AAV Gene Therapy Prevents and Reverses Heart Failure in a Murine Knockout Model of Barth Syndrome

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

(2019) Brittany Hornby et al.   Orphanet Journal of Rare Diseases

Extramitochondrial cardiolipin suggests a novel function of mitochondria in spermatogenesis

(2019) Mindong Ren et al.   JOURNAL OF CELL BIOLOGY

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

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

Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor

(2018) Yuxuan Guo et al.   Nature Communications

Calcium upregulation by percutaneous administration of gene therapy in patients with cardiac disease (CUPID 2): a randomised, multinational, double-blind, placebo-controlled, phase 2b trial

(2016) Barry Greenberg et al.   LANCET

Loss of protein association causes cardiolipin degradation in Barth syndrome

(2016) Yang Xu et al.   Nature Chemical Biology

Tetracyclines Disturb Mitochondrial Function across Eukaryotic Models: A Call for Caution in Biomedical Research

(2015) Norman Moullan et al.   Cell Reports

Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis

(2015) Laurence C. Cadalbert et al.   PLoS One

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

(2014) Gang Wang et al.   NATURE MEDICINE

Mammalian cardiolipin biosynthesis

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

AAV Genome Loss From Dystrophic Mouse Muscles During AAV-U7 snRNA-mediated Exon-skipping Therapy

(2013) Maëva Le Hir et al.   MOLECULAR THERAPY

Barth syndrome

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

Diminished Exercise Capacity and Mitochondrial bc1 Complex Deficiency in Tafazzin-Knockdown Mice

(2013) Corey Powers et al.   Frontiers in Physiology

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

Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping

(2012) Adeline Vulin et al.   MOLECULAR THERAPY

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

Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome

(2011) Carolyn T. Spencer et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

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

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

Reengineering a receptor footprint of adeno-associated virus enables selective and systemic gene transfer to muscle

(2009) Aravind Asokan et al.   NATURE BIOTECHNOLOGY

Interpreting Neonatal Lethal Phenotypes in Mouse Mutants: Insights Into Gene Function and Human Diseases

(2009) Benjamin Turgeon et al.   PHYSIOLOGICAL REVIEWS

Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometric Analysis of Cellular Glycerophospholipids Enabled by Multiplexed Solvent Dependent Analyte−Matrix Interactions

(2008) Gang Sun et al.   ANALYTICAL CHEMISTRY

Self-complementary AAV Vectors; Advances and Applications

(2008) Douglas M McCarty   MOLECULAR THERAPY

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

(2007) W. Kulik et al.   CLINICAL CHEMISTRY