Monogenic mitochondrial disorders.
暂无分享,去创建一个
[1] C. Hoppel,et al. Dynamic organization of mitochondria in human heart and in myocardial disease. , 2009, The international journal of biochemistry & cell biology.
[2] P. Bénit,et al. Mitochondrial response to controlled nutrition in health and disease. , 2011, Nutrition reviews.
[3] Nektarios Tavernarakis,et al. Cellular stress response pathways and ageing: intricate molecular relationships , 2011, The EMBO journal.
[4] R. Swerdlow. Mitochondrial Medicine and the Neurodegenerative Mitochondriopathies , 2009, Pharmaceuticals.
[5] V. Anisimov,et al. Mitochondrial-targeted plastoquinone derivatives. Effect on senescence and acute age-related pathologies. , 2011, Current drug targets.
[6] M. Murphy,et al. Prevention of diabetic nephropathy in Ins2+/−AkitaJ mice by the mitochondria-targeted therapy MitoQ , 2010, The Biochemical journal.
[7] A. Suomalainen,et al. Mouse models of mitochondrial DNA defects and their relevance for human disease , 2009, EMBO reports.
[8] P. Chinnery,et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy , 2011, Brain : a journal of neurology.
[9] L. Buydens,et al. Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. , 2011, Current pharmaceutical design.
[10] C. Reggiani,et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency , 2003, Nature Genetics.
[11] P. Bénit,et al. Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development. , 2010, Trends in molecular medicine.
[12] C. Stichel,et al. Genetic mouse models for Parkinson's disease display severe pathology in glial cell mitochondria. , 2011, Human molecular genetics.
[13] S. Byerley,et al. Mitochondrial DNA disease: new options for prevention. , 2011, Human molecular genetics.
[14] M. Rapoport,et al. Successful TAT-mediated enzyme replacement therapy in a mouse model of mitochondrial E3 deficiency , 2011, Journal of Molecular Medicine.
[15] A. Erol. Deciphering the intricate regulatory mechanisms for the cellular choice between cell repair, apoptosis or senescence in response to damaging signals. , 2011, Cellular signalling.
[16] Y. Tseng,et al. Cellular bioenergetics as a target for obesity therapy , 2010, Nature Reviews Drug Discovery.
[17] S. Dimauro,et al. A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. , 2009, Biochimica et biophysica acta.
[18] Pierre Croisille,et al. Effect of cyclosporine on reperfusion injury in acute myocardial infarction. , 2008, The New England journal of medicine.
[19] Robert W Taylor,et al. Mitochondrial tRNA mutations and disease , 2010, Wiley interdisciplinary reviews. RNA.
[20] Sion L. Williams,et al. Emerging therapeutic approaches to mitochondrial diseases. , 2010, Developmental disabilities research reviews.
[21] Robin A. J. Smith,et al. Mitochondria-targeted small molecule therapeutics and probes. , 2011, Antioxidants & redox signaling.
[22] A. Ferlini,et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins , 2007, Proceedings of the National Academy of Sciences.
[23] S. Ledoux,et al. The approaches for manipulating mitochondrial proteome , 2010, Environmental and molecular mutagenesis.
[24] Jean-Pierre Mazat,et al. Mitochondrial threshold effects. , 2003, The Biochemical journal.
[25] J. Smeitink,et al. Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency , 2011, Journal of Inherited Metabolic Disease.
[26] G. Patki,et al. Melatonin protects against neurobehavioral and mitochondrial deficits in a chronic mouse model of Parkinson's disease , 2011, Pharmacology Biochemistry and Behavior.
[27] D. DeAngelo,et al. Targeting protein neddylation: a novel therapeutic strategy for the treatment of cancer , 2011, Expert opinion on therapeutic targets.
[28] Kristin Santa. Treatment Options for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke‐Like Episodes (MELAS) Syndrome , 2010, Pharmacotherapy.
[29] Benedikt Westermann,et al. Mitochondrial fusion and fission in cell life and death , 2010, Nature Reviews Molecular Cell Biology.
[30] R. Rossignol,et al. Ultrastructure of the mitochondrion and its bearing on function and bioenergetics. , 2008, Antioxidants & redox signaling.
[31] Roland Brock,et al. Solute diffusion is hindered in the mitochondrial matrix , 2011, Proceedings of the National Academy of Sciences.
[32] Peter K. Sorger,et al. Measuring and Modeling Apoptosis in Single Cells , 2011, Cell.
[33] E. Olson,et al. Glycogen synthase kinase-3β mediates convergence of protection signaling to inhibit the mitochondrial permeability transition pore , 2004 .
[34] A. Paetau,et al. Recessive twinkle mutations cause severe epileptic encephalopathy. , 2009, Brain : a journal of neurology.
[35] R. Youle,et al. Mechanisms of mitophagy , 2010, Nature Reviews Molecular Cell Biology.
[36] J. Smeitink,et al. Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology? , 2007, American journal of physiology. Cell physiology.
[37] C. Gieger,et al. Human metabolic individuality in biomedical and pharmaceutical research , 2011, Nature.
[38] J. Smeitink,et al. Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency. , 2005, American journal of physiology. Cell physiology.
[39] Takeharu Nagai,et al. Visualization of ATP levels inside single living cells with fluorescence resonance energy transfer-based genetically encoded indicators , 2009, Proceedings of the National Academy of Sciences.
[40] A. Ferlini,et al. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies , 2008, Proceedings of the National Academy of Sciences.
[41] Linda Partridge,et al. Unraveling the biological roles of reactive oxygen species. , 2011, Cell metabolism.
[42] V. Bohr,et al. Mitochondrial DNA repair and association with aging – An update , 2010, Experimental Gerontology.
[43] R. Rodenburg,et al. Mitochondrial disease criteria , 2006, Neurology.
[44] Matthew S Goldberg,et al. Alternative Mitochondrial Electron Transfer as a Novel Strategy for Neuroprotection* , 2011, The Journal of Biological Chemistry.
[45] P. Peixoto,et al. Mitochondrial ion channels as therapeutic targets , 2010, FEBS letters.
[46] D. Wallace,et al. Mitochondrial energetics and therapeutics. , 2010, Annual review of pathology.
[47] B. Cohen. Pharmacologic effects on mitochondrial function. , 2010, Developmental disabilities research reviews.
[48] Fanny Mochel,et al. Energy deficit in Huntington disease: why it matters. , 2011, The Journal of clinical investigation.
[49] S. O’Rahilly,et al. Mitochondrial dysfunction in patients with primary congenital insulin resistance. , 2011, The Journal of clinical investigation.
[50] M. Brand,et al. Assessing mitochondrial dysfunction in cells , 2011, The Biochemical journal.
[51] J. Smeitink,et al. Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction , 2010, Journal of Inherited Metabolic Disease.
[52] R. Scarpulla. Transcriptional paradigms in mammalian mitochondrial biogenesis and function. , 2008, Physiological reviews.
[53] R. Swerdlow. Does mitochondrial DNA play a role in Parkinson's disease? A review of cybrid and other supportive evidence. , 2012, Antioxidants & redox signaling.
[54] Raimond L Winslow,et al. A mitochondrial oscillator dependent on reactive oxygen species. , 2004, Biophysical journal.
[55] S. Carr,et al. A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology , 2008, Cell.
[56] Xinyi Liu,et al. Mitochondrion: an emerging platform critical for host antiviral signaling , 2011, Expert opinion on therapeutic targets.
[57] J. Finsterer,et al. Drugs interfering with mitochondrial disorders , 2010, Drug and chemical toxicology.
[58] R Luft,et al. The development of mitochondrial medicine. , 1995, Biochimica et biophysica acta.
[59] J. Smeitink,et al. Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. , 2012, Mitochondrion.
[60] A. Camara,et al. Potential therapeutic benefits of strategies directed to mitochondria. , 2010, Antioxidants & redox signaling.
[61] J. Smeitink,et al. Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency. , 2007, Biochimica et biophysica acta.
[62] P. Stacpoole. Why are there no proven therapies for genetic mitochondrial diseases? , 2011, Mitochondrion.
[63] B. Yankner,et al. Neural mechanisms of ageing and cognitive decline , 2010, Nature.
[64] Melissa M. Thomas,et al. Mitochondrial Structure and Function Are Disrupted by Standard Isolation Methods , 2011, PloS one.
[65] S. Kelley,et al. Mitochondria‐Penetrating Peptides: Sequence Effects and Model Cargo Transport , 2009, Chembiochem : a European journal of chemical biology.
[66] A. Kowaltowski,et al. Mitochondrial ion transport pathways: role in metabolic diseases. , 2010, Biochimica et biophysica acta.
[67] R. Rodenburg,et al. Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level. , 2010, Developmental disabilities research reviews.
[68] J. Duszyński,et al. NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation. , 2011, The international journal of biochemistry & cell biology.
[69] G. Shadel,et al. A compendium of human mitochondrial gene expression machinery with links to disease , 2010, Environmental and molecular mutagenesis.
[70] R. Rodenburg,et al. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. , 2008, Brain : a journal of neurology.
[71] D. Wallace,et al. The pathophysiology of mitochondrial disease as modeled in the mouse. , 2009, Genes & development.
[72] J. Smeitink,et al. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. , 2008, Biochimica et biophysica acta.
[73] W. Watt,et al. Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. , 2008, Cell metabolism.
[74] D. Marmolino. Friedreich's ataxia: Past, present and future , 2011, Brain Research Reviews.
[75] Werner J H Koopman,et al. Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling. , 2008, Methods.
[76] T. Cheng,et al. Newly developed strategies for multifunctional mitochondria-targeted agents in cancer therapy. , 2011, Drug discovery today.
[77] S. Dimauro,et al. Mitochondrial disorders in the nervous system. , 2008, Annual review of neuroscience.
[78] J. Smeitink,et al. Detection and manipulation of mitochondrial reactive oxygen species in mammalian cells. , 2010, Biochimica et biophysica acta.
[79] D. Turnbull,et al. Treatment for mitochondrial disorders. , 2012, The Cochrane database of systematic reviews.
[80] K. Lim,et al. Intracellular organelle-targeted non-viral gene delivery systems. , 2011, Journal of controlled release : official journal of the Controlled Release Society.
[81] O. Shirihai,et al. The interplay between mitochondrial dynamics and mitophagy. , 2011, Antioxidants & redox signaling.
[82] L. Ernster,et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. , 1962, The Journal of clinical investigation.
[83] M. Brand,et al. The on-off switches of the mitochondrial uncoupling proteins. , 2010, Trends in biochemical sciences.
[84] Hsiao-Wen Chen,et al. A mitochondrial etiology of Alzheimer and Parkinson disease. , 2012, Biochimica et biophysica acta.
[85] F. Djouadi,et al. Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts. , 2011, Human molecular genetics.
[86] T. Mak,et al. Regulation of cancer cell metabolism , 2011, Nature Reviews Cancer.
[87] Hoon-Chul Kang,et al. Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects , 2007, Epilepsia.
[88] P. Elliott,et al. Sirtuins — novel therapeutic targets to treat age-associated diseases , 2008, Nature Reviews Drug Discovery.
[89] Wolfgang Link,et al. High content screening: seeing is believing. , 2010, Trends in biotechnology.
[90] Cindy E J Dieteren,et al. Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation. , 2010, Antioxidants & redox signaling.
[91] S. Dimauro,et al. The genetics and pathology of oxidative phosphorylation , 2001, Nature Reviews Genetics.
[92] S. Ghosh,et al. Mitochondria in innate immune responses , 2011, Nature Reviews Immunology.
[93] M. Cookson,et al. Mitochondrial quality control and dynamics in Parkinson's disease. , 2012 .
[94] J. Smeitink,et al. Life cell quantification of mitochondrial membrane potential at the single organelle level , 2008, Cytometry. Part A : the journal of the International Society for Analytical Cytology.