Grants Awarded

As of 2009, the Barth Syndrome Foundation has committed over $1.7 million through 47 separate grant awards to 29 investigators worldwide. To date, there are a total of 48 distinct publications acknowledging financial support contributed by BSF and/or BSF affiliates.

	2009 Grant Cycle
	Zaza Khuchua, PhD Research Associate Professor Children´s Hospital Medical Center Cincinnati, OH “The shRNA-mediated tafazzin knockdown mouse model for Barth syndrome” Award — US $39,998 over 2-year period
	Michael A. Kiebish, PhD Postdoctoral Research Associate Washington University School of Medicine St. Louis, MO “Does cardiolipin synthase upregulation alleviate cardiolipin abnormalities and bioenergetic dysfunction in Barth syndrome?” Award — US $40,000 over 2-year period
	Miriam Greenberg, PhD Professor and Associate Dean Wayne State University Detroit, MI “Perturbation of mitophagy in cardiolipin mutants” Award — US $40,000 over 1-year period *Funding for this award was provided by the Barth Syndrome Trust (UK & Europe)
	Yang Xu, PhD, MD Instructor New York University School of Medicine New York, NY “Expression levels, localization, and function of tafazzin isoforms” Award — US $38,370 over 1-year period
	W. Todd Cade, PT, PhD Assistant Professor Washington University School of Medicine St. Louis, MO “Safety and efficacy of aerobic exercise training in Barth syndrome: a pilot study” Award — US $39,600 over 2-year period
	Grant Hatch, PhD Professor University of Manitoba Winnipeg, Manitoba, Canada “Role of human monolysocardiolipin acyltransferase in Barth syndrome” Award — US $40,000 over 1-year period *Funding for this award was provided by the Barth Syndrome Foundation of Canada
	William Pu, MD Associate Professor Children´s Hospital of Boston Boston, MA “Analysis of metabolic abnormalities in TAZ-deficient cardiomyocytes” Award — US $40,000 over 1-year period
Back to top	2008 Grant Cycle
	W. Todd Cade, PT, PhD Assistant Professor Washington University School of Medicine St. Louis, MO "Characterization of nutrient metabolism in Barth syndrome" Award — US $39,998 over 1-year period Research currently underway
	Miriam L. Greenberg, PhD Professor and Associate Dean Wayne State University Detroit, MI "The role of tafazzin in mitochondrial protein import—Implications for Barth syndrome " Award — US $40,000 over 1-year period *Funding for this award was provided by the Barth Syndrome Foundation, Inc. and the Barth Syndrome Foundation of Canada Associated Publications To Date: Chen S, Liu D, Finley RL Jr, Greenberg ML.  Loss of mitochondrial DNA in the yeast cardiolipin synthase crd1 mutant leads to up-regulation of the protein kinase Swe1p that regulates the G2/M transition.  J Biol Chem. 2010 Jan 19. [Epub ahead of print]  (PubMed Abstract) Gebert N, Joshi AS, Kutik S, Becker T, McKenzie M, Guan XL, Mooga VP, Stroud DA, Kulkarni G, Wenk MR, Rehling P, Meisinger C, Ryan MT, Wiedemann N, Greenberg ML, Pfanner N.  Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome.  Curr Biol. 2009 Dec 29;19(24):2133-9. Epub 2009 Dec 3.  (PubMed Abstract)
	Genevieve Sparagna, PhD University of Colorado at Boulder Boulder, CO "Fatty acid combinational therapy for Barth syndrome investigated using a rat model of heart failure" Award — US $40,000 over 2-year period Research currently underway
	Ashim Malhotra, PhD Postdoctoral Fellow New York University School of Medicine New York, New York “Distribution of tafazzin and cardiolipin in mitochondrial protein complex assemblies” Award — US $23,980 over 1-year period Research currently underway
Back to top	2007 Grant Cycle
	Miriam Greenberg, PhD Professor and Associate Dean Wayne State University Detroit, MI "Perturbation of the osmotic stress response in cardiolipin deficient mutants" Award — US $40,000 over 1-year period Associated Publications To Date: Zhou J, Zhong Q, Li G, Greenberg ML.  Loss of cardiolipin leads to longevity defects that are alleviated by alterations in stress response signaling.  J Biol Chem. 2009 Jul 3;284(27):18106-14. Epub 2009 Apr 28.  (PubMed Abstract) Chen S, Tarsio M, Kane PM, Greenberg ML. Cardiolipin mediates cross-talk between mitochondria and the vacuole.  Mol Biol Cell. 2008 Dec;19(12):5047-58. Epub 2008 Sep 17.  (PubMed Abstract) Joshi AS, Zhou J, Gohil VM, Chen S, Greenberg ML. Cellular functions of cardiolipin in yeast.  Biochim Biophys Acta. 2009 Jan;1793(1):212-8. Epub 2008 Aug 7.  (PubMed Abstract)
	Carol P. Moreno-Quinn, MD, PhD Assistant Professor Medical College of Wisconsin Milwaukee, WI "Creation of a rat model of Barth syndrome" Award — US $40,000 over 1-year period Research currently underway
	Quan He, PhD Research Scientist Henry Ford Hospital Detroit, MI "Are reactive oxygen species involved in the development of dilated cardiomyopathy in Barth syndrome?" Award — US $39,996 over 2-year period Associated Publications To Date: He Q.  Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes.  Am J Physiol Heart Circ Physiol (March 26, 2010).
	Matthew R. G. Taylor, MD, PhD Associate Professor and Director of Adult Clinical Genetics University of Colorado at Denver and Health Sciences Center Aurora, CO "Prevalence of Barth syndrome in adult cardiomyopathies" Award — US $33,701 over 1-year period Research currently underway
	David Dale, MD Professor of Medicine University of Washington Seattle, WA "Neutropenia in Barth syndrome" Award — US $40,000 over 1-year period Associated Presentations To Date: Makaryan V, Dror Y, Aprikyan A.  Loss of Tafazzin (TAZ) Function and Accelerated Apoptosis of Human Bone Marrow Stem and Myeloid Progenitors in Barth Syndrome.  Poster at the 51st American Society of Hematology Annual Meeting & Exposition. December 2009. Makaryan V, Dale DC, Aprikyan A.  Knock-down of TAZ gene expression: a model of Barth syndrome with accelerated apoptosis of myeloid progenitor cells improved upon treatment with caspase-specific inhibitor.  Poster at the 2008 American Society of Hematology Annual Meeting.
	Taco Kuijpers, MD, PhD Professor University of Amsterdam Amsterdam, The Netherlands "Neutropenia in Barth syndrome: new in vitro models to study BTHS neutrophils" Award — US $40,000 over 1-year period *Funding for this award was provided by the Barth Syndrome Trust (UK & Europe) Research currently underway
	Richard Epand, PhD Professor McMaster University Hamilton, ON, Canada "Consequences of the alteration of cardiolipin structure on the properties of the mitochondrial membranes" Award — US $38,900 over 1-year period *Funding for this award was provided by the Barth Syndrome Foundation of Canada Associated Publications To Date: Schlattner U, Tokarska-Schlattner M, Ramirez S, Brückner A, Kay L, Polge C, Epand RF, Lee RM, Lacombe ML, Epand RM.  Mitochondrial kinases and their molecular interaction with cardiolipin.  Biochim Biophys Acta. 2009 Oct;1788(10):2032-47. Epub 2009 May 4. Review.  (PubMed Abstract)
	Susan Kirwin Senior Research Associate, Assistant Director Nemours Children´s Clinic Alfred I. duPont Hospital for Children Wilmington, DE "Barth syndrome testing: Are we missing some patients?" Award — US $24,145 over 1-year period Research currently underway
	Christopher R. McMaster, PhD Professor Dalhousie University Halifax, Nova Scotia Canada "Synthetic genetics towards understanding Barth syndrome cell biology" Award — US $36,712 over 1-year period *Funding for this award was provided by the Barth Syndrome Foundation, Inc. and the Barth Syndrome Foundation of Canada Research currently underway
Back to top	2006 Grant Cycle
	Mindong Ren, PhD Assistant Professor New York University New York, NY "Pathogenetic mechanism and genetic suppressors of Barth syndrome" Award — US $40,000 over 1-year period Associated Publications To Date: Xu Y, Zhang S, Malhotra A, Edelman-Novemsky I, Ma J, Kruppa A, Cernicica C, Blais S, Neubert TA, Ren M, Schlame M.  Characterization of tafazzin splice variants from humans and fruit flies.  J Biol Chem. 2009 Oct 16;284(42):29230-9. Epub 2009 Aug 21.  (PubMed Abstract) Schlame M, Ren M.  The role of cardiolipin in the structural organization of mitochondrial membranes.  Biochim Biophys Acta. 2009 Oct;1788(10):2080-3. Epub 2009 May 4. Review.  (PubMed Abstract) Malhotra A, Xu Y, Ren M, Schlame M.  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.  Biochim Biophys Acta. 2009 Apr;1791(4):314-20. Epub 2009 Jan 21. (PubMed Abstract) Malhotra A, Edelman-Novemsky I, Xu Y, Plesken H, Ma J, Schlame M, Ren M.  Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome.  Proc Natl Acad Sci U S A. 2009 Feb 17;106(7):2337-41. Epub 2009 Jan 21.  (PubMed Abstract) Acehan D, Khuchua Z, Houtkooper RH, Malhotra A, Kaufman J, Vaz FM, Ren M, Rockman HA, Stokes DL, Schlame M.  Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.  Mitochondrion. 2009 Apr;9(2):86-95. Epub 2008 Dec 11.  (PubMed Abstract)
	Miriam Greenberg, PhD Professor and Associate Dean Wayne State University Detroit, MI "The role of phosphatidylglycerol in activating Protein Kinase C mediated signaling" Award — US $40,000 over 1-year period Associated Publications To Date: Zhong Q, Li G, Gvozdenovic-Jeremic J, Greenberg ML.  Up-regulation of the cell integrity pathway in saccharomyces cerevisiae suppresses temperature sensitivity of the pgs1Delta mutant.  J Biol Chem. 2007 Jun 1;282(22):15946-53. Epub 2007 Apr 9.  (PubMed Abstract)
	Genevieve Sparagna, PhD Faculty Research Associate University of Colorado Boulder, CO "Regulation of cardiolipin remodeling in the heart studied using a rat model of heart failure" Award — US $40,000 over 2-year period Associated Publications To Date: Zachman DK, Chicco AJ, McCune SA, Murphy RC, Moore RL, Sparagna GC.  The role of calcium-independent phospholipase A2 in cardiolipin remodeling in the spontaneously hypertensive heart failure rat heart.  J Lipid Res. 2009 Sep 9. [Epub ahead of print]  (PubMed Abstract) Sparagna GC, Lesnefsky EJ.  Cardiolipin Remodeling in the Heart.  J Cardiovasc Pharmacol. 2009 Apr;53(4):290-301. Review.  (PubMed Abstract) Saini-Chohan HK, Holmes MG, Chicco AJ, Taylor WA, Moore RL, McCune SA, Hickson-Bick DL, Hatch GM, Sparagna GC. Cardiolipin biosynthesis and remodeling enzymes are altered during the development of heart failure.  J Lipid Res. 2009 Aug;50(8):1600-8. Epub 2008 Nov 10.  (PubMed Abstract)
	Michele M. M. Mazzocco, PhD Associate Professor Johns Hopkins School of Medicine Baltimore, MD "Early indices of learning difficulties in young boys with Barth syndrome" Award — US $40,000 over 1.5-year period Associated Publications To Date: Mazzocco MM, Henry AE, Kelly RI.  Barth syndrome is associated with a cognitive phenotype.  J Dev Behav Pediatr. 2007 Feb;28(1):22-30.  (PubMed Abstract)
	Carolyn Spencer, MD Assistant Professor University of Florida Gainesville, FL "Cardiac and skeletal muscle in Barth syndrome: Evaluation of functional capacity and energy metabolism" Award — US $39,600 over 2-year period Associated Presentations To Date: Day JA, Senesac CR, Lowe J, Spencer CT.  Quantification of motor performance in boys with Barth syndrome.  Poster at the 2008 Annual Conference and Exposition of the American Physical Therapy Association, San Antonio, TX, June 12, 2008. Spencer CT, Bryant R, Byrne B, Margossian R, Heal ME, Cade WT.  Exercise intolerance in Barth syndrome.  Poster at the 2007 American Heart Association Meeting. Day JA, Spencer CT, Byrne B.  Grip strength in a population of boys with Barth syndrome.  Poster at the APTA Meeting, San Diego, CA. February 2006.
	Willem Kulik, PhD Head Mass Spectrometry/Metabolomics University of Amsterdam Amsterdam, The Netherlands "Development of BTHS screening using bloodspots and HPLC tandem mass spectrometry" Award — US $30,000 over 1-year period *Funding for this award was provided by the Barth Syndrome Trust (UK & Europe) Associated Publications To Date: Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Pérez-Cerdá C, Morrone A, Malvagia S, Wanders RJ, Kulik W, Vaz FM.  The enigmatic role of tafazzin in cardiolipin metabolism.  Biochim Biophys Acta. 2009 Oct;1788(10):2003-14. Epub 2009 Jul 18. Review.  (PubMed Abstract) Houtkooper RH, Rodenburg RJ, Thiels C, van Lenthe H, Stet F, Poll-The BT, Stone JE,  Steward CG, Wanders RJ, Smeitink J, Kulik W, Vaz FM. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes and tissues using HPLC-mass spectrometry as a diagnostic test for Barth syndrome.  Anal Biochem. 2009 Apr 15;387(2):230-7. Epub 2009 Jan 31.  (PubMed Abstract) Kulik W, van Lenthe H, Stet FS, Houtkooper RH, Kemp H, Stone JE, Steward CG, Wanders RJ, Vaz FM.  Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome.  Clin Chem. 2008 Feb;54(2):371-8. Epub 2007 Dec 10.  (PubMed Abstract)
	Frédéric M. Vaz, PhD Departments of Pediatrics & Clinical Chemistry University of Amsterdam Amsterdam, The Netherlands "Identification of the proteins interacting with tafazzin and resolution of the consequences of the deficiency of cardiolipin at the protein level" Award — US $40,000 over 1-year period *Funding for this award was provided by The Barth Syndrome Foundation, Inc. and the Barth Syndrome Trust (UK & Europe) Associated Publications To Date: Rijken PJ.  Phosphatidylcholine-protein interactions and remodeling of cardiolipin in yeast mitochondria.  Doctoral Thesis, Scheikunde Proefschriften, 2010. (Abstract) Xu FY, McBride H, Acehan D, Vaz FM, Houtkooper RH, Lee RM, Mowat MA, Hatch GM.  The dynamics of cardiolipin synthesis post mitochondrial fusion.  Biochim Biophys Acta. 2010 Apr 28. [Epub ahead of print]  (PubMed Abstract) Rijken PJ, Houtkooper RH, Akbari H, Brouwers JF, Koorengevel MC, de Kruijff B, Frentzen M, Vaz FM, de Kroon AI.  Cardiolipin molecular species with shorter acyl chains accumulate in S. cerevisiae mutants lacking the acyl-Coenzyme A-binding protein Acb1p. New insights into acyl chain remodeling of cardiolipin.  J Biol Chem. 2009 Oct 2;284(40):27609-19. Epub 2009 Aug 5.  (PubMed Abstract) Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Pérez-Cerdá C, Morrone A, Malvagia S, Wanders RJ, Kulik W, Vaz FM.  The enigmatic role of tafazzin in cardiolipin metabolism.  Biochim Biophys Acta. 2009 Oct;1788(10):2003-14. Epub 2009 Jul 18. Review.  (PubMed Abstract) Houtkooper RH, Rodenburg RJ, Thiels C, van Lenthe H, Stet F, Poll-The BT, Stone JE,  Steward CG, Wanders RJ, Smeitink J, Kulik W, Vaz FM.  Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes and tissues using HPLC-mass spectrometry as a diagnostic test for Barth syndrome.  Anal Biochem. 2009 Apr 15;387(2):230-7. Epub 2009 Jan 31. (PubMed Abstract) Acehan D, Khuchua Z, Houtkooper RH, Malhotra A, Kaufman J, Vaz FM, Ren M, Rockman HA, Stokes DL, Schlame M.  Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.  Mitochondrion. 2009 Apr;9(2):86-95. Epub 2008 Dec 11.  (PubMed Abstract) Gonzalvez F, Schug ZT, Houtkooper RH, Mackenzie ED, Brooks DG, Wanders RJ, Petit PX, Vaz FM, Gottlieb E.  Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.  J Cell Biol. 2008 Nov 17;183(4):681-96. Epub 2008 Nov 10.  (PubMed Abstract)
	Toshihide Kobayashi, PhD Chief Scientist Director of Lipid Biology Laboratory RIKEN Wako, Saitama, Japan "Organization of cardiolipin in Barth syndrome" Award — US $39,600 over two-year period Associated Presentations To Date: Takahashi H, Hayakawa T, Iwamoto K, Ito K, Takata M, Kobayashi T.  Effects of 10N-nonyl Acridine Orange in Altering Cardiolipin Polymorphism: Implications for Barth Syndrome.  JSPS-SNCF Int. Seminar on Membranomics (MSB6) Sept. 1-3, 2008.
Back to top	2005 Grant Cycle
	Miriam L. Greenberg, PhD Professor, Biological Sciences Associate Dean for Research Wayne State University Detroit, MI "Does Copper Deficiency Play a Role in Barth Syndrome?" Award — US $40,000 over 1-year period Associated Publications To Date: Li G, Chen S, Thompson MN, Greenberg ML.  New insights into the regulation of cardiolipin biosynthesis in yeast: Implications for Barth syndrome.  Biochim Biophys Acta. 2007 Mar;1771(3):432-41. Epub 2006 Jul 8. Review.  (PubMed Abstract)
	Thomas H. Haines, PhD Professor, Chemistry and Biochemistry City College of the City University of New York New York, NY "A Role for Cardiolipin in Barth Syndrome" Award — US $40,000 over 1-year period Associated Presentations To Date: Haines, TH.  Cardiolipin's Structure, ATP Synthesis & Barth Syndrome.  2009 Biophysical Society Meeting Abstracts. Biophysical Journal, Supplement, Abstract, 1243-Pos.
	Grant M. Hatch, PhD Professor, Pharmacology and Therapeutics Acting Associate Dean of Medicine for Research University of Manitoba Winnipeg, Manitoba, Canada "Cholesterol Metabolism in Barth Syndrome" Award — US $40,000 over 2-year period *Funding for this award was provided by The Barth Syndrome Foundation, Inc. and the Barth Syndrome Foundation of Canada Associated Publications To Date: Hauff KD, Choi SY, Frohman MA, Hatch GM.  Cardiolipin synthesis is required to support human cholesterol biosynthesis from palmitate upon serum removal in Hela cells.  Can J Physiol Pharmacol. 2009 Oct;87(10):813-20.  (PubMed Abstract) Hauff KD, Hatch, GM.  Cardiolipin metabolism and Barth Syndrome.  Prog Lipid Res. 2006 Mar;45(2):91-101. Epub 2006 Jan 18.  (PubMed Abstract)
	Toshihide Kobayashi, PhD Chief Scientist Director of Lipid Biology Laboratory RIKEN Wako, Saitama, Japan "Characterization of Endosome Specific Lipid Lysobisphosphatidic Acid in Lymphoblasts from Patients with Barth Syndrome" Award — US $23,100 over 1-year period Associated Publications To Date: Hullin-Matsuda F, Kawasaki K, Delton-Vandenbroucke I, Xu Y, Nishijima M, Lagarde M, Schlame M, Kobayashi T.  De novo biosynthesis of the late endosome lipid, bis(monoacylglycero)phosphate.  J Lipid Res. 2007 Sep;48(9):1997-2008. Epub 2007 Jun 8.  (PubMed Abstract)
	Eric A. Storch, PhD Assistant Professor, Psychiatry and Pediatrics University of Florida Gainesville, FL "Psychosocial Aspects of Barth Syndrome: Quality of Life, Family Functioning, and Relationship to Biologic Variables" Award — US $20,701 over 1.5-year period Associated Publications To Date: Storch EA, Keeley M, Merlo LJ, St. Amant JB, Jacob M, Storch J, Spencer C, Byrne BB.  Psychosocial functioning in youth with Barth syndrome.  Children's Health Care, Volume 38, Issue 2 April 2009, pp. 137-156.
Back to top	2004 Grant Cycle
	Willem Kulik, PhD Head, Mass Spectrometry/Metabolomics University of Amsterdam/AMC Amsterdam, The Netherlands "Retro- and Prospective Measurement of the Incidence of Barth Syndrome in Cardiomyopathic Patients and Development of a Tool for BTHS Newborn Screening Using HPLC Tandem Mass Spectrometry" Award — US $37,000 over 1-year period Associated Publications To Date: Kulik W, van Lenthe H, Stet FS, Houtkooper RH, Kemp H, Stone JE, Steward CG, Wanders RJ, Vaz FM.  Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome.  Clin Chem. 2008 Feb;54(2):371-8. Epub 2007 Dec 10.  (PubMed Abstract)
	Mindong Ren, PhD Assistant Professor of Cell Biology New York University School of Medicine New York, NY "A Drosophila Model of Barth Syndrome" Award — US $40,000 over 2-year period (revised) Associated Publications To Date: Acehan D, Khuchua Z, Houtkooper RH, Malhotra A, Kaufman J, Vaz FM, Ren M, Rockman HA, Stokes DL, Schlame M.  Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.  Mitochondrion. 2009 Apr;9(2):86-95. Epub 2008 Dec 11.  (PubMed Abstract) Xu Y, Condell M, Plesken H, Edelman-Novemsky I, Ma J, Ren M, Schlame M. A Drosophila model of Barth syndrome.  Proc Natl Acad Sci USA. 2006 Aug 1:103(31):11584-8. Epub 2006 Jul 19.  (PubMed Abstract) Schlame M, Ren M, Xu Y, Greenberg ML, Haller I.  Molecular symmetry in mitochondrial cardiolipins.  Chem Phys Lipids 2005 Dec;138(1-2):38-49. Epub 2005 Sep 7.  (PubMed Abstract)
	Carolyn T. Spencer, MD Assistant Professor of Pediatric Cardiology University of Florida Gainesville, FL "Cardiac Functional and Electrophysiological Abnormalities in Barth Syndrome" Award — US $40,000 over 2-year period Associated Publications To Date: Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ.  Cardiac and clincial phenotype in Barth syndrome. Pediatrics 2006 Aug; 118(2); e337-46. Epub 2006 Jul 17.  (PubMed Abstract) Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM.  Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.  Pediatr Cardiol. 2005 Sep-Oct;26(5):632-7. (PubMed Abstract)
	Arnold W. Strauss, MD Professor and Chair, Pediatrics Vanderbilt University Medical Center Nashville, TN "Tafazzin Function in Animal Models of Barth Syndrome" Award — US $40,000 over 1-year period Associated Publications To Date: Acehan D, Khuchua Z, Houtkooper RH, Malhotra A, Kaufman J, Vaz FM, Ren M, Rockman HA, Stokes DL, Schlame M.  Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.  Mitochondrion. 2009 Apr;9(2):86-95. Epub 2008 Dec 11.  (PubMed Abstract) Khuchua Z, Yue Z, Batts L, Strauss AW.  A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function.  Circ Res. 2006 Jul 21;99(2):201-8. Epub 2006 Jun 22.  (PubMed Abstract)
Back to top	2003 Grant Cycle
	David C. Dale, MD Professor of Medicine University of Washington Seattle, WA "Neutropenia in Barth Syndrome" Award — US $40,000 over 2-year period Associated Presentations To Date: Aprikyan A, Makaryan V, Dale DC.  Molecular studies of neutropenia in Barth syndrome.  Poster at the 2007 American Society of Hematology Annual Meeting.
	Mauro Degli Esposti, PhD Lecturer in Molecular Toxicology The University of Manchester Manchester, UK "Bid and Cardiolipin Metabolism: Impact on Neutropenia and Lymphoma Predisposition" Award — US $30,000 over 1-year period Associated Publications To Date: Sorice M, Circella A, Cristea IM, Garfalo T, Di Renzo L, Alessandri C, Valesini G, Degli Esposti M.  Cardiolipin and its metabolites move from mitochondria to other cellular membranes during death receptor-medicated apoptosis.  Cell Death Differ. 2004 Oct;11(10):1133-45.  (PubMed Abstract) Associated Presentations To Date: Esposti, MD.  The mitochondria-dependent death of neurosensory cells in vivo. Glasgow, Scotland. Fall 2004
	Taco W. Kuijpers, MD, PhD Professor in Pediatric Hematology, Immunology & Infectious Disease Emma Children´s Hospital/Academic Medical Center Amsterdam, The Netherlands "Neutrophil Function in Barth Syndrome in Relation to Annexin-V Binding and Cell Death" Award — US $40,000 over 2-year period Associated Publications To Date: Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpoour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG.  Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apopotosis. Blood 2004 May 15; 103(10):3915-3923. Epub 2004 Feb 5.  (PubMed Abstract)
	Cathryn S. Mah, PhD Research Assistant Professor of Pediatrics University of Florida Gainesville, FL "Genetic Analysis of Barth Syndrome" Award — US $40,000 over 2-year period
	Yang Xu, MD, PhD Research Assistant Scientist Department of Anesthesiology New York University School of Medicine New York, NY "Is Tafazzin a Phospholipid Transacylase?" Award — US $23,760 over 2-year period Associated Publications To Date: Acehan D, Xu Y, Stokes DL, Schlame M.  Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography.  Lab Invest. 2007 Jan;87(1):40-8. Epub 2006 Oct 16.  (PubMed Abstract) Xu Y, Malhotra A, Ren M, Schlame M.  The enzymatic function of tafazzin.  J Biolo Chem 2006 Dec 22:281(51):39217-24. Epub 2006 Nov 2.  (PubMed Abstract) Schlame M, Ren M.  Barth syndrome, a human disorder of cardiolipin metabolism.  FEBS Lett. 2006 Oct 9; 580(23):5450-5. Epub 2006 Jul 17.  (PubMed Abstract) Xu Y, Condell M, Plesken H, Edelman-Novemsky I, Ma J, Ren M, Schlame M.  A Drosophila model of Barth syndrome.  Proc Natl Acad Sci USA. 2006 Aug 1;103(31):11584-8. Epub 2006 Jul 19.  (PubMed Abstract) Schlame M, Ren M, Xu Y, Greenberg ML, Haller I.  Molecular symmetry in mitochondrial cardiolipins.  Chem Phys Lipids 2005 Dec;138(1-2):38-49. Epub 2005 Sep 7.  (PubMed Abstract) Xu Y, Sutachan JJ, Plesken H, Kelley RI, Schlame M.  Characterization of lymphoblast mitochondria from patients with Barth syndrome.  Lab Invest. 2005 Jun;85(6):823-30.  (PubMed Abstract)
Back to top	2002 Grant Cycle
	Iris L. Gonzalez, PhD Senior Research Scientist A.I. DuPont Hospital for Children Wilmington, DE "A Study of TAZ mRNAs in Barth Syndrome Individuals" Award — US $13,310 over 1.5-year period Associated Publications To Date: Kirwin SM, Vinette KM, Schwartz SB, Funanage VL, Gonzalez IL.  Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.  Fertil Steril. 2007 Apr;87(4):976.e5-7. Epub 2007 Jan 22.  (PubMed Abstract) Gonzalez IL.  Barth syndrome: TAZ gene mutations, mRNAs, and evolution.  Am J Med Genet A. 2005 May 1;134(4):409-14.  (PubMed Abstract) Associated Presentations To Date: Gonzalez I.  TAZ mRNAs in Barth syndrome subjects, alternative splicing and exon evoluation.  Poster at the American Society of Human Genetics Annual Meeting, Toronto, CA. October 2004.
	Miriam L. Greenberg, PhD Professor, Biological Sciences Wayne State University Detroit, MI "TAZ1 Gene Function in Yeast: a Molecular Model for Barth Syndrome" Award — US $39,630 over 2-year period Associated Publications To Date: Chen S, He Q, Greenberg ML.  Loss of tafazzin in yeast leads to increased oxidative stress during respiratory growth.  Molecular Microbiology (2008) 68(4), 1061–1072.  (PubMed Abstract) Li G, Chen S, Thompson MN, Greenberg ML.  New insights into the regulation of cardiolipin biosynthesis in yeast: Implications for Barth syndrome.  Biochim Biophys Acta. 2007 Mar;1771(3):432-41. Epub 2006 Jul 8.  (PubMed Abstract) Schlame M, Ren M, Xu Y, Greenberg ML, Haller I.  Molecular symmetry in mitochondrial cardiolipins.  Chem Phys Lipids 2005 Dec;138(1-2):38-49. Epub 2005 Sep 7.  (PubMed Abstract) Ma L, Vaz FM, Gu Z, Wanders RJ, Greenberg ML. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1delta mutant-Implications for Barth syndrome.  J Biol Chem. 2004 Oct 22;279(43):44394-9. Epub 2004 Aug 10.  (PubMed Abstract) Gu Z, Valianpour F, Chen S, Vaz FM, Hakkaart GA, Wanders RJA, Greenberg ML. Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome.  Mol Microbiol 2004 Jan;51(1):149-158.  (PubMed Abstract) Associated Presentations To Date: Greenberg M.  The role of cardiolipin in mitochondrial function: implications for Barth syndrome.  Poster at the Gordon Research Conference, July 2003. Greenberg M.  Aberrant cardiolipin metabolism in yeast taz1 mutant: A model of Barth syndrome.  Poster at the 6th Yeast Lipids Meeting, Colmar, France, May 2003.
	Grant M. Hatch, PhD Professor, Pharmacology & Therapeutics University of Manitoba Winnipeg, Manitoba, Canada "The Molecular Mechanism of Barth Syndrome" Award — US $18,287 over 1-year period Associated Publications To Date: Taylor WA, Hatch GM.  Identification of the human mitochondrial linoleoyl-coenzyme A monolysocardiolipin acyltransferase (MLCL AT-1).  J Biol Chem. 2009 Oct 30;284(44):30360-71. Epub 2009 Sep 8.  (PubMed Abstract) Hauff KD, Hatch, GM.  Cardiolipin metabolism and Barth syndrome.  Progress in Lipid Research 2006 Mar;45(2):91-101. Epub 2006 Jan 18.  (PubMed Abstract) Lu B, Kelher MR, Lee DP, Lewin TM, Coleman RA, Choy PC, Hatch GM.  Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues.  Biochem Cell Biol. 2004 Oct;82(5):569-76.  (PubMed Abstract) Associated Presentations To Date: Hatch G.  Barth syndrome: A childhood disease of phospholipid remodeling? Poster at the CHORI Research Seminar, Oakland, CA, September 2003. Hatch G.  Regulation of cardiolipin metabolism in Barth syndrome.  Poster at the 28th Annual Canadian Lipoprotein Conference, Muskoka, Ontario, October 2003.
	Arnold W. Strauss, MD Professor and Chairman of Pediatrics Vanderbilt University Medical Center Nashville, TN "A Mouse Gene Ablation Model of Barth Syndrome" Award — US $40,000 over 1-year period Associated Publications To Date: Acehan D, Khuchua Z, Houtkooper RH, Malhotra A, Kaufman J, Vaz FM, Ren M, Rockman HA, Stokes DL, Schlame M.  Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.  Mitochondrion. 2009 Apr;9(2):86-95. Epub 2008 Dec 11.  (PubMed Abstract) Khuchua Z, Yue Z, Batts L, Strauss AW.  A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function.  Circ Res. 2006 Jul 21;99(2):201-8. Epub 2006 Jun 22.  (PubMed Abstract)
	Frédéric M. Vaz, PhD Laboratory of Genetic Metabolic Disorders Academic Medical Center Amsterdam, The Netherlands "Resolution of the Function of the TAZ-gene and Characterization of its Gene Products" Award — US $37,715 over 1-year period Associated Publications To Date: Acehan D, Khuchua Z, Houtkooper RH, Malhotra A, Kaufman J, Vaz FM, Ren M, Rockman HA, Stokes DL, Schlame M.  Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.  Mitochondrion. 2009 Apr;9(2):86-95. Epub 2008 Dec 11.  (PubMed Abstract) Valianpour F, Mitsakos V, Schlemmer D, Towbin JA, Taylor JM, Ekert PG, Thorburn DR, Munnich A, Wanders RJ, Barth P, Vaz FM.  Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.  J Lipid Res. 2005 Jun;46(6):1182-95. Epub 2005 Apr 1.  (PubMed Abstract) Ma L, Vaz FM, Gu Z, Wanders RJ, Greenberg ML.  The human TAZ gene complements mitochondrial dysfunction in the yeast taz1delta mutant-Implications for Barth syndrome.  J Biol Chem. 2004 Oct 22;279(43):44394-9. Epub 2004 Aug 10.  (PubMed Abstract) Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJ.  Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.  J Biol Chem 2003 Oct 31; 278(44):43089-94. Epub 2003 Aug 20.  (PubMed Abstract)

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