structural and functional mitochondrial abnormalities associated with high levels of partially deleted mitochondrial DNAs in somatic cell hybrids

  1992cited by this paper
• Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.

  1991cited by this paper
• A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

  1991cited by this paper
• A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

  1990cited by this paper
• Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.

  1990cited by this paper
• Control of respiration and oxidative phosphorylation in isolated rat liver cells.

  1990cited by this paper
• Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

  1990cited by this paper
• A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

  1990cited by this paper
• The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia

  1990cited by this paper
• Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

  1989cited by this paper
• Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation.

  1989cited by this paper
• Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.

  1985cited by this paper
• Glucose transport and metabolism in cultured human skin fibroblasts.

  1983cited by this paper
• Use of the liquid scintillation spectrometer for determining adenosine triphosphate by the luciferase enzyme.

  1969cited by this paper

• Extremely low-frequency electromagnetic field (ELF-EMF) enhances mitochondrial energy production in NARP cybrids

  2025cites this paper
• Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies

  2024cites this paper
• Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase (Review).

  2024cites this paper
• Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease

  2024influential citation
• Development and characterization of different cell models harbouring mitochondrial DNA deletions for in vitro study of Pearson syndrome.

  2022cites this paper
• Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

  2022influential citation
• Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges

  2022cites this paper
• Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNAAla 5601C>T and tRNALeu(CUN) 12311T>C mutations

  2022cites this paper
• Leigh Syndrome: A Tale of Two Genomes

  2021cites this paper
• The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase.

  2021cites this paper
• Rewiring cell signalling pathways in pathogenic mtDNA mutations.

  2021cites this paper
• Tetracyclines promote survival and fitness in mitochondrial disease models

  2020cites this paper
• Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.

  2019cites this paper
• Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism

  2019cites this paper
• ATP Synthase Diseases of Mitochondrial Genetic Origin

  2018influential citation
• Cybrid Models of Pathological Cell Processes in Different Diseases

  2018cites this paper
• Mutation-specific effects in germline transmission of pathogenic mtDNA variants

  2018cites this paper
• Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

  2018cites this paper
• Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family.

  2018cites this paper
• Human NARP Mitochondrial Mutation Metabolism Corrected With -Ketoglutarate/Aspartate

  2017cites this paper
• A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR)

  2017cites this paper
• Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation

  2016influential citation
• A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function

  2016cites this paper
• Exogenous pyruvate facilitates cancer cell adaptation to hypoxia by serving as an oxygen surrogate

  2016influential citation
• A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction*

  2016cites this paper
• Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant

  2016cites this paper
• Review and meta‐analysis of natural selection in mitochondrial complex I in metazoans

  2015cites this paper
• Understanding structure, function, and mutations in the mitochondrial ATP synthase

  2015cites this paper
• Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Short (page heading) title: Biochemistry of 9205delTA mutation

  2015cites this paper
• Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.

  2015cites this paper
• Mitochondrial DNA (mtDNA) variants in the European haplogroups HV, JT, and U do not have a major role in schizophrenia

  2014cites this paper
• A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential

  2014cites this paper
• Role of AMPK-mediated adaptive responses in human cells with mitochondrial dysfunction to oxidative stress.

  2014cites this paper
• Aminoglycoside Stress Together with the 12S rRNA 1494C>T Mutation Leads to Mitophagy

  2014cites this paper
• Mitochondrial Allotopic Gene Therapy Approaches Using a Drosophila Model with an Endogenous ATP6 Mutation

  2014cites this paper
• Cytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathies

  2014cites this paper
• On Glucose Metabolism in Patients with the m.3243A>G Mutation

  2013cites this paper
• Mitochondrial Medicine: assay development and application with special emphasis on human complex V

  2013cites this paper
• Curbing cancer's sweet tooth: is there a role for MnSOD in regulation of the Warburg effect?

  2013cites this paper
• Mitochondrial Biogenesis Drives a Vicious Cycle of Metabolic Insufficiency and Mitochondrial DNA Deletion Mutation Accumulation in Aged Rat Skeletal Muscle Fibers

  2013cites this paper
• The Impact of Pathogenic Mitochondrial DNA Mutations on Substantia Nigra Neurons

  2013cites this paper
• The clinical maze of mitochondrial neurology

  2013cites this paper
• Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome

  2013influential citation
• Efecto de las mutaciones en el ADN mitocondrial sobre la expresión de genes implicados en la función mitocondrial

  2013cites this paper
• Effect of mtDNA point mutations on cellular bioenergetics.

  2012cites this paper
• Role of taurine in the pathologies of MELAS and MERRF

  2012cites this paper
• Mitochondrial DNA Mutations Provoke Dominant Inhibition of Mitochondrial Inner Membrane Fusion

  2012cites this paper
• AMPK-mediated increase of glycolysis as an adaptive response to oxidative stress in human cells: implication of the cell survival in mitochondrial diseases.

  2012cites this paper
• Variación genética del mtDNA: De la genética poblacional a la farmacogenómica

  2012cites this paper
• Hepatic encephalopathy: An approach to its multiple pathophysiological features.

  2012cites this paper
• Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition.

  2012cites this paper
• Mitochondrial single nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using cleavable biotinylated dideoxynucleotides.

  2012cites this paper
• Oxidative Stress and its Biochemical Consequences in Mitochondrial DNA Mutation‐Associated Diseases: Implications of Redox Therapy for Mitochondrial Diseases

  2011cites this paper
• The Cross-Talk Between Mitochondria and the Nucleus in the Response to Oxidative Stress Associated with Mitochondrial Dysfunction in Mitochondrial Encephalomyopathies

  2011influential citation
• Hypersensitivity of mtDNA-depleted cells to staurosporine-induced apoptosis: roles of Bcl-2 downregulation and cathepsin B.

  2011cites this paper
• NQO1-Dependent Redox Cycling of Idebenone: Effects on Cellular Redox Potential and Energy Levels

  2011influential citation
• Mitochondrial ATP synthase: architecture, function and pathology

  2011cites this paper
• Glucose in platelet additive solutions: to add or not to add?

  2011cites this paper
• Modes of Metabolic Compensation during Mitochondrial Disease Using the Drosophila Model of ATP6 Dysfunction

  2011cites this paper
• Novel molecular engineering approaches for genotyping and DNA sequencing

  2011cites this paper
• Cytopathological Mechanisms in Mitochondrial Disease

  2010cites this paper
• Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

  2010cites this paper
• Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.

  2010cites this paper
• Astaxanthin protects neuronal cells against oxidative damage and is a potent candidate for brain food.

  2009cites this paper
• Evidence for nuclear modifier gene in mitochondrial cardiomyopathy.

  2009cites this paper
• Pathogenesis and treatment of mitochondrial disorders.

  2009cites this paper
• Astaxanthin inhibits reactive oxygen species-mediated cellular toxicity in dopaminergic SH-SY5Y cells via mitochondria-targeted protective mechanism.

  2009cites this paper
• Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.

  2009cites this paper
• Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation.

  2009cites this paper
• Development and characterization of polyspecific anti‐mitochondrion antibodies for proteomics studies on in toto tissue homogenates

  2009cites this paper
• The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier.

  2009cites this paper
• Mitochondrial dysfunction in hereditary optic neuropathies

  2009cites this paper
• The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes.

  2008cites this paper
• Cells silenced for SDHB expression display characteristic features of the tumor phenotype.

  2008cites this paper
• Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

  2008cites this paper
• Investigation of tRNALeu/Lys and ATPase 6 Genes Mutations in Huntington’s Disease

  2008cites this paper
• Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation

  2008influential citation
• Mutacje mitochondrialnego DNA w rozwoju nowotworów głowy i szyi Mitochondrial DNA mutations in the pathogenesis in the head and neck squamous cell carcinoma

  2008cites this paper
• The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics.

  2008cites this paper
• [Mitochondrial DNA mutations in the pathogenesis in the head and neck squamous cell carcinoma].

  2008cites this paper
• Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies

  2007influential citation
• Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

  2007cites this paper
• Allotopic mRNA Localization to the Mitochondrial Surface Rescues Respiratory Chain Defects in Fibroblasts Harboring Mitochondrial DNA Mutations Affecting Complex I or V Subunits

  2007cites this paper
• Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.

  2006cites this paper
• Measurement of ATP production in mitochondrial disorders

  2006cites this paper
• Mitochondrial diseases and genetic defects of ATP synthase.

  2006cites this paper
• Two components in pathogenic mechanism of mitochondrial ATPase deficiency: energy deprivation and ROS production.

  2006cites this paper
• Mitochondrial transfer between cells can rescue aerobic respiration

  2006cites this paper
• Mitochondrial Encephalomyopathy in Drosophila

  2006cites this paper
• Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants

  2006cites this paper
• New Insights Into Structure and Function of Mitochondria and Their Role in Aging and Disease

  2006cites this paper
• Mitochondrial DNA and disease

  2005cites this paper
• mtDNA mutations increase tumorigenicity in prostate cancer.

  2005cites this paper