Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
暂无分享,去创建一个
[1] M. Gerschenson,et al. Mitochondrial oxidative phosphorylation protein levels in peripheral blood mononuclear cells correlate with levels in subcutaneous adipose tissue within samples differing by HIV and lipoatrophy status. , 2008, AIDS research and human retroviruses.
[2] J. Willis,et al. Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers. , 2008, Molecular genetics and metabolism.
[3] B. Gibson,et al. Small‐scale immunopurification of cytochrome c oxidase for a high‐throughput multiplexing analysis of enzyme activity and amount , 2007, Biotechnology and applied biochemistry.
[4] J. Smeitink,et al. Mitochondrial complex I: Structure, function and pathology , 2006, Journal of Inherited Metabolic Disease.
[5] K. Kyvik,et al. Tissue specific distribution of the 3243A→G mtDNA mutation , 2006, Journal of Medical Genetics.
[6] Massimo Zeviani,et al. Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. , 2006, Cell metabolism.
[7] B. Gibson,et al. Mass spectrometric identification of a novel phosphorylation site in subunit NDUFA10 of bovine mitochondrial complex I , 2005, FEBS letters.
[8] Robert W. Taylor,et al. The epidemiology of mitochondrial disorders--past, present and future. , 2004, Biochimica et biophysica acta.
[9] J. Belmont,et al. Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease , 2004, Pediatrics.
[10] L. Wong,et al. Molecular analysis for mitochondrial DNA disorders. , 2004, Mitochondrion.
[11] D. Thorburn,et al. Respiratory chain enzyme analysis in muscle and liver. , 2004, Mitochondrion.
[12] Ò. Miró,et al. Enzymatic diagnosis of oxidative phosphorylation defects on muscle biopsy: better on tissue homogenate or on a mitochondria-enriched suspension? , 2004, Medical science monitor : international medical journal of experimental and clinical research.
[13] W. Sperl,et al. The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. , 2004, Mitochondrion.
[14] Robert W. Taylor,et al. Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells , 2004, European Journal of Human Genetics.
[15] Robert W. Taylor,et al. The diagnosis of mitochondrial muscle disease , 2004, Neuromuscular Disorders.
[16] D. Thorburn. Mitochondrial diseases: not so rare after all , 2004, Internal medicine journal.
[17] Laura C. Greaves,et al. Mitochondrial DNA mutations in human colonic crypt stem cells. , 2003, The Journal of clinical investigation.
[18] L. V. D. Heuvel,et al. Some practical aspects of providing a diagnostic service for respiratory chain defects , 2003, Annals of clinical biochemistry.
[19] N. Henderson,et al. Blue Native electrophoresis to study mitochondrial and other protein complexes. , 2002, Methods.
[20] S. Dimauro,et al. The genetics and pathology of oxidative phosphorylation , 2001, Nature Reviews Genetics.
[21] L. P. Van den Heuvel,et al. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects , 2000, Human mutation.
[22] L. Grivell,et al. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. , 1999, Biochemical and biophysical research communications.
[23] 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.
[24] L. Vergani,et al. Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels , 1997, Electrophoresis.
[25] M. Marusich. Efficient hybridoma production using previously frozen splenocytes. , 1988, Journal of immunological methods.
[26] J. Veerkamp,et al. Estimation of NADH oxidation in human skeletal muscle mitochondria. , 1986, Clinica chimica acta; international journal of clinical chemistry.