Human Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns*
暂无分享,去创建一个
B. J. Hanson | J. Smeitink | L. P. Van den Heuvel | R. Capaldi | R. Triepels | M. Marusich | L. Sundell | L. P. van den Heuvel | Linda Sundell
[1] R. Capaldi,et al. Structure, Functioning, and Assembly of the ATP Synthase in Cells from Patients with the T8993G Mitochondrial DNA Mutation , 2000, The Journal of Biological Chemistry.
[2] J. Smeitink,et al. Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients , 2000, Human Genetics.
[3] E. Shoubridge,et al. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. , 2000 .
[4] L. P. Van den Heuvel,et al. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects , 2000, Human mutation.
[5] P. Kaplan,et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene , 1999, Nature Genetics.
[6] A. Munnich,et al. Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency. , 1999, Biochimica et biophysica acta.
[7] N Grigorieff,et al. Structure of the respiratory NADH:ubiquinone oxidoreductase (complex I) , 1999, Current opinion in structural biology.
[8] J. Smeitink,et al. Human mitochondrial complex I in health and disease. , 1999, American journal of human genetics.
[9] P. Barth,et al. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I , 1999, Annals of neurology.
[10] E. Mariman,et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy , 1999, Nature Genetics.
[11] E. Bertini,et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. , 1998, American journal of human genetics.
[12] B. Hamel,et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. , 1998, American journal of human genetics.
[13] J. Skehel,et al. NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2‐kDa subunit , 1998, FEBS letters.
[14] J. Smeitink,et al. Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art. , 1998, Human molecular genetics.
[15] E. Mariman,et al. 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, American journal of human genetics.
[16] J. L. Smith,et al. Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mtDNA depletion syndrome. , 1997, Biochimica et biophysica acta.
[17] Thomas Bourgeron,et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency , 1995, Nature Genetics.
[18] C. Hengstenberg,et al. Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. , 1995, Biochemical and biophysical research communications.
[19] D. Wink,et al. Nitric Oxide Reactions Important to Biological Systems: A Survey of Some Kinetics Investigations , 1995 .
[20] R. Capaldi,et al. Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells. , 1995, Methods in enzymology.
[21] J. Walker,et al. The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains , 1992, Quarterly Reviews of Biophysics.
[22] S. Ackerman,et al. Identification of two nuclear genes (ATP11, ATP12) required for assembly of the yeast F1-ATPase. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[23] M. Marusich. Efficient hybridoma production using previously frozen splenocytes. , 1988, Journal of immunological methods.
[24] J. Veerkamp,et al. Estimation of NADH oxidation in human skeletal muscle mitochondria. , 1986, Clinica chimica acta; international journal of clinical chemistry.
[25] Y. Hatefi,et al. Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase. , 1979, Archives of biochemistry and biophysics.
[26] Y. Hatefi,et al. Resolution of complex I and isolation of NADH dehydrogenase and an iron--sulfur protein. , 1978, Methods in enzymology.
[27] Y. Hatefi. Preparation and properties of NADH: ubiquinone oxidoreductase (complexI), EC 1.6.5.3. , 1978, Methods in enzymology.