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Open Access Articles Relevant to Barth Syndrome

*Publications that acknowledge financial support contributed by BSF and/or BSF Affiliates.

▼Publications that acknowledge biological samples (and/or information) from Barth families, the Barth Syndrome Registry and Repository (BRR), and/or BSF Affiliates.

Open Access Review Articles Relevant to Barth Syndrome

Shen Z, Ye C, McCain K, Greenberg ML. The role of cardiolipin in cardiovascular health. Biomed Res Int. 2015;2015:891707. doi: 10.1155/2015/891707. Epub 2015 Aug 2. Review. (PubMed - Open Access)*

Reynolds S. Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. J Multidiscip Healthc. 2015 Jul 29;8:345-58. doi: 10.2147/JMDH.S54802. eCollection 2015. Review. (PubMed - Open Access)

Ferreira C, Thompson WR, Vernon H. Barth syndrome. GeneReviews. October 9, 2014. (PubMed - Open Access)

Clarke SLN, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet Journal of Rare Diseases 2013, 8:23. (PubMed - Open Access)*▼

Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012 Nov;158A(11):2726-32. doi: 10.1002/ajmg.a.35609. Epub 2012 Oct 8. (PubMed - Open Access)*▼

Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P. Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn. 2010 Oct;30(10):970-6. (PubMed - Open Access)*▼

Open Access Articles Relevant to Barth Syndrome

Hornby B, McClellan R, Buckley L, Carson K, Gooding T, Vernon HJ. Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome. Orphanet J Rare Dis. 2019 Feb 11;14(1):37. doi: 10.1186/s13023-019-1006-8. (PubMed - Open Access)*▼

Huang Y, Powers C, Moore V, Schafer C, Ren M, Phoon CK, James JF, Glukhov AV, Javadov S, Vaz FM, Jefferies JL, Strauss AW, Khuchua Z. The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. Orphanet J Rare Dis. 2017 Mar 9;12(1):49. doi: 10.1186/s13023-017-0605-5. (PubMed - Open Access)*

Dudek J, Cheng IF, Chowdhury A, Wozny K, Balleininger M, Reinhold R, Grunau S, Callegari S, Toischer K, Wanders RJ, Hasenfuß G, Brügger B, Guan K, Rehling P. Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. EMBO Mol Med.2016 Feb 1;8(2):139-54. (PubMed - Open Access)

Angelini R, Lobasso S, Gorgoglione R, Bowron A, Steward CG, Corcelli A. Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as screening tool for Barth syndrome. J Lipid Res. 2015 Sep;56(9):1787-94. doi: 10.1194/jlr.D059824. Epub 2015 Jul 5. (PubMed - Open Access)*▼

Cadalbert LC, Ghaffar FN, Stevenson D, Bryson S, Vaz FM, Gottlieb E, Strathdee D. Mouse tafazzin is required for male germ cell meiosis and spermatogenesis. PLoS One. 2015 Jun 26;10(6):e0131066. doi:10.1371/journal.pone.0131066. eCollection 2015.(PubMed - Open Access)*

Huang Y, Powers C, Madala SK, Greis KD, Haffey WD, Towbin JA, Purevjav E, Javadov S, Strauss AW, Khuchua Z. Cardiac metabolic pathways affected in the mouse model of Barth syndrome. PLoS One. 2015 Jun 1;10(6):e0128561. doi: 10.1371/journal.pone.0128561. eCollection 2015. (PubMed - Open Access)*

Hijikata A, Yura K, Ohara O, Go M. Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. Meta Gene. 2015 Apr 22;4:92-106. doi: 10.1016/j.mgene.2015.04.001. eCollection 2015 Jun. (PubMed - Open Access)

Reynolds S, Kreider CM, Meeley L, Bendixen RM. Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth syndrome. J Rare Disorders. March 2015. (PubMed - Open Access)

Gaspard GJ, McMaster CR. The mitochondrial quality control protein Yme1 is necessary to prevent defective mitophagy in a yeast model of Barth syndrome. J Biol Chem. 2015 Apr 3;290(14):9284-98. doi: 10.1074/jbc.M115.641878. Epub 2015 Feb 16. (PubMed - Open Access)*

He Q, Harris N, Ren J, Han X. Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes. Oxid Med Cell Longev. 2014;2014:654198. Epub 2014 Aug 27. (PubMed - Open Access)*

Bowron A, Honeychurch J, Williams M, Tsai-Goodman B, Clayton N, Jones L, Shortland GJ, Qureshi SA, Heales SJ, Steward CG. Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. J Inherit Metab Dis. 2015 Mar;38(2):279-86. doi: 10.1007/s10545-014-9747-y. Epub 2014 Aug 12. (PubMed - Open Access)

Folsi V, Miglietti N, Lombardi A, Boccacci S, Utyatnikova T, Donati C, Squassabia L,Gazzola L, Bosio I, Borghi A, Grassi V, Notarangelo LD, Plebani A. Cardiomyopathy in a male patient with neutropenia and growth delay. Ital J Pediatr. 2014 May 12;40:45. doi:10.1186/1824-7288-40-45. (PubMed - Open Access)

Wang G, McCain ML, Yang L, He A, Pasqualini FS, Agarwal A, Yuan H, Jiang D, Zhang D, Zangi L, Geva J, Roberts AE, Ma Q, Ding J, Chen J, Wang DZ, Li K, Wang J, Wanders RJA, Kulik W, Vaz FM, Laflamme MA, Murry CE, Chien KR, Kelley RI, Church GM, Parker K, Pu WT. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat Med. 2014 Jun;20(6):616-23. doi: 10.1038/nm.3545. Epub 2014 May 11. (PubMed - Open Access)*

Requests from academic investigators for the iPSC lines described in this manuscript should be sent to William Pu ( The requests should be accompanied by a letter from the individual’s Institutional Review Board for clinical investigations that states that the proposed use of the cells is either covered by an IRB-approved protocol, or that it has been determined to be exempt from IRB review.

Supporting Data:

Strength of Cardiac Tissue Derived from Healthy vs. Barth Syndrome Patients. (Permission granted from Megan McCain and Kevin Kit Parker, Wyss Institute)

June 2014
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Heart disease on a chip

Last updated 2/17/2019

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