Advances in the understanding of Barth syndrome

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

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

(2012) T. Tanaka et al.   BLOOD

Haematological features in Barth syndrome

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

Barth syndrome in a female patient

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

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

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

(2011) Yigal Dror et al.   Annals of the New York Academy of Sciences

Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane

(2011) S. Nanua et al.   BLOOD

The cellular and molecular mechanisms for neutropenia in Barth syndrome

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

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

(2011) Hsiang-Po Huang et al.   HUMAN MOLECULAR GENETICS

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

Highly Efficient Reprogramming to Pluripotency and Directed Differentiation of Human Cells with Synthetic Modified mRNA

(2010) Luigi Warren et al.   Cell Stem Cell

Elevated Cytosolic Na + Increases Mitochondrial Formation of Reactive Oxygen Species in Failing Cardiac Myocytes

(2010) Michael Kohlhaas et al.   CIRCULATION

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

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

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

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

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

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

(2009) Riekelt H. Houtkooper et al.   ANALYTICAL BIOCHEMISTRY

Cardiolipin, a critical determinant of mitochondrial carrier protein assembly and function

(2009) Steven M. Claypool   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 Creatine Kinase Binding to Phospholipid Monolayers Induces Cardiolipin Segregation

(2009) Ofelia Maniti et al.   BIOPHYSICAL JOURNAL

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

Heterogeneity of Mitochondrial Potential as a Marker for Isolation of Pure Cardiomyoblast Population

(2009) T. G. Khryapenkova et al.   BULLETIN OF EXPERIMENTAL BIOLOGY AND MEDICINE

Dysmorphology of Barth syndrome

(2009) Rob Hastings et al.   CLINICAL DYSMORPHOLOGY

Genetic Insights into Congenital Neutropenia

(2009) Christoph Klein et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

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

(2009) Natalia Gebert et al.   CURRENT BIOLOGY

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

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

Cardiolipin as an oxidative target in cardiac mitochondria in the aged rat

(2008) Edward J. Lesnefsky et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

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 and electron transport chain abnormalities in mouse brain tumor mitochondria: lipidomic evidence supporting the Warburg theory of cancer

(2008) Michael A. Kiebish et al.   JOURNAL OF LIPID RESEARCH

Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria

(2008) Devrim Acehan et al.   MITOCHONDRION

Cardiolipin Mediates Cross-Talk between Mitochondria and the Vacuole

(2008) Shuliang Chen et al.   MOLECULAR BIOLOGY OF THE CELL

Mitochondrial Membrane Potential in Human Neutrophils Is Maintained by Complex III Activity in the Absence of Supercomplex Organisation

(2008) Bram J. van Raam et al.   PLoS One

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

(2007) W. Kulik et al.   CLINICAL CHEMISTRY

A skewed view of X chromosome inactivation

(2007) Jakub Minks et al.   JOURNAL OF CLINICAL INVESTIGATION