Monogenic mitochondrial disorders.

Rare monogenic disorders of mitochondria have shed light on mitochondrial function, and the development of therapeutic agents for these disorders may be applicable to more common sporadic diseases characterized by mitochondrial dysfunction.

[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.