Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy

Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine

(2016) Gyu Song et al.   MOLECULAR MEDICINE

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

(2016) S. Lühl et al.   Orphanet Journal of Rare Diseases

The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders

(2016) Liza Douiev et al.   Journal of Clinical Medicine

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

(2015) Shuichi Yatsuga et al.   ANNALS OF NEUROLOGY

Is Cognitive Impairment in Cirrhotic Patients Due to Increased Peroxynitrite and Oxidative Stress?

(2015) Carla Gimenez-Garzó et al.   ANTIOXIDANTS & REDOX SIGNALING

Glutathione redox imbalance in brain disorders

(2015) Feng Gu et al.   CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE

Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome

(2015) Stefania Filosa et al.   FREE RADICAL BIOLOGY AND MEDICINE

Clinical trials of N-acetylcysteine in psychiatry and neurology: A systematic review

(2015) Deepmala et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease

(2015) D J Wright et al.   Translational Psychiatry

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

(2014) Susana Kalko et al.   BMC GENOMICS

Treatment of Mitochondrial Disorders

(2014) Gregory M. Enns   JOURNAL OF CHILD NEUROLOGY

Oxidative stress and mitochondrial dysfunction in Kindler syndrome

(2014) Elisabeth Zapatero-Solana et al.   Orphanet Journal of Rare Diseases

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

(2014) Cinzia Signorini et al.   Oxidative Medicine and Cellular Longevity

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status

(2014) Gregory M. Enns et al.   PLoS One

Cysteamine: an old drug with new potential

(2013) Martine Besouw et al.   DRUG DISCOVERY TODAY

A new LC–MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood

(2013) Tereza Moore et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Glutathione metabolism in cobalamin deficiency type C (cblC)

(2013) Anna Pastore et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Effects ofN-acetylcysteine on cytokines in non-acetaminophen acute liver failure: potential mechanism of improvement in transplant-free survival

(2013) R. Todd Stravitz et al.   LIVER INTERNATIONAL

Glutathione: A redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

(2013) Anna Pastore et al.   MOLECULAR GENETICS AND METABOLISM

Redox metabolism abnormalities in autistic children associated with mitochondrial disease

(2013) R E Frye et al.   Translational Psychiatry

Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder

(2013) R E Frye et al.   Translational Psychiatry

Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids

(2013) M. Grazia Cotticelli et al.   Redox Biology

Patients with organic acidaemias have an altered thiol status

(2012) Heli Salmi et al.   ACTA PAEDIATRICA

Effect of EPI-743 on the Clinical Course of the Mitochondrial Disease Leber Hereditary Optic Neuropathy

(2012) Alfredo A. Sadun   ARCHIVES OF NEUROLOGY

Mitochondrial glutathione: Features, regulation and role in disease

(2012) Montserrat Marí et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

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

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

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

(2012) Francis G. Blankenberg et al.   MOLECULAR GENETICS AND METABOLISM

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

(2012) David R. Lynch et al.   MOVEMENT DISORDERS

Mitochondrial dysfunction and oxidative stress in Parkinson's disease and monogenic parkinsonism

(2012) David N. Hauser et al.   NEUROBIOLOGY OF DISEASE

Plasma thiol status is altered in children with mitochondrial diseases

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

Detection of glutathione in whole blood after stabilization with N-ethylmaleimide

(2011) Daniela Giustarini et al.   ANALYTICAL BIOCHEMISTRY

α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging

(2011) William D. Shrader et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Experimental Evidence that Methylmalonic Acid Provokes Oxidative Damage and Compromises Antioxidant Defenses in Nerve Terminal and Striatum of Young Rats

(2011) Carolina Gonçalves Fernandes et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia

(2011) Daniela R. Melo et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies

(2011) Moacir Wajner et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

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

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

(2011) D A Rossignol et al.   MOLECULAR PSYCHIATRY

Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities

(2010) Renata Santos et al.   ANTIOXIDANTS & REDOX SIGNALING

Does oxidative stress contribute to the pathology of Friedreich’s ataxia? A radical question

(2010) Jeffrey S. Armstrong et al.   FASEB JOURNAL

Mitochondrial myopathy induces a starvation-like response

(2010) Henna Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Biomarkers for mitochondrial respiratory chain disorders

(2010) Anu Suomalainen   JOURNAL OF INHERITED METABOLIC DISEASE

Oxidative Stress in the Progression of Alzheimer Disease in the Frontal Cortex

(2010) Mubeen A. Ansari et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia

(2010) Gavin E. Murphy et al.   JOURNAL OF STRUCTURAL BIOLOGY

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome

(2010) Vittoria Infantino et al.   MOLECULAR GENETICS AND METABOLISM

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

(2010) Carlo Viscomi et al.   NATURE MEDICINE

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

(2010) O. Shaham et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Potential of cystamine and cysteamine in the treatment of neurodegenerative diseases

(2010) C. Gibrat et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Direct Exposure to Ammonia and Hyperammonemia Increase the Extracellular Accumulation and Degradation of Astroglia-Derived Glutathione in the Rat Prefrontal Cortex

(2010) Wojciech Hilgier et al.   TOXICOLOGICAL SCIENCES

Glutathione dysregulation and the etiology and progression of human diseases

(2009) Nazzareno Ballatori et al.   BIOLOGICAL CHEMISTRY

Diagnostic Approach to Mitochondrial Disorders: the Need for a Reliable Biomarker

(2009) M. Mancuso et al.   CURRENT MOLECULAR MEDICINE

Glutathione—a review on its role and significance in Parkinson’s disease

(2009) Heather L. Martin et al.   FASEB JOURNAL

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

(2009) Eva Richard et al.   HUMAN MUTATION

Simultaneous determination of reduced glutathione, glutathione disulphide and glutathione sulphonamide in cells and physiological fluids by isotope dilution liquid chromatography–tandem mass spectrometry

(2009) D. Tim Harwood et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Determination of glutathione and glutathione disulfide in biological samples: An in-depth review

(2009) Péter Monostori et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Chromatographic and mass spectrometric analysis of glutathione in biological samples

(2009) Yusuke Iwasaki et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

(2009) V. Valayannopoulos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

(2009) Yves de Keyzer et al.   PEDIATRIC RESEARCH

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

(2009) K. R. Atkuri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Glutathione and Parkinson's disease: Is this the elephant in the room?

(2008) Gail D. Zeevalk et al.   BIOMEDICINE & PHARMACOTHERAPY

Mitochondrial dysfunction in mut methylmalonic acidemia

(2008) Randy J. Chandler et al.   FASEB JOURNAL

Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats

(2008) Alexandre F. Solano et al.   FREE RADICAL RESEARCH

Kinetic characterization of l-[3H]glutamate uptake inhibition and increase oxidative damage induced by glutaric acid in striatal synaptosomes of rats

(2008) Danieli Valnes Magni et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Glutathione: Overview of its protective roles, measurement, and biosynthesis

(2008) Henry Jay Forman et al.   MOLECULAR ASPECTS OF MEDICINE

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM

Increased mitochondrial oxidative damage in patients with sporadic amyotrophic lateral sclerosis

(2007) Takahiko Murata et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES