| 1 | BTHS, TAZ
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| Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.
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| Chatzispyrou IA, Guerrero-Castillo S, Held NM, Ruiter JPN, Denis SW, IJlst L, Wanders RJ, van Weeghel M, Ferdinandusse S, Vaz FM, Brandt U, Houtkooper RH.
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| Biochim Biophys Acta Mol Basis Dis 1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1.
2018
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| 2 | BTHS, TAZ
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| Defining functional classes of Barth syndrome mutation in humans.
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| Lu YW, Galbraith L, Herndon JD, Lu YL, Pras-Raves M, Vervaart M, Van Kampen A, Luyf A, Koehler CM, McCaffery JM, Gottlieb E, Vaz FM, Claypool SM.
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| Hum Mol Genet 25(9):1754-70. doi: 10.1093/hmg/ddw046. Epub 2016 Feb 16.
2016
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| 3 | BTHS, TAZ
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| When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.
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| Ferri L, Dionisi-Vici C, Taurisano R, Vaz FM, Guerrini R, Morrone A.
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| Clin Genet 90(5):461-465. doi: 10.1111/cge.12756. Epub 2016 Mar 4.
2016
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| 4 | BTHS, TAZ
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| Cardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagy.
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| Hsu P, Liu X, Zhang J, Wang HG, Ye JM, Shi Y.
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| Autophagy 11(4):643-52. doi: 10.1080/15548627.2015.1023984.
2015
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| 5 | BTHS, TAZ
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| Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes.
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| He Q, Harris N, Ren J, Han X.
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| Oxid Med Cell Longev 2014:654198. doi: 10.1155/2014/654198. Epub 2014 Aug 27.
2014
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| 6 | BTHS, TAZ
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| Tafazzin splice variants and mutations in Barth syndrome.
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| Kirwin SM, Manolakos A, Barnett SS, Gonzalez IL.
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| Mol Genet Metab 111(1):26-32. doi: 10.1016/j.ymgme.2013.11.006. Epub 2013 Nov 19.
2014
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| 7 | BTHS, TAZ
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| Seven functional classes of Barth syndrome mutation.
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| Whited K, Baile MG, Currier P, Claypool SM.
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| Hum Mol Genet 22(3):483-92. doi: 10.1093/hmg/dds447. Epub 2012 Oct 24.
2013
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| 8 | BTHS, TAZ
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| Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.
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| Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, Kulik W, Wansapura J, Toth MJ, Strauss A, Khuchua Z.
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| J Biol Chem 286(2):899-908. Epub 2010 Nov 9.
2011
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| 9 | BTHS, TAZ
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| Barth syndrome mutations that cause tafazzin complex lability.
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| Claypool SM, Whited K, Srijumnong S, Han X, Koehler CM.
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| J Cell Biol 192(3):447-62.
2011
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| 10 | BTHS, TAZ
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| Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.
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| Chang B, Momoi N, Shan L, Mitomo M, Aoyagi Y, Endo K, Takeda I, Chen R, Xing Y, Yu X, Watanabe S, Yoshida T, Kanegane H, Tsubata S, Bowles NE, Ichida F, Miyawaki T; Noncompaction study collaborators.
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| Mol Genet Metab 100(2):198-203. Epub 2010 Mar 2.PMID: 20303308 2010
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| 11 | BTHS, TAZ
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| Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography.
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| Acehan D, Xu Y, Stokes DL, Schlame M.
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| Lab Invest 87(1):40-8. Epub 2006 Oct 16.
2007
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| 12 | BTHS, TAZ
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| Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
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| van Werkhoven MA, Thorburn DR, Gedeon AK, Pitt JJ.
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| J Lipid Res 47(10):2346-51. Epub 2006 Jul 27.
2006
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| 13 | BTHS, TAZ
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| Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
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| McKenzie M, Lazarou M, Thorburn DR, Ryan MT.
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| J Mol Biol 361(3):462-9. Epub 2006 Jul 5.
2006
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| 14 | BTHS, TAZ
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| Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome.
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| Brandner K, Mick DU, Frazier AE, Taylor RD, Meisinger C, Rehling P.
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| Mol Biol Cell 16(11):5202-14. Epub 2005 Aug 31. 2005
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| 15 | BTHS, TAZ
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| Barth syndrome: TAZ gene mutations, mRNAs, and evolution.
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| Gonzalez IL.
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| Am J Med Genet A 134(4):409-14.
2005
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| 16 | BTHS, TAZ
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| Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues.
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| Lu B, Kelher MR, Lee DP, Lewin TM, Coleman RA, Choy PC, Hatch GM.
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| Biochem Cell Biol 82(5):569-76. 2004
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| 17 | TAZ, BTHS
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| Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.
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| Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJ.
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| J Biol Chem 278(44):43089-94. Epub 2003 Aug 20. Erratum in: J Biol Chem. 2004 Jun 18;279(25):26802. 2003
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| 18 | BTHS2, DTNA, BTHS, LVNC, TAZ
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| Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
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| Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA.
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| Circulation 103(9):1256-63. 2001
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| 19 | BTHS
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| X chromosome inactivation in carriers of Barth syndrome.
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| …rstavik KH, et al.
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| Am J Hum Genet 63 : 1457-1463. 1998
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| 20 | CMD3A, BTHS, INVM, TAZ
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| The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
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| D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D.
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| Am J Hum Genet 61(4):862-7. 1997
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| 21 | BTHS, TAZ
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| Mutation characterization and genotype-phenotype correlation in Barth syndrome.
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| Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R.
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| Am J Hum Genet 61(5):1053-8. 1997
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| 22 | BTHS
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| Barth syndrome : clinical observations and genetic linkage studies.
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| Christodoulou J, et al.
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| Am J Med Genet 50 : 255-264. 1994
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| 23 | BTHS
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| Barth syndrome : clinical features and confirmation of gene localisation to distal Xq28.
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| Ad¸s LC, et al.
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| Am J Med Genet 45 : 327-334. 1993
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| 24 | BTHS
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| Possible X linked congenital mitochondrial cardiomyopathy in three families.
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| …rstavik KH, et al.
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| J Med Genet 30 : 269-272. 1993
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| 25 | BTHS
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| Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.
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| Bolhuis PA, et al.
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| Am J Hum Genet 48 : 481-485. 1991
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| 26 | BTHS
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| Endocardial fibroelastosis: possible X linked inheritance.
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| Hodgson S, et al.
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| J Med Genet 24 : 210-214. 1987
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| 27 | BTHS
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| An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.
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| Barth PG, et al.
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| J Neurol Sci 62 : 327-355. 1983
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| 28 | BTHS
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| Endocardial fibroelastosis found on transvacular endomyocardial biopsy in children.
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| Neustein HB, et al.
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| Arch Pathol Lab Med 103 : 214-219. 1979
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