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

Promotion of plasmalogen biosynthesis reverse lipid changes in a Barth Syndrome cell model

(2020) José Carlos Bozelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

A review on the potential of Resveratrol in prevention and therapy of diabetes and diabetic complications

(2020) Dan-Dan Huang et al.   BIOMEDICINE & PHARMACOTHERAPY

The mitochondria-targeted peptide SS-31 binds lipid bilayers and modulates surface electrostatics as a key component of its mechanism of action

(2020) Wayne Mitchell et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cardiolipin-deficient cells have decreased levels of the iron-sulfur biogenesis protein frataxin

(2020) Yiran Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria

(2020) Catherine H Le et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cardiolipin deficiency elevates susceptibility to a lipotoxic hypertrophic cardiomyopathy

(2020) Laura K. Cole et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter

(2020) Sagnika Ghosh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome

(2020) Patrice X. Petit et al.   Cells

Cardiolipin deficiency in Barth syndrome is not associated with increased superoxide/H 2 O 2 production in heart and skeletal muscle mitochondria

(2020) Renata L. S. Goncalves et al.   FEBS LETTERS

Impact of Endurance and Resistance Training on Skeletal Muscle Glucose Metabolism in Older Adults

(2019) Leslie A. Consitt et al.   Nutrients

Mitochondrial membrane potential

(2018) Ljubava D. Zorova et al.   ANALYTICAL BIOCHEMISTRY

Phosphokinome Analysis of Barth Syndrome Lymphoblasts Identify Novel Targets in the Pathophysiology of the Disease

(2018) Prasoon Agarwal et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Expression of human monolysocardiolipin acyltransferase-1 improves mitochondrial function in Barth syndrome lymphoblasts

(2018) Edgard M. Mejia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ethanolamine ameliorates mitochondrial dysfunction in cardiolipin-deficient yeast cells

(2018) Writoban Basu Ball et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2018) Caitlin Schafer et al.   Frontiers in Pharmacology

Aberrant cardiolipin metabolism is associated with cognitive deficiency and hippocampal alteration in tafazzin knockdown mice

(2018) Laura K. Cole et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The role of mitochondrial cardiolipin in heart function and its implication in cardiac disease

(2018) Jan Dudek et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome

(2018) Silveli Suzuki-Hatano et al.   HUMAN GENE THERAPY

Modernized Classification of Cardiac Antiarrhythmic Drugs

(2018) Ming Lei et al.   CIRCULATION

Neutropenia in Barth syndrome

(2018) Colin G. Steward et al.   CURRENT OPINION IN HEMATOLOGY

SIRT-3 Modulation by Resveratrol Improves Mitochondrial Oxidative Phosphorylation in Diabetic Heart through Deacetylation of TFAM

(2018) Pankaj Bagul et al.   Cells

Key proteins and pathways that regulate lifespan

(2017) Haihui Pan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis

(2017) Leanne Woiewodski et al.   JOURNAL OF PEDIATRICS

Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy

(2017) Nikita Ikon et al.   LIPIDS

Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts

(2017) Edgard M. Mejia et al.   LIPIDS

AMPK: guardian of metabolism and mitochondrial homeostasis

(2017) Sébastien Herzig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

Cardiac mitochondrial energy metabolism in heart failure: Role of cardiolipin and sirtuins

(2016) Vernon W. Dolinsky et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Impaired Cardiolipin Biosynthesis Prevents Hepatic Steatosis and Diet-Induced Obesity

(2016) Laura K. Cole et al.   DIABETES

New targets for monitoring and therapy in Barth syndrome

(2016) W. Reid Thompson et al.   GENETICS IN MEDICINE

On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism

(2016) Nikita Ikon et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies

(2016) Ana Saric et al.   Frontiers in Genetics

Exogenous cardiolipin localizes to mitochondria and prevents TAZ knockdown-induced apoptosis in myeloid progenitor cells

(2015) Nikita Ikon et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome

(2015) Gerard J. Gaspard et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Mitochondrial phospholipids: role in mitochondrial function

(2015) Edgard M. Mejia et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome

(2015) Meghan S. Soustek et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Properties of Resveratrol:In VitroandIn VivoStudies about Metabolism, Bioavailability, and Biological Effects in Animal Models and Humans

(2015) J. Gambini et al.   Oxidative Medicine and Cellular Longevity

Assessing mitochondrial dysfunction in cells

(2015) M. D. Brand et al.   BIOCHEMICAL JOURNAL

Cardiac Metabolic Pathways Affected in the Mouse Model of Barth Syndrome

(2015) Yan Huang et al.   PLoS One

LC3 binds externalized cardiolipin on injured mitochondria to signal mitophagy in neurons

(2014) Charleen T Chu et al.   Autophagy

Interplay of Packing and Flip-flop in Local Bilayer Deformation. How Phosphatidylglycerol Could Rescue Mitochondrial Function in a Cardiolipin-deficient Yeast Mutant

(2014) Nada Khalifat et al.   BIOPHYSICAL JOURNAL

The functions of cardiolipin in cellular metabolism–potential modifiers of the Barth syndrome phenotype

(2014) Vaishnavi Raja et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Serendipity and the Discovery of Novel Compounds That Restore Mitochondrial Plasticity

(2014) H H Szeto et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Cardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and function

(2014) Cunqi Ye et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

(2014) Gang Wang et al.   NATURE MEDICINE

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

(2014) Bogna Grygiel-Górniak   Nutrition Journal

Mitochondria-Targeted Antioxidant Prevents Cardiac Dysfunction Induced by Tafazzin Gene Knockdown in Cardiac Myocytes

(2014) Quan He et al.   Oxidative Medicine and Cellular Longevity

Barth syndrome

(2013) John L. Jefferies   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Tafazzin knockdown interrupts cell cycle progression in cultured neonatal ventricular fibroblasts

(2013) Quan He et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Lipid Replacement Therapy: A natural medicine approach to replacing damaged lipids in cellular membranes and organelles and restoring function

(2013) Garth L. Nicolson et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Advances in the understanding of Barth syndrome

(2013) Andranik A. Aprikyan et al.   BRITISH JOURNAL OF HAEMATOLOGY

First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics

(2013) Hazel H Szeto   BRITISH JOURNAL OF PHARMACOLOGY

Targeting mitochondrial cardiolipin and the cytochromec/cardiolipin complex to promote electron transport and optimize mitochondrial ATP synthesis

(2013) A V Birk et al.   BRITISH JOURNAL OF PHARMACOLOGY

Tam41 Is a CDP-Diacylglycerol Synthase Required for Cardiolipin Biosynthesis in Mitochondria

(2013) Yasushi Tamura et al.   Cell Metabolism

Global Proteomics and Pathway Analysis of Pressure-Overload–Induced Heart Failure and Its Attenuation by Mitochondrial-Targeted Peptides

(2013) Dao-Fu Dai et al.   Circulation-Heart Failure

Reduction of Early Reperfusion Injury With the Mitochondria-Targeting Peptide Bendavia

(2013) David A. Brown et al.   JOURNAL OF CARDIOVASCULAR PHARMACOLOGY AND THERAPEUTICS

Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome

(2013) Michael A. Kiebish et al.   JOURNAL OF LIPID RESEARCH

The Mitochondrial-Targeted Compound SS-31 Re-Energizes Ischemic Mitochondria by Interacting with Cardiolipin

(2013) A. V. Birk et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Natural history of Barth syndrome: a national cohort study of 22 patients

(2013) Charlotte Rigaud et al.   Orphanet Journal of Rare Diseases

Barth syndrome

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

Assessing Phospholipase A2 Activity toward Cardiolipin by Mass Spectrometry

(2013) Yuan-Hao Hsu et al.   PLoS One

Exercise training in chronic heart failure

(2013) Catherine De Maeyer et al.   Therapeutic Advances in Chronic Disease

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

(2012) Amy E. Roberts et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Oxygen Consumption and Usage During Physical Exercise: The Balance Between Oxidative Stress and ROS-Dependent Adaptive Signaling

(2012) Zsolt Radak et al.   ANTIOXIDANTS & REDOX SIGNALING

Reactive oxygen species (ROS) homeostasis and redox regulation in cellular signaling

(2012) Paul D. Ray et al.   CELLULAR SIGNALLING

Update on lipids and mitochondrial function

(2012) William C. Stanley et al.   CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE

Haematological features in Barth syndrome

(2012) Josef Finsterer et al.   CURRENT OPINION IN HEMATOLOGY

Emergence and Nature of Mathematical Difficulties in Young Children with Barth Syndrome

(2012) Darcy Raches et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome

(2012) W. Todd Cade et al.   JOURNAL OF INHERITED METABOLIC DISEASE

No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome

(2012) Jean-Baptiste Roullet et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intracoronary cardiosphere-derived cells for heart regeneration after myocardial infarction (CADUCEUS): a prospective, randomised phase 1 trial

(2012) Raj R Makkar et al.   LANCET

Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation

(2012) Samuel P. Hanke et al.   PEDIATRIC CARDIOLOGY

Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome

(2012) Nathalie Dedieu et al.   PEDIATRIC TRANSPLANTATION

Tafazzin Knockdown in Mice Leads to a Developmental Cardiomyopathy With Early Diastolic Dysfunction Preceding Myocardial Noncompaction

(2012) Colin K. L. Phoon et al.   Journal of the American Heart Association

A double-blind, randomized, controlled, multicenter study to assess the safety and cardiovascular effects of skeletal myoblast implantation by catheter delivery in patients with chronic heart failure after myocardial infarction

(2011) Thomas J. Povsic et al.   AMERICAN HEART JOURNAL

Resveratrol increases the expression and activity of the low density lipoprotein receptor in hepatocytes by the proteolytic activation of the sterol regulatory element-binding proteins

(2011) Takuya Yashiro et al.   ATHEROSCLEROSIS

Inactivity-induced diaphragm dysfunction and mitochondria-targeted antioxidants: New concepts in critical care medicine*

(2011) Sanford Levine et al.   CRITICAL CARE MEDICINE

The cellular and molecular mechanisms for neutropenia in Barth syndrome

(2011) Vahagn Makaryan et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Reactive oxygen species in cardiovascular disease

(2011) Koichi Sugamura et al.   FREE RADICAL BIOLOGY AND MEDICINE

Making heads or tails of phospholipids in mitochondria

(2011) Christof Osman et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial Targeted Antioxidant Peptide Ameliorates Hypertensive Cardiomyopathy

(2011) Dao-Fu Dai et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Novel Therapies Targeting Inner Mitochondrial Membrane—From Discovery to Clinical Development

(2011) Hazel H. Szeto et al.   PHARMACEUTICAL RESEARCH

Cardiolipin microdomains localize to negatively curved regions of Escherichia coli membranes

(2011) L. D. Renner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes

(2010) Quan He   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndromeThis paper is one of a selection of papers published in this special issue entitled “Second International Symposium on Recent Advances in Basic, Clinical, and Social Medicine” and has undergone the Journal's usual peer review process.

(2010) Kristin D. Hauff et al.   Biochemistry and Cell Biology

Cardiac mitochondria and arrhythmias

(2010) D. A. Brown et al.   CARDIOVASCULAR RESEARCH

Cardiolipin Remodeling by ALCAT1 Links Oxidative Stress and Mitochondrial Dysfunction to Obesity

(2010) Jia Li et al.   Cell Metabolism

Mitochondria: An Emerging Target for Therapeutics

(2010) S P Hersh   CLINICAL PHARMACOLOGY & THERAPEUTICS

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

Mechanical bridging to orthotopic heart transplantation in children weighing less than 10kg: feasibility and limitations

(2010) Ann Karimova et al.   EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY

Characterization of a Transgenic Short Hairpin RNA-Induced Murine Model of Tafazzin Deficiency

(2010) Meghan S. Soustek et al.   HUMAN GENE THERAPY

Barth Syndrome: An X-linked Cardiomyopathy with a Novel Mutation

(2010) Emtethal Aljishi et al.   INDIAN JOURNAL OF PEDIATRICS

Induction of Manganese Superoxide Dismutase by Nuclear Translocation and Activation of SIRT1 Promotes Cell Survival in Chronic Heart Failure

(2010) Masaya Tanno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome

(2010) Devrim Acehan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The 3-methylglutaconic acidurias: what’s new?

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

Allicin protects against cardiac hypertrophy and fibrosis via attenuating reactive oxygen species-dependent signaling pathways

(2010) Chen Liu et al.   JOURNAL OF NUTRITIONAL BIOCHEMISTRY

A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

(2009) Harinder R. Singh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The physicochemical properties of cardiolipin bilayers and cardiolipin-containing lipid membranes

(2009) Ruthven N.A.H. Lewis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The enigmatic role of tafazzin in cardiolipin metabolism

(2009) Riekelt H. Houtkooper et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Lipotoxicity in the heart

(2009) Adam R. Wende et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mitochondrial dysfunction and lipotoxicity

(2009) Patrick Schrauwen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome

(2009) Theodora Bachou et al.   BLOOD CELLS MOLECULES AND DISEASES

Cardiolipin synthesis is required to support human cholesterol biosynthesis from palmitate upon serum removal in Hela cellsThis article is one of a selection of papers published in a special issue celebrating the 125th anniversary of the Faculty of Medicine at the University of Manitoba.

(2009) Kristin D. Hauff et al.   CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY

Glycerol-3-Phosphate Acyltransferases Gat1p and Gat2p Are Microsomal Phosphoproteins with Differential Contributions to Polarized Cell Growth

(2009) Martin W. Bratschi et al.   EUKARYOTIC CELL

Mitochondria and reactive oxygen species

(2009) Alicia J. Kowaltowski et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mitochondria and Reactive Oxygen Species

(2009) Francesco Addabbo et al.   HYPERTENSION

Identification of the Human Mitochondrial Linoleoyl-coenzyme A Monolysocardiolipin Acyltransferase (MLCL AT-1)

(2009) William A. Taylor et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Changing Patterns of Bridging to Heart Transplantation in Children

(2009) Jane Cassidy et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Shotgun Lipidomics Reveals the Temporally Dependent, Highly Diversified Cardiolipin Profile in the Mammalian Brain: Temporally Coordinated Postnatal Diversification of Cardiolipin Molecular Species with Neuronal Remodeling†

(2008) Hua Cheng et al.   BIOCHEMISTRY

Role of reactive oxygen species in the pathogenesis of diabetic nephropathy

(2008) Hunjoo Ha et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

Cardiolipin provides an essential activating platform for caspase-8 on mitochondria

(2008) Francois Gonzalvez et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial dysfunction in rat brain with agingInvolvement of complex I, reactive oxygen species and cardiolipin

(2008) G PETROSILLO et al.   NEUROCHEMISTRY INTERNATIONAL

Effect of Cyclosporine on Reperfusion Injury in Acute Myocardial Infarction

(2008) Christophe Piot et al.   NEW ENGLAND JOURNAL OF MEDICINE

Immunosuppressive therapy mitigates immunological rejection of human embryonic stem cell xenografts

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

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome

(2007) W. Kulik et al.   CLINICAL CHEMISTRY