Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

Taurine treatment prevents derangement of the hepatic γ-glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism

(2018) Kenneth N. Maclean et al.   FASEB JOURNAL

High concentration of branched-chain amino acids promotes oxidative stress, inflammation and migration of human peripheral blood mononuclear cells via mTORC1 activation

(2017) Olha Zhenyukh et al.   FREE RADICAL BIOLOGY AND MEDICINE

Coordination chemistry controls the thiol oxidase activity of the B12-trafficking protein CblC

(2017) Zhu Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia

(2017) Ana Rivera-Barahona et al.   MOLECULAR GENETICS AND METABOLISM

Therapies for mitochondrial diseases and current clinical trials

(2017) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Branched-Chain Amino Acids and Brain Metabolism

(2017) Justin E. Sperringer et al.   NEUROCHEMICAL RESEARCH

A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate (GABA) cycle and contributes to MMA-induced excitability

(2016) Luiz Fernando Freire Royes et al.   AMINO ACIDS

Synthetic Sensors for Reactive Oxygen Species Detection and Quantification: A Critical Review of Current Methods

(2016) Anne-Cécile Ribou   ANTIOXIDANTS & REDOX SIGNALING

Resveratrol and the mitochondria: From triggering the intrinsic apoptotic pathway to inducing mitochondrial biogenesis, a mechanistic view

(2016) Marcos Roberto de Oliveira et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

(2016) A. Oyarzabal et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

“Classical organic acidurias”: diagnosis and pathogenesis

(2016) Guglielmo RD Villani et al.   CLINICAL AND EXPERIMENTAL MEDICINE

In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder

(2016) L. Gallego-Villar et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mitophagy receptors sense stress signals and couple mitochondrial dynamic machinery for mitochondrial quality control

(2016) Hao Wu et al.   FREE RADICAL BIOLOGY AND MEDICINE

A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress

(2016) L. Zandberg et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers

(2016) Marianna Caterino et al.   Molecular BioSystems

Mouse redox histology using genetically encoded probes

(2016) Yuuta Fujikawa et al.   Science Signaling

Mouse redox histology using genetically encoded probes

(2016) Yuuta Fujikawa et al.   Science Signaling

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects

(2016) Ainhoa Martínez-Pizarro et al.   PLoS One

Antioxidants in Translational Medicine

(2015) Harald H.H.W. Schmidt et al.   ANTIOXIDANTS & REDOX SIGNALING

Incidence and physiological relevance of protein thiol switches

(2015) Lars I. Leichert et al.   BIOLOGICAL CHEMISTRY

Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload

(2015) Alexandre Umpierrez Amaral et al.   BRAIN RESEARCH

Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance

(2015) Camila Simioni Vanzin et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Oxidative stress in inherited mitochondrial diseases

(2015) Genki Hayashi et al.   FREE RADICAL BIOLOGY AND MEDICINE

Imaging mitochondrial reactive oxygen species with fluorescent probes: Current applications and challenges

(2015) X. Zhang et al.   FREE RADICAL RESEARCH

Urinary biomarkers of oxidative damage in Maple syrup urine disease: The l-carnitine role

(2015) Gilian Guerreiro et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Pathogenic Mutations Differentially Affect the Catalytic Activities of the Human B12-processing Chaperone CblC and Increase Futile Redox Cycling

(2015) Carmen Gherasim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

(2015) Rikke K. J. Olsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

(2015) Guilhian Leipnitz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism

(2015) Avihu Boneh   JOURNAL OF INHERITED METABOLIC DISEASE

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans

(2015) Marianna Caterino et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Quo vadis: the re-definition of “inborn metabolic diseases”

(2015) Eva Morava et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial function in ageing: coordination with signalling and transcriptional pathways

(2015) Fei Yin et al.   JOURNAL OF PHYSIOLOGY-LONDON

Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation

(2015) Caroline Paula Mescka et al.   METABOLIC BRAIN DISEASE

Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

(2015) James D. Weisfeld-Adams et al.   MOLECULAR GENETICS AND METABOLISM

Toward selective detection of reactive oxygen and nitrogen species with the use of fluorogenic probes – Limitations, progress, and perspectives

(2015) Karolina Debowska et al.   Pharmacological Reports

In vivolevels of mitochondrial hydrogen peroxide increase with age in mtDNA mutator mice

(2014) Angela Logan et al.   AGING CELL

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts

(2014) Lorena Gallego-Villar et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Homocysteine contribution to DNA damage in cystathionine β-synthase-deficient patients

(2014) Camila Simioni Vanzin et al.   GENE

Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

(2014) Angels García-Cazorla et al.   HUMAN MUTATION

Glutathione-dependent One-electron Transfer Reactions Catalyzed by a B12Trafficking Protein

(2014) Zhu Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The 2-Oxoacid Dehydrogenase Complexes in Mitochondria Can Produce Superoxide/Hydrogen Peroxide at Much Higher Rates Than Complex I

(2014) Casey L. Quinlan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: A role for oxidative stress in GA I neuropathology

(2014) Bianca Seminotti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Successful reversal of propionic acidaemia associated cardiomyopathy: Evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism

(2014) J. Baruteau et al.   MITOCHONDRION

Peroxiredoxin-2 and STAT3 form a redox relay for H2O2 signaling

(2014) Mirko C Sobotta et al.   Nature Chemical Biology

Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney

(2014) Zsuzsanna K. Zsengellér et al.   PEDIATRIC NEPHROLOGY

The Nrf2 regulatory network provides an interface between redox and intermediary metabolism

(2014) John D. Hayes et al.   TRENDS IN BIOCHEMICAL SCIENCES

Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia

(2014) Yael Wilnai et al.   ULTRASTRUCTURAL PATHOLOGY

Using exomarkers to assess mitochondrial reactive species in vivo

(2013) Angela Logan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Neurological Damage in MSUD: The Role of Oxidative Stress

(2013) Angela Sitta et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

How do nutritional antioxidants really work: Nucleophilic tone and para-hormesis versus free radical scavenging in vivo

(2013) Henry J. Forman et al.   FREE RADICAL BIOLOGY AND MEDICINE

l-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders

(2013) Graziela S. Ribas et al.   GENE

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

(2013) A. Lopes Costa et al.   HUMAN MOLECULAR GENETICS

Glutathione metabolism in cobalamin deficiency type C (cblC)

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

Genetic and cellular modifiers of oxidative stress: What can we learn from fatty acid oxidation defects?

(2013) Rikke Katrine Jentoft Olsen et al.   MOLECULAR GENETICS AND METABOLISM

Generation of a Hypomorphic Model of Propionic Acidemia Amenable to Gene Therapy Testing

(2013) Adam J Guenzel et al.   MOLECULAR THERAPY

A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence

(2013) Joanna Kaplon et al.   NATURE

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

(2013) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

(2013) Mathilde Nizon et al.   Orphanet Journal of Rare Diseases

Neurodegeneration, Mitochondrial Dysfunction, and Oxidative Stress

(2013) Emilio L. Streck et al.   Oxidative Medicine and Cellular Longevity

N-Acetylcysteine Prevents Spatial Memory Impairment Induced by Chronic Early Postnatal Glutaric Acid and Lipopolysaccharide in Rat Pups

(2013) Fernanda S. Rodrigues et al.   PLoS One

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

(2013) I. Manoli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unearthing the secrets of mitochondrial ROS and glutathione in bioenergetics

(2013) Ryan J. Mailloux et al.   TRENDS IN BIOCHEMICAL SCIENCES

Patients with organic acidaemias have an altered thiol status

(2012) Heli Salmi et al.   ACTA PAEDIATRICA

Survey of health status and complications among propionic acidemia patients

(2012) Loren Pena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Principles in Redox Signaling: From Chemistry to Functional Significance

(2012) Alberto Bindoli et al.   ANTIOXIDANTS & REDOX SIGNALING

Methods for Detection of Mitochondrial and Cellular Reactive Oxygen Species

(2012) Sergey I. Dikalov et al.   ANTIOXIDANTS & REDOX SIGNALING

Leucyl-tRNA Synthetase Is an Intracellular Leucine Sensor for the mTORC1-Signaling Pathway

(2012) Jung Min Han et al.   CELL

Neurochemical Evidence that the Metabolites Accumulating in 3-Methylcrotonyl-CoA Carboxylase Deficiency Induce Oxidative Damage in Cerebral Cortex of Young Rats

(2012) Ângela Zanatta et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Proteomics of vitamin B12 processing

(2012) Luciana Hannibal et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Antioxidant Therapy: Current Status and Future Prospects

(2012) O. Firuzi et al.   CURRENT MEDICINAL CHEMISTRY

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

(2012) Alfonso Oyarzabal et al.   HUMAN MUTATION

Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect

(2012) Caroline Paula Mescka et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects

(2012) Eva Richard et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

(2012) Lorena Gallego-Villar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatment of Inherited Homocystinurias

(2012) Henk Blom et al.   NEUROPEDIATRICS

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy

(2011) Jone López-Erauskin et al.   ANNALS OF NEUROLOGY

Mitochondrial Thiols in Antioxidant Protection and Redox Signaling: Distinct Roles for Glutathionylation and Other Thiol Modifications

(2011) Michael P. Murphy   ANTIOXIDANTS & REDOX SIGNALING

Oxidative Stress Parameters in Urine from Patients with Disorders of Propionate Metabolism: a Beneficial Effect of l-Carnitine Supplementation

(2011) Graziela S. Ribas et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease

(2011) T. Friedrich et al.   Disease Models & Mechanisms

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

Signal Transduction by Mitochondrial Oxidants

(2011) Toren Finkel   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency

(2011) H. Rocha et al.   Journal of Proteomics

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

(2011) Konstantina Fragaki et al.   MITOCHONDRION

The MMACHC proteome: Hallmarks of functional cobalamin deficiency in humans

(2011) Luciana Hannibal et al.   MOLECULAR GENETICS AND METABOLISM

Experimental evidence of oxidative stress in plasma of homocystinuric patients: A possible role for homocysteine

(2011) Camila Simioni Vanzin et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of propionic acidemia

(2011) Loren Pena et al.   MOLECULAR GENETICS AND METABOLISM

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type

(2010) Ana Jorge-Finnigan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Defining the pathogenicity of creatine deficiency syndrome

(2010) Patricia Alcaide et al.   HUMAN MUTATION

Reduction of lipid and protein damage in patients with disorders of propionate metabolism under treatment: a possible protective role of l-carnitine supplementation

(2010) Graziela S. Ribas et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Glutathione dysregulation and the etiology and progression of human diseases

(2009) Nazzareno Ballatori et al.   BIOLOGICAL CHEMISTRY

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

(2009) W. J. Zinnanti et al.   BRAIN

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

Homocysteine induces oxidative stress, inflammatory infiltration, fibrosis and reduces glycogen/glycoprotein content in liver of rats

(2009) Cristiane Matté et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

A Human Vitamin B12Trafficking Protein Uses Glutathione Transferase Activity for Processing Alkylcobalamins

(2009) Jihoe Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Profiling of oxidative stress in patients with inborn errors of metabolism

(2009) Peter J. Mc Guire et al.   MOLECULAR GENETICS AND METABOLISM

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

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism

(2008) Sven Wolfgang Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Interactions of β-carotene and flavonoids on the secretion of pro-inflammatory mediators in an in vitro system

(2008) Shu-Lan Yeh et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Mitochondrial dysfunction in mut methylmalonic acidemia

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

HPLC study of oxidation products of hydroethidine in chemical and biological systems: ramifications in superoxide measurements

(2008) Jacek Zielonka et al.   FREE RADICAL BIOLOGY AND MEDICINE

Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

(2008) S. Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake

(2008) S. R. Mirandola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Vitamins C and E and Beta Carotene Supplementation and Cancer Risk: A Randomized Controlled Trial

(2008) J. Lin et al.   JNCI-Journal of the National Cancer Institute

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

(2008) M.A. Cosson et al.   MOLECULAR GENETICS AND METABOLISM

Decyanation of vitamin B12 by a trafficking chaperone

(2008) J. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA