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

Unveiling the last missing link of the cardiolipin synthetic pathway in mitochondria

(2016) Yasushi Tamura et al.   Aging-US

Cardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagy

(2015) Paul Hsu et al.   Autophagy

Cardiolipin and Its Different Properties in Mitophagy and Apoptosis

(2015) Xiao-Xiao Li et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Tafazzins from Drosophila and mammalian cells assemble in large protein complexes with a short half-life

(2015) Yang Xu et al.   MITOCHONDRION

Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes

(2015) Ya-Wen Lu et al.   Frontiers in Genetics

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

(2014) Charleen T Chu et al.   Autophagy

DNAJC19, a Mitochondrial Cochaperone Associated with Cardiomyopathy, Forms a Complex with Prohibitins to Regulate Cardiolipin Remodeling

(2014) Ricarda Richter-Dennerlein et al.   Cell Metabolism

Your Heart on a Chip: iPSC-Based Modeling of Barth-Syndrome-Associated Cardiomyopathy

(2014) Robert Zweigerdt et al.   Cell Stem Cell

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

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

Modeling Inherited Cardiac Disorders

(2014) Karim Sallam et al.   CIRCULATION JOURNAL

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

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

A mitochondrial pathway for biosynthesis of lipid mediators

(2014) Yulia Y. Tyurina et al.   Nature Chemistry

Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection

(2014) Kunil K Raval et al.   NATURE MEDICINE

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

(2014) Gang Wang et al.   NATURE MEDICINE

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

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

Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH1 in Hypoplastic Left Heart Syndrome

(2014) Junko Kobayashi et al.   PLoS One

Cell Cycle Arrest and Cell Survival Induce Reverse Trends of Cardiolipin Remodeling

(2014) Yu-Jen Chao et al.   PLoS One

Metabolism and function of mitochondrial cardiolipin

(2014) Mindong Ren et al.   PROGRESS IN LIPID RESEARCH

Transplanted terminally differentiated induced pluripotent stem cells are accepted by immune mechanisms similar to self-tolerance

(2014) Patricia .E de Almeida et al.   Nature Communications

Barth syndrome

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

Fetal Reprogramming and Senescence in Hypoplastic Left Heart Syndrome and in Human Pluripotent Stem Cells during Cardiac Differentiation

(2013) Naila Gaber et al.   AMERICAN JOURNAL OF PATHOLOGY

Tafazzin knockdown interrupts cell cycle progression in cultured neonatal ventricular fibroblasts

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

After the banquet

(2013) Jianhui Zhu et al.   Autophagy

Barth syndrome: Cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation

(2013) François Gonzalvez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2013) Yasushi Tamura et al.   Cell Metabolism

Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells

(2013) Feng Lan et al.   Cell Stem Cell

Mammalian cardiolipin biosynthesis

(2013) Edgard M. Mejia et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Cardiolipin asymmetry, oxidation and signaling

(2013) Valerian E. Kagan et al.   CHEMISTRY AND PHYSICS OF LIPIDS

The topology and regulation of cardiolipin biosynthesis and remodeling in yeast

(2013) Matthew G. Baile et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Characterization of cardiolipins and their oxidation products by LC–MS analysis

(2013) Yulia Y. Tyurina et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Oxidative Stress and Sarcomeric Proteins

(2013) Susan F. Steinberg   CIRCULATION RESEARCH

The Taz1p Transacylase Is Imported and Sorted into the Outer Mitochondrial Membrane via a Membrane Anchor Domain

(2013) Jenny D. Herndon et al.   EUKARYOTIC CELL

Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes

(2013) Elena Matsa et al.   EUROPEAN HEART JOURNAL

Patient-Specific Stem Cells and Cardiovascular Drug Discovery

(2013) Nicholas M. Mordwinkin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The role of mitochondria in aging

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

Mechanisms and effects of curcumin on spatial learning and memory improvement in APPswe/PS1dE9 mice

(2013) Pengwen Wang et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Deacylation on the matrix side of the mitochondrial inner membrane regulates cardiolipin remodeling

(2013) Matthew G. Baile et al.   MOLECULAR BIOLOGY OF THE CELL

Tafazzin splice variants and mutations in Barth syndrome

(2013) Susan M. Kirwin et al.   MOLECULAR GENETICS AND METABOLISM

Human embryonic stem cells commonly display large mitochondrial DNA deletions

(2013) Lindsey Van Haute et al.   NATURE BIOTECHNOLOGY

Cardiolipin externalization to the outer mitochondrial membrane acts as an elimination signal for mitophagy in neuronal cells

(2013) Charleen T. Chu et al.   NATURE CELL BIOLOGY

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

(2013) Sandra R Bacman et al.   NATURE MEDICINE

Cas9 as a versatile tool for engineering biology

(2013) Prashant Mali et al.   NATURE METHODS

Barth syndrome

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

Recapitulating maladaptive, multiscale remodeling of failing myocardium on a chip

(2013) M. L. McCain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipids of mitochondria

(2013) Susanne E. Horvath et al.   PROGRESS IN LIPID RESEARCH

Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome

(2013) Jan Dudek et al.   Stem Cell Research

Identification of cardiolipin binding sites on cytochrome c oxidase at the entrance of proton channels

(2013) C. Arnarez et al.   Scientific Reports

Stem Cell Therapy for Pediatric Dilated Cardiomyopathy

(2013) Sarah M. Selem et al.   Current Cardiology Reports

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

Cardiolipin remodeling and the function of tafazzin

(2012) Michael Schlame   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Comparison of cardiolipins from Drosophila strains with mutations in putative remodeling enzymes

(2012) Michael Schlame et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia

(2012) A. Hick et al.   Disease Models & Mechanisms

Seven functional classes of Barth syndrome mutation

(2012) Kevin Whited et al.   HUMAN MOLECULAR GENETICS

Loss of Cardiolipin Leads to Perturbation of Mitochondrial and Cellular Iron Homeostasis

(2012) Vinay A. Patil et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis

(2012) Ann Bowron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Modeling of Catecholaminergic Polymorphic Ventricular Tachycardia With Patient-Specific Human-Induced Pluripotent Stem Cells

(2012) Ilanit Itzhaki et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Ablation of ALCAT1 Mitigates Hypertrophic Cardiomyopathy through Effects on Oxidative Stress and Mitophagy

(2012) X. Liu et al.   MOLECULAR AND CELLULAR BIOLOGY

Barth syndrome in a female patient

(2012) Laure Cosson et al.   MOLECULAR GENETICS AND METABOLISM

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

(2012) Diti Ronvelia et al.   MOLECULAR GENETICS AND METABOLISM

Tafazzin senses curvature

(2012) Klaus Gawrisch   Nature Chemical Biology

The physical state of lipid substrates provides transacylation specificity for tafazzin

(2012) Michael Schlame et al.   Nature Chemical Biology

Lipidomics identifies cardiolipin oxidation as a mitochondrial target for redox therapy of brain injury

(2012) Jing Ji et al.   NATURE NEUROSCIENCE

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

Human Trifunctional Protein Alpha Links Cardiolipin Remodeling to Beta-Oxidation

(2012) William A. Taylor et al.   PLoS One

Lysocardiolipin acyltransferase 1 (ALCAT1) controls mitochondrial DNA fidelity and biogenesis through modulation of MFN2 expression

(2012) J. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Muscle on a chip: In vitro contractility assays for smooth and striated muscle

(2012) Anna Grosberg et al.   JOURNAL OF PHARMACOLOGICAL AND TOXICOLOGICAL METHODS

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

Advances in Nuclear Cardiac Instrumentation with a View Towards Reduced Radiation Exposure

(2012) Piotr J. Slomka et al.   Current Cardiology Reports

Mechanisms of mitochondria and autophagy crosstalk

(2011) Angelika S. Rambold et al.   CELL CYCLE

Mitochondrial Phosphatase PTPMT1 Is Essential for Cardiolipin Biosynthesis

(2011) Ji Zhang et al.   Cell Metabolism

The Permeability Transition Pore Controls Cardiac Mitochondrial Maturation and Myocyte Differentiation

(2011) Jennifer R. Hom et al.   DEVELOPMENTAL CELL

Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia

(2011) Christian B. Jung et al.   EMBO Molecular Medicine

Barth syndrome mutations that cause tafazzin complex lability

(2011) Steven M. Claypool et al.   JOURNAL OF CELL BIOLOGY

Protein carbonylation and metal-catalyzed protein oxidation in a cellular perspective

(2011) Ian M. Møller et al.   Journal of Proteomics

Ensembles of engineered cardiac tissues for physiological and pharmacological study: Heart on a chip

(2011) Anna Grosberg et al.   LAB ON A CHIP

Structural and functional analysis of PTPMT1, a phosphatase required for cardiolipin synthesis

(2011) J. Xiao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells

(2011) N. Quarto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The complexity of cardiolipin in health and disease

(2011) Steven M. Claypool et al.   TRENDS IN BIOCHEMICAL SCIENCES

Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes

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

Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells

(2010) Raffaella Lombardi et al.   CURRENT OPINION IN CARDIOLOGY

A mitochondrial phosphatase required for cardiolipin biosynthesis: the PGP phosphatase Gep4

(2010) Christof Osman et al.   EMBO JOURNAL

The sites and topology of mitochondrial superoxide production

(2010) Martin D. Brand   EXPERIMENTAL GERONTOLOGY

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

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

OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation

(2010) Tadato Ban et al.   HUMAN MOLECULAR GENETICS

Comparative Studies of Oxidative Stress and Mitochondrial Function in Aging

(2010) Y. Shi et al.   INTEGRATIVE AND COMPARATIVE BIOLOGY

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

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

Generation of HIV-1 Resistant and Functional Macrophages From Hematopoietic Stem Cell–derived Induced Pluripotent Stem Cells

(2010) Amal Kambal et al.   MOLECULAR THERAPY

Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome

(2010) Alessandra Moretti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

(2010) C. G. Steward et al.   PRENATAL DIAGNOSIS

Control of mitochondrial biogenesis, ROS level, and cytosolic Ca2+ concentration during the cell cycle and the onset of differentiation in L6E9 myoblasts

(2009) Vanessa E. Jahnke et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes

(2009) Douglas M. Sproule et al.   Annals of the New York Academy of Sciences

AMPK and the biochemistry of exercise: implications for human health and disease

(2009) Erik A. Richter et al.   BIOCHEMICAL JOURNAL

Mitochondria-targeted plastoquinone derivatives as tools to interrupt execution of the aging program. 1. Cationic plastoquinone derivatives: Synthesis and in vitro studies

(2009) Y. N. Antonenko et al.   BIOCHEMISTRY-MOSCOW

The role of cardiolipin in the structural organization of mitochondrial membranes

(2009) Michael Schlame 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

Formation of molecular species of mitochondrial cardiolipin. 1. A novel transacylation mechanism to shuttle fatty acids between sn-1 and sn-2 positions of multiple phospholipid species

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

Mitochondrial Cardiolipin Involved in Outer-Membrane Protein Biogenesis: Implications for Barth Syndrome

(2009) Natalia Gebert et al.   CURRENT BIOLOGY

Characterization of Tafazzin Splice Variants from Humans and Fruit Flies

(2009) Yang Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Coassembly of Mgm1 isoforms requires cardiolipin and mediates mitochondrial inner membrane fusion

(2009) Rachel M. DeVay et al.   JOURNAL OF CELL BIOLOGY

PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-Induced Cell Death

(2009) Sonia Gandhi et al.   MOLECULAR CELL

Function and biogenesis of iron–sulphur proteins

(2009) Roland Lill   NATURE

Phenotypic and Functional Characterization of Human Mammary Stem/Progenitor Cells in Long Term Culture

(2009) Devaveena Dey et al.   PLoS One

Electrophoretic Analysis of the Mitochondrial Outer Membrane Rupture Induced by Permeability Transition

(2008) Hans Zischka et al.   ANALYTICAL CHEMISTRY

Cellular functions of cardiolipin in yeast

(2008) Amit S. Joshi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Cardiolipin, the heart of mitochondrial metabolism

(2008) R. H. Houtkooper et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Mitochondrial defects lie at the basis of neutropenia in Barth syndrome

(2008) Bram J van Raam et al.   CURRENT OPINION IN HEMATOLOGY

AMPK: a key regulator of energy balance in the single cell and the whole organism

(2008) D G Hardie   INTERNATIONAL JOURNAL OF OBESITY

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

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

The translocator maintenance protein Tam41 is required for mitochondrial cardiolipin biosynthesis

(2008) Stephan Kutik et al.   JOURNAL OF CELL BIOLOGY

Cardiolipin defines the interactome of the major ADP/ATP carrier protein of the mitochondrial inner membrane

(2008) Steven M. Claypool et al.   JOURNAL OF CELL BIOLOGY

Cardiolipin biosynthesis and remodeling enzymes are altered during development of heart failure

(2008) Harjot K. Saini-Chohan et al.   JOURNAL OF LIPID RESEARCH

Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria

(2008) Devrim Acehan et al.   MITOCHONDRION

Loss of tafazzin in yeast leads to increased oxidative stress during respiratory growth

(2008) Shuliang Chen et al.   MOLECULAR MICROBIOLOGY

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE