Development of pharmacological strategies for mitochondrial disorders

N-Acetylcysteine in Handgrip Exercise: Plasma Thiols and Adverse Reactions

(2016) Leonardo F. Ferreira et al.   INTERNATIONAL JOURNAL OF SPORT NUTRITION AND EXERCISE METABOLISM

Taurine Ameliorates Impaired the Mitochondrial Function and Prevents Stroke-like Episodes in Patients with MELAS

(2014) Mitsue Rikimaru et al.   INTERNAL MEDICINE

Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA

(2013) Yolanda Cámara et al.   DRUG DISCOVERY TODAY

Transgene Expression ofDrosophila melanogasterNucleoside Kinase Reverses Mitochondrial Thymidine Kinase 2 Deficiency

(2013) Shuba Krishnan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of mitochondria in aging

(2013) Ana Bratic et al.   JOURNAL OF CLINICAL INVESTIGATION

Gastrointestinal and hepatic manifestations of mitochondrial disorders

(2013) Shamima Rahman   JOURNAL OF INHERITED METABOLIC DISEASE

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

(2013) Sandra R Bacman et al.   NATURE MEDICINE

Pharmacological approaches to restore mitochondrial function

(2013) Pénélope A. Andreux et al.   NATURE REVIEWS DRUG DISCOVERY

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

(2013) M. Mancuso et al.   NEUROLOGY

Mitochondrial encephalomyopathies--Fifty years on: The Robert Wartenberg Lecture

(2013) S. DiMauro   NEUROLOGY

189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands

(2013) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Review of Clinical Trials for Mitochondrial Disorders: 1997–2012

(2013) Douglas S. Kerr   Neurotherapeutics

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

(2013) Majid Alfadhel et al.   Orphanet Journal of Rare Diseases

SURF1 deficiency: a multi-centre natural history study

(2013) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Barth syndrome

(2013) Sarah LN Clarke et al.   Orphanet Journal of Rare Diseases

Mitochondrial membrane lipid remodeling in pathophysiology: A new target for diet and therapeutic interventions

(2013) João P. Monteiro et al.   PROGRESS IN LIPID RESEARCH

Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion

(2013) Anne B. C. Cherry et al.   STEM CELLS

Mitochondrial Biogenesis through Activation of Nuclear Signaling Proteins

(2013) J. E. Dominy et al.   Cold Spring Harbor Perspectives in Biology

Alternative Oxidase Expression in the Mouse Enables Bypassing Cytochrome c Oxidase Blockade and Limits Mitochondrial ROS Overproduction

(2013) Riyad El-Khoury et al.   PLoS Genetics

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Small Molecule Promotes Mitochondrial Fusion in Mammalian Cells

(2012) Danling Wang et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Mitochondria: In Sickness and in Health

(2012) Jodi Nunnari et al.   CELL

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects

(2012) Mercedes Serrano et al.   DRUG DISCOVERY TODAY

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

(2012) Ivano Di Meo et al.   EMBO Molecular Medicine

Targeting drugs to mitochondria

(2012) Anne Heller et al.   EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency

(2012) L. Garcia-Corzo et al.   HUMAN MOLECULAR GENETICS

A novel Drp1 inhibitor diminishes aberrant mitochondrial fission and neurotoxicity

(2012) X. Qi et al.   JOURNAL OF CELL SCIENCE

The Dynamics of the Mitochondrial Organelle as a Potential Therapeutic Target

(2012) R Anne Stetler et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

(2012) Caroline Michot et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

(2012) F. Lamari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases

(2012) Peter W. Stacpoole et al.   MITOCHONDRION

D. melanogaster, mitochondria and neurodegeneration: small model organism, big discoveries

(2012) Valentina Debattisti et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

(2012) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

(2012) Stefanie Bulst et al.   MOLECULAR GENETICS AND METABOLISM

Towards germline gene therapy of inherited mitochondrial diseases

(2012) Masahito Tachibana et al.   NATURE

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome

(2012) Caroline Comte et al.   NUCLEIC ACIDS RESEARCH

A Pilot Randomized, Placebo Controlled, Double Blind Phase I Trial of the Novel SIRT1 Activator SRT2104 in Elderly Volunteers

(2012) Vincenzo Libri et al.   PLoS One

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

(2012) C. S. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

(2012) B.-X. Ke et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Plasma thiol status is altered in children with mitochondrial diseases

(2012) Heli Salmi et al.   SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION

Preclinical Toxicity Evaluation of Erythrocyte-Encapsulated Thymidine Phosphorylase in BALB/c Mice and Beagle Dogs: An Enzyme-Replacement Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

(2012) Michelle Levene et al.   TOXICOLOGICAL SCIENCES

UK fertilisation authority launches consultation on mitochondrial replacement techniques

(2012) T. Pitts-Tucker   BMJ-British Medical Journal

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

(2011) Satomi Mitsuhashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MELAS: A nationwide prospective cohort study of 96 patients in Japan

(2011) Shuichi Yatsuga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

A mitochondrial etiology of Alzheimer and Parkinson disease

(2011) Pinar Coskun et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

(2011) Thomas Klopstock et al.   BRAIN

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

(2011) Carlo Viscomi et al.   Cell Metabolism

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE

(2011) J Torres-Torronteras et al.   GENE THERAPY

Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts

(2011) J. Bastin et al.   HUMAN MOLECULAR GENETICS

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice

(2011) Shuichi Yatsuga et al.   HUMAN MOLECULAR GENETICS

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Expression of GFP in the Mitochondrial Compartment Using DQAsome-Mediated Delivery of an Artificial Mini-mitochondrial Genome

(2011) Diana Lyrawati et al.   PHARMACEUTICAL RESEARCH

Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound

(2011) Anna Golubitzky et al.   PLoS One

Therapy for mitochondrial disorders: Little proof, high research activity, some promise

(2011) Anu Suomalainen   Seminars in Fetal & Neonatal Medicine

MELAS and l-arginine therapy: pathophysiology of stroke-like episodes

(2010) Yasutoshi Koga et al.   Annals of the New York Academy of Sciences

Mitochondrial Energetics and Therapeutics

(2010) Douglas C. Wallace et al.   Annual Review of Pathology-Mechanisms of Disease

Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial Recruitment

(2010) Byron L. Lam   ARCHIVES OF OPHTHALMOLOGY

Mitochondrial matrix delivery using MITO-Porter, a liposome-based carrier that specifies fusion with mitochondrial membranes

(2010) Yukari Yasuzaki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

(2010) J Halter et al.   BONE MARROW TRANSPLANTATION

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

(2010) J P Bonnefont et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The Role of Mitochondria in the Pathogenesis of Type 2 Diabetes

(2010) Mary-Elizabeth Patti et al.   ENDOCRINE REVIEWS

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: A viable mouse model for mitochondrial hepatopathy

(2010) Per Levéen et al.   HEPATOLOGY

Mitochondrial myopathy induces a starvation-like response

(2010) Henna Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Ketogenic diet slows down mitochondrial myopathy progression in mice

(2010) Sofia Ahola-Erkkilä et al.   HUMAN MOLECULAR GENETICS

Polymeric nanoreactors for enzyme replacement therapy of MNGIE

(2010) Caroline De Vocht et al.   JOURNAL OF CONTROLLED RELEASE

Cerebral folate deficiency

(2010) Keith Hyland et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A randomized trial of coenzyme Q10in mitochondrial disorders

(2010) Elisa I. Glover et al.   MUSCLE & NERVE

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

(2010) Lyndsey Craven et al.   NATURE

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

Gene Expression in a Drosophila Model of Mitochondrial Disease

(2010) Daniel J. M. Fernández-Ayala et al.   PLoS One

Successful Amelioration of Mitochondrial Optic Neuropathy Using the Yeast NDI1 Gene in a Rat Animal Model

(2010) Mathieu Marella et al.   PLoS One

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Resveratrol induces mitochondrial biogenesis in endothelial cells

(2009) Anna Csiszar et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Mitochondrial Glutathione, a Key Survival Antioxidant

(2009) Montserrat Marí et al.   ANTIOXIDANTS & REDOX SIGNALING

Resveratrol is Not a Direct Activator of SIRT1 Enzyme Activity

(2009) Dirk Beher et al.   Chemical Biology & Drug Design

Expression of the alternative oxidase complements cytochromecoxidase deficiency in human cells

(2009) Emmanuel P. Dassa et al.   EMBO Molecular Medicine

Melatonin inhibits cardiolipin peroxidation in mitochondria and prevents the mitochondrial permeability transition and cytochrome c release

(2009) Giuseppe Petrosillo et al.   FREE RADICAL BIOLOGY AND MEDICINE

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

(2009) S. Bulst et al.   HUMAN MOLECULAR GENETICS

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2

(2009) Hua Yang et al.   HUMAN MOLECULAR GENETICS

Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?

(2009) M. L. S. Oppenheim et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

(2009) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

(2009) S Rahman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitochondrial gene replacement in primate offspring and embryonic stem cells

(2009) Masahito Tachibana et al.   NATURE

AMPK regulates energy expenditure by modulating NAD+ metabolism and SIRT1 activity

(2009) Carles Cantó et al.   NATURE

Optimized Allotopic Expression of the Human Mitochondrial ND4 Prevents Blindness in a Rat Model of Mitochondrial Dysfunction

(2008) Sami Ellouze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

(2008) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oxidative stress and mitochondrial dysfunction in neurodegeneration; cardiolipin a critical target?

(2008) Simon Pope et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

(2008) J. L. Murphy et al.   BRAIN

RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype

(2008) Tina Wenz et al.   Cell Metabolism

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism

Chemical Inhibition of the Mitochondrial Division Dynamin Reveals Its Role in Bax/Bak-Dependent Mitochondrial Outer Membrane Permeabilization

(2008) Ann Cassidy-Stone et al.   DEVELOPMENTAL CELL

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

(2008) X. Zhou et al.   HUMAN MOLECULAR GENETICS

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

(2008) Hasan O. Akman et al.   HUMAN MOLECULAR GENETICS

The ketogenic diet increases mitochondrial glutathione levels

(2008) Stuart G. Jarrett et al.   JOURNAL OF NEUROCHEMISTRY

CARRIER ERYTHROCYTE ENTRAPPED THYMIDINE PHOSPHORYLASE THERAPY FOR MNGIE

(2008) N. F. Moran et al.   NEUROLOGY

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE