Peroxisome proliferator-activated receptor (PPAR) agonists as a potential therapy for inherited metabolic disorders

Antioxidant system disturbances and mitochondrial dysfunction induced by 3-methyglutaric acid in rat heart are prevented by bezafibrate

(2022) Nevton Teixeira da Rosa-Junior et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program

(2022) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Disturbance of Mitochondrial Dynamics, Endoplasmic Reticulum–Mitochondria Crosstalk, Redox Homeostasis, and Inflammatory Response in the Brain of Glutaryl-CoA Dehydrogenase-Deficient Mice: Neuroprotective Effects of Bezafibrate

(2022) Bianca Seminotti et al.   MOLECULAR NEUROBIOLOGY

Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics

(2022) Olivia M. D’Annibale et al.   Cells

Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets

(2021) Hana M. Zegallai et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

(2021) Gizem Inak et al.   Nature Communications

Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency

(2021) Martin Lund et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

(2021) Laura Rodríguez-Pascau et al.   Science Translational Medicine

Inborn errors of metabolism associated with 3-methylglutaconic aciduria

(2021) Dylan E. Jones et al.   CLINICA CHIMICA ACTA

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

(2021) Terry G. J. Derks et al.   Nutrients

Effects of clofibrate and KH176 on life span and motor function in mitochondrial complex I-deficient mice

(2020) Sanne J.C.M. Frambach et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Metabolic effects of bezafibrate in mitochondrial disease

(2020) Hannah Steele et al.   EMBO Molecular Medicine

X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

(2020) Bela R. Turk et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

In vivo evidence that bezafibrate prevents oxidative stress and mitochondrial dysfunction caused by 3-methylglutaric acid in rat liver

(2020) Nevton Teixeira da Rosa-Junior et al.   BIOCHIMIE

Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency

(2020) Hideaki Shiraishi et al.   BRAIN & DEVELOPMENT

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

(2020) Sarah L. Stenton et al.   EBioMedicine

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

(2020) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

An International Classification of Inherited Metabolic Disorders ( ICIMD )

(2020) Carlos R. Ferreira et al.   JOURNAL OF INHERITED METABOLIC DISEASE

PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

(2020) Laura Rodríguez-Pascau et al.   NEUROBIOLOGY OF DISEASE

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies

(2020) Michelle Mereis et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies

(2019) Fatima Djouadi et al.   Cells

Bezafibrate In Vivo Administration Prevents 3-Methylglutaric Acid-Induced Impairment of Redox Status, Mitochondrial Biogenesis, and Neural Injury in Brain of Developing Rats

(2019) Nevton Teixeira da Rosa-Junior et al.   NEUROTOXICITY RESEARCH

Neurological manifestations of organic acidurias

(2019) Moacir Wajner   Nature Reviews Neurology

Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia

(2019) Hye-Ri Kang et al.   Molecular Therapy-Methods & Clinical Development

Rosiglitazone ameliorates tissue plasminogen activator‐induced brain hemorrhage after stroke

(2019) Yan Li et al.   CNS Neuroscience & Therapeutics

3-Hydroxy-3-Methylglutaric Acid Impairs Redox and Energy Homeostasis, Mitochondrial Dynamics, and Endoplasmic Reticulum–Mitochondria Crosstalk in Rat Brain

(2019) Mateus Struecker da Rosa et al.   NEUROTOXICITY RESEARCH

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

(2019) Wei Zhang et al.   Orphanet Journal of Rare Diseases

Peroxisome proliferator-activated receptor agonists and antagonists: a patent review (2014-present)

(2019) Ichiro Takada et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

PGC-1α sparks the fire of neuroprotection against neurodegenerative disorders

(2018) Jianjun Lv et al.   AGEING RESEARCH REVIEWS

A proposed nosology of inborn errors of metabolism

(2018) Carlos R. Ferreira et al.   GENETICS IN MEDICINE

Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

(2018) Marianthi Breza et al.   JOURNAL OF NEUROLOGY

Bezafibrate Prevents Glycine-Induced Increase of Antioxidant Enzyme Activities in Rat Striatum

(2018) Belisa Parmeggiani et al.   MOLECULAR NEUROBIOLOGY

Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia

(2018) Shannon Chiang et al.   NEUROCHEMISTRY INTERNATIONAL

Inborn Errors of Metabolism Overview

(2018) Jean-Marie Saudubray et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

(2018) Rachid Boutoual et al.   Scientific Reports

The Effects of PPAR Stimulation on Cardiac Metabolic Pathways in Barth Syndrome Mice

(2018) Caitlin Schafer et al.   Frontiers in Pharmacology

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia

(2018) Lauren R Waskowicz et al.   HUMAN MOLECULAR GENETICS

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

(2018) Guilhian Leipnitz et al.   Scientific Reports

Intracellular lipids are an independent cause of liver injury and chronic kidney disease in non alcoholic fatty liver disease-like context

(2018) Laure Monteillet et al.   Molecular Metabolism

Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis

(2018) Mary A. Garcia et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency

(2018) Kenji Yamada et al.   JOURNAL OF HUMAN GENETICS

The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models

(2018) Angela T. S. Wyse et al.   NEUROTOXICITY RESEARCH

Risk factors for poor bone health in primary mitochondrial disease

(2017) Shifa S. Gandhi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome

(2017) Yan Huang et al.   Orphanet Journal of Rare Diseases

The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

(2016) Sander M. Houten et al.   Annual Review of Physiology

3-Hydroxy-3-methylglutaric and 3-methylglutaric acids impair redox status and energy production and transfer in rat heart: relevance for the pathophysiology of cardiac dysfunction in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

(2016) Mateus Struecker da Rosa et al.   FREE RADICAL RESEARCH

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

(2016) Marta Kanabus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molybdenum cofactor deficiency

(2016) Paldeep S. Atwal et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Inborn Errors of Metabolism

(2015) Ayman W. El-Hattab   CLINICS IN PERINATOLOGY

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate

(2015) Fatima Djouadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Evidence that 3-hydroxy-3-methylglutaric and 3-methylglutaric acids induce DNA damage in rat striatum

(2015) Mateus Struecker da Rosa et al.   METABOLIC BRAIN DISEASE

Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency

(2014) Tetsuhiko Yasuno et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen receptors

(2014) Madoka Iida et al.   HUMAN MOLECULAR GENETICS

No effect of bezafibrate in patients with CPTII and VLCAD deficiencies

(2014) Mette Cathrine Ørngreen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene

(2014) Ayako Shioya et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial

(2014) M. C. Orngreen et al.   NEUROLOGY

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review

(2014) Kimihiko Kaneko et al.   NEUROMUSCULAR DISORDERS

Peroxisome proliferator-activated receptors and their ligands: nutritional and clinical implications - a review

(2014) Bogna Grygiel-Górniak   Nutrition Journal

Liver transplantation in glycogen storage disease type I

(2014) Susanna JB Boers et al.   Orphanet Journal of Rare Diseases

Physiological Functions of Peroxisome Proliferator-Activated Receptor β

(2014) Jaap G. Neels et al.   PHYSIOLOGICAL REVIEWS

The effect of small molecules on nuclear-encoded translation diseases

(2013) Devorah Soiferman et al.   BIOCHIMIE

Effects of Bezafibrate Treatment in a Patient and a Carrier With Mutations in the PNPLA2 Gene, Causing Neutral Lipid Storage Disease With Myopathy

(2013) Tineke van de Weijer et al.   CIRCULATION RESEARCH

Redox homeostasis is compromised in vivo by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in rat cerebral cortex and liver

(2013) M. S. da Rosa et al.   FREE RADICAL RESEARCH

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

(2013) Jessica Nouws et al.   HUMAN MOLECULAR GENETICS

Mitochondrial pathophysiology in Friedreich's ataxia

(2013) Pilar González-Cabo et al.   JOURNAL OF NEUROCHEMISTRY

PPARγ signaling and metabolism: the good, the bad and the future

(2013) Maryam Ahmadian et al.   NATURE MEDICINE

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay

(2012) Seiji Yamaguchi et al.   MOLECULAR GENETICS AND METABOLISM

Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study

(2012) Pascal Laforêt et al.   MOLECULAR GENETICS AND METABOLISM

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

(2012) Alberto Casarin et al.   Orphanet Journal of Rare Diseases

Long-Term Bezafibrate Treatment Improves Skin and Spleen Phenotypes of the mtDNA Mutator Mouse

(2012) Lloye M. Dillon et al.   PLoS One

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

(2011) Carlo Viscomi et al.   Cell Metabolism

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

(2011) Shuichi Yatsuga et al.   HUMAN MOLECULAR GENETICS

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

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

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

(2011) Arnulf H. Koeppen   JOURNAL OF THE NEUROLOGICAL SCIENCES

Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy

(2011) Min Yao et al.   MOLECULAR GENETICS AND METABOLISM

ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1

(2011) Guenter Haemmerle et al.   NATURE MEDICINE

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

Pediatric Liver Transplantation for Inherited Metabolic Liver Disease: A Single-Center Experience

(2011) R. Rosencrantz et al.   TRANSPLANTATION PROCEEDINGS

Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches

(2010) Stéphanie Gobin-Limballe et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

A metabolic shift induced by a PPAR panagonist markedly reduces the effects of pathogenic mitochondrial tRNA mutations

(2010) Tina Wenz et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

The 3-methylglutaconic acidurias: what’s new?

(2010) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

(2010) Daniele Marmolino et al.   PLoS One

Effect of heat stress and bezafibrate on mitochondrial β-oxidation: Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay

(2009) Hong Li et al.   BRAIN & DEVELOPMENT

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1

(2009) Scot C. Leary et al.   HUMAN MOLECULAR GENETICS

Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect

(2009) Jean-Paul Bonnefont et al.   NEW ENGLAND JOURNAL OF MEDICINE

PPAR-γ Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich’s Ataxia Therapy

(2008) Daniele Marmolino et al.   CEREBELLUM

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

(2008) Srikanth Ranganathan et al.   HUMAN MOLECULAR GENETICS

Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Components

(2008) Jean Bastin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats

(2008) Guilhian Leipnitz et al.   LIFE SCIENCES