Therapies for mitochondrial diseases and current clinical trials.

[1]  W. Hauswirth,et al.  Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results. , 2017, Ophthalmology.

[2]  W. Craigen,et al.  Mitochondrial DNA maintenance defects. , 2017, Biochimica et biophysica acta. Molecular basis of disease.

[3]  E. Barca,et al.  Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency , 2017, Annals of neurology.

[4]  P. Yu-Wai-Man,et al.  Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies. , 2017, Journal of neuromuscular diseases.

[5]  M. Tarnopolsky,et al.  Solid organ transplantation in primary mitochondrial disease: Proceed with caution. , 2016, Molecular genetics and metabolism.

[6]  F. Scaglia,et al.  Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. , 2016, JAMA neurology.

[7]  Lisa T. Emrick,et al.  Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. , 2016, Molecular genetics and metabolism.

[8]  W. Feuer,et al.  Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results. , 2016, Ophthalmology.

[9]  D. Turnbull,et al.  Potential compounds for the treatment of mitochondrial disease. , 2015, British medical bulletin.

[10]  G. Enns Treatment of Mitochondrial Disorders , 2014, Journal of child neurology.

[11]  D. Thorburn,et al.  Turn up the power – pharmacological activation of mitochondrial biogenesis in mouse models , 2014, British journal of pharmacology.

[12]  H. Szeto First‐in‐class cardiolipin‐protective compound as a therapeutic agent to restore mitochondrial bioenergetics , 2014, British journal of pharmacology.

[13]  T. Marquardt,et al.  Long‐term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single‐center experience and a review of the literature , 2014, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

[14]  F. Rivier,et al.  [Mitochondrial neurogastrointestinal encephalopathy disease]. , 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[15]  W. Craigen,et al.  The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome , 2013, Meta gene.

[16]  V. Mootha,et al.  Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. , 2013, JAMA neurology.

[17]  C. Moraes,et al.  RETRACTED: Bezafibrate improves mitochondrial function in the CNS of a mouse model of mitochondrial encephalopathy. , 2013, Mitochondrion.

[18]  F. Villarreal,et al.  Effects of (-)-epicatechin and derivatives on nitric oxide mediated induction of mitochondrial proteins. , 2013, Bioorganic & medicinal chemistry letters.

[19]  L. P. Van den Heuvel,et al.  Cysteamine: an old drug with new potential. , 2013, Drug discovery today.

[20]  E. Bertini,et al.  Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies. , 2013, Molecular genetics and metabolism.

[21]  S. Subramony,et al.  Long-term safety of dichloroacetate in congenital lactic acidosis. , 2013, Molecular genetics and metabolism.

[22]  R. Artuch,et al.  Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency , 2013, Pediatrics.

[23]  K. Al-Thihli,et al.  Drug treatment of inborn errors of metabolism: a systematic review , 2013, Archives of Disease in Childhood.

[24]  E. Pretorius,et al.  Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation. , 2013, Nutrition reviews.

[25]  T. Klopstock,et al.  Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy , 2013, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[26]  N. Siafakas,et al.  Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease , 2013, Sleep and Breathing.

[27]  F. Scaglia,et al.  Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options , 2013, Neurotherapeutics.

[28]  P. Chinnery,et al.  Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy , 2012, Brain : a journal of neurology.

[29]  P. J. Elliot,et al.  A Pilot Randomized, Placebo Controlled, Double Blind Phase I Trial of the Novel SIRT1 Activator SRT2104 in Elderly Volunteers , 2012, PloS one.

[30]  F. Scaglia,et al.  TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form , 2012 .

[31]  W. Craigen,et al.  Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. , 2012, Molecular genetics and metabolism.

[32]  E. Bertini,et al.  EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. , 2012, Molecular genetics and metabolism.

[33]  C. Kang,et al.  Role of PGC-1α signaling in skeletal muscle health and disease , 2012, Annals of the New York Academy of Sciences.

[34]  T. Prolla,et al.  Long-Term Bezafibrate Treatment Improves Skin and Spleen Phenotypes of the mtDNA Mutator Mouse , 2012, PloS one.

[35]  W. Craigen,et al.  MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome , 2012 .

[36]  W. Hauswirth,et al.  Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber’s hereditary optic neuropathy in a mouse model , 2012, Proceedings of the National Academy of Sciences.

[37]  Lisa T. Emrick,et al.  Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. , 2012, Molecular genetics and metabolism.

[38]  P. Barboni,et al.  Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. , 2012, Archives of neurology.

[39]  A. Suomalainen,et al.  Mechanisms of mitochondrial diseases , 2012, Annals of medicine.

[40]  F. Blankenberg,et al.  Initial experience in the treatment of inherited mitochondrial disease with EPI-743. , 2012, Molecular genetics and metabolism.

[41]  R. Horvath Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10) , 2012, Journal of Inherited Metabolic Disease.

[42]  E. Benarroch,et al.  POLG-related disorders , 2011, Neurology.

[43]  Anna Golubitzky,et al.  Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound , 2011, PloS one.

[44]  G. Perkins,et al.  (–)‐Epicatechin enhances fatigue resistance and oxidative capacity in mouse muscle , 2011, The Journal of physiology.

[45]  P. Chinnery,et al.  A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy , 2011, Brain : a journal of neurology.

[46]  M. Sporn,et al.  Neuroprotective effect of Nrf2/ARE activators, CDDO ethylamide and CDDO trifluoroethylamide, in a mouse model of amyotrophic lateral sclerosis. , 2011, Free radical biology & medicine.

[47]  G. Enns,et al.  α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. , 2011, Bioorganic & medicinal chemistry letters.

[48]  M. Tarnopolsky Creatine as a therapeutic strategy for myopathies , 2011, Amino Acids.

[49]  Y. Mechref,et al.  Increased Protein Nitration in Mitochondrial Diseases: Evidence for Vessel Wall Involvement , 2010, Molecular & Cellular Proteomics.

[50]  Thomas Meitinger,et al.  Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency , 2010, Nature Genetics.

[51]  Gerald R Moran,et al.  A randomized trial of coenzyme Q10 in mitochondrial disorders , 2010, Muscle & nerve.

[52]  V. Tiranti,et al.  Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy , 2010, Nature Medicine.

[53]  P. Laforêt,et al.  Long‐Term Follow‐Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency , 2010, Clinical pharmacology and therapeutics.

[54]  G. Paradies,et al.  Oxidative stress, mitochondrial bioenergetics, and cardiolipin in aging. , 2010, Free radical biology & medicine.

[55]  L. Murri,et al.  Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation , 2010, Journal of Neurology.

[56]  Marni J. Falk,et al.  A modern approach to the treatment of mitochondrial disease , 2009, Current treatment options in neurology.

[57]  M. Schlame,et al.  The role of cardiolipin in the structural organization of mitochondrial membranes. , 2009, Biochimica et biophysica acta.

[58]  G. Enns,et al.  Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia , 2009, Proceedings of the National Academy of Sciences.

[59]  R. Rodenburg,et al.  Mitochondrial Energy Production Correlates With the Age-Related BMI , 2009, Pediatric Research.

[60]  P. Kaufmann,et al.  Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes , 2008, Annals of the New York Academy of Sciences.

[61]  Jun Li,et al.  Distinct structural mechanisms for inhibition of pyruvate dehydrogenase kinase isoforms by AZD7545, dichloroacetate, and radicicol. , 2007, Structure.

[62]  A. Oliveira,et al.  The role of nitric oxide in muscle fibers with oxidative phosphorylation defects. , 2007, Biochemical and biophysical research communications.

[63]  D. Turnbull,et al.  ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. , 2007, Brain : a journal of neurology.

[64]  M. Beal,et al.  Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders , 2007, Muscle & nerve.

[65]  T. Matsuishi,et al.  MELAS and L-arginine therapy. , 2007, Mitochondrion.

[66]  Huiyun Liang,et al.  Staying Current PGC-1 : a key regulator of energy metabolism , 2006 .

[67]  Isabella Moroni,et al.  Effects of riboflavin in children with complex II deficiency , 2006, Brain and Development.

[68]  H. Savolainen Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial , 2006, Neurology.

[69]  R. Rodenburg,et al.  Dietary intervention and oxidative phosphorylation capacity , 2006, Journal of Inherited Metabolic Disease.

[70]  T. Matsuishi,et al.  Endothelial dysfunction in MELAS improved by l-arginine supplementation , 2006, Neurology.

[71]  D. Theriaque,et al.  Controlled Clinical Trial of Dichloroacetate for Treatment of Congenital Lactic Acidosis in Children , 2006, Pediatrics.

[72]  F. Scaglia,et al.  The Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-Like Episodes (MELAS) Syndrome , 2006, CNS drugs.

[73]  Huiyun Liang,et al.  PGC-1alpha: a key regulator of energy metabolism. , 2006, Advances in physiology education.

[74]  Massimo Zeviani,et al.  Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. , 2006, Cell metabolism.

[75]  E. Schon,et al.  Hypocitrullinemia in patients with MELAS: an insight into the “MELAS paradox” , 2005, Journal of the Neurological Sciences.

[76]  Robert S. Balaban,et al.  Mitochondria, Oxidants, and Aging , 2005, Cell.

[77]  S. Fujimoto,et al.  l-Arginine improves the symptoms of strokelike episodes in MELAS , 2005, Neurology.

[78]  A. Bjorksten,et al.  N-acetylcysteine enhances muscle cysteine and glutathione availability and attenuates fatigue during prolonged exercise in endurance-trained individuals. , 2004, Journal of applied physiology.

[79]  R. Naviaux,et al.  Chronic treatment of mitochondrial disease patients with dichloroacetate. , 2004, Molecular genetics and metabolism.

[80]  A. Bizzi,et al.  Cerebral White Matter Involvement in Children with Mitochondrial Encephalopathies , 2002, Neuropediatrics.

[81]  S. Di Giovanni,et al.  Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency , 2001, Neurology.

[82]  E. Shoubridge,et al.  Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects , 2001, Annals of neurology.

[83]  A. Munnich,et al.  Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency , 2000, The Lancet.

[84]  E. Naito,et al.  Mitochondrial myopathy and familial thiamine deficiency , 2000, Muscle & nerve.

[85]  A. Munnich Defects of the Respiratory Chain , 2000 .

[86]  L. Packer,et al.  Comparison of the effect of α-lipoic acid and α-tocopherol supplementation on measures of oxidative stress , 1999 .

[87]  M. Tarnopolsky,et al.  Direct measurement of high‐energy phosphate compounds in patients with neuromuscular disease , 1999, Muscle & nerve.

[88]  L. Packer,et al.  Comparison of the effect of alpha-lipoic acid and alpha-tocopherol supplementation on measures of oxidative stress. , 1999, Free radical biology & medicine.

[89]  D. Kerr,et al.  Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets , 1997, Neurology.

[90]  M. Tarnopolsky,et al.  A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies , 1997, Muscle & nerve.

[91]  A. Schapira,et al.  Mitochondrial disorders: an overview. , 1997, Journal of bioenergetics and biomembranes.

[92]  F. Gabreëls,et al.  Treatment of complex I deficiency with riboflavin , 1993, Journal of the Neurological Sciences.