Citations for
1BTHS, TAZ
Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.
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.
Biochim Biophys Acta Mol Basis Dis 1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1. 2018
2BTHS, TAZ
Defining functional classes of Barth syndrome mutation in humans.
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.
Hum Mol Genet 25(9):1754-70. doi: 10.1093/hmg/ddw046. Epub 2016 Feb 16. 2016
3BTHS, TAZ
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.
Ferri L, Dionisi-Vici C, Taurisano R, Vaz FM, Guerrini R, Morrone A.
Clin Genet 90(5):461-465. doi: 10.1111/cge.12756. Epub 2016 Mar 4. 2016
4BTHS, TAZ
Cardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagy.
Hsu P, Liu X, Zhang J, Wang HG, Ye JM, Shi Y.
Autophagy 11(4):643-52. doi: 10.1080/15548627.2015.1023984. 2015
5BTHS, TAZ
Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes.
He Q, Harris N, Ren J, Han X.
Oxid Med Cell Longev 2014:654198. doi: 10.1155/2014/654198. Epub 2014 Aug 27. 2014
6BTHS, TAZ
Tafazzin splice variants and mutations in Barth syndrome.
Kirwin SM, Manolakos A, Barnett SS, Gonzalez IL.
Mol Genet Metab 111(1):26-32. doi: 10.1016/j.ymgme.2013.11.006. Epub 2013 Nov 19. 2014
7BTHS, TAZ
Seven functional classes of Barth syndrome mutation.
Whited K, Baile MG, Currier P, Claypool SM.
Hum Mol Genet 22(3):483-92. doi: 10.1093/hmg/dds447. Epub 2012 Oct 24. 2013
8BTHS, TAZ
Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.
Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, Kulik W, Wansapura J, Toth MJ, Strauss A, Khuchua Z.
J Biol Chem 286(2):899-908. Epub 2010 Nov 9. 2011
9BTHS, TAZ
Barth syndrome mutations that cause tafazzin complex lability.
Claypool SM, Whited K, Srijumnong S, Han X, Koehler CM.
J Cell Biol 192(3):447-62. 2011
10BTHS, TAZ
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.
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.
Mol Genet Metab 100(2):198-203. Epub 2010 Mar 2.PMID: 20303308 2010
11BTHS, TAZ
Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography.
Acehan D, Xu Y, Stokes DL, Schlame M.
Lab Invest 87(1):40-8. Epub 2006 Oct 16. 2007
12BTHS, TAZ
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
van Werkhoven MA, Thorburn DR, Gedeon AK, Pitt JJ.
J Lipid Res 47(10):2346-51. Epub 2006 Jul 27. 2006
13BTHS, TAZ
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
McKenzie M, Lazarou M, Thorburn DR, Ryan MT.
J Mol Biol 361(3):462-9. Epub 2006 Jul 5. 2006
14BTHS, TAZ
Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome.
Brandner K, Mick DU, Frazier AE, Taylor RD, Meisinger C, Rehling P.
Mol Biol Cell 16(11):5202-14. Epub 2005 Aug 31. 2005
15BTHS, TAZ
Barth syndrome: TAZ gene mutations, mRNAs, and evolution.
Gonzalez IL.
Am J Med Genet A 134(4):409-14. 2005
16BTHS, TAZ
Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues.
Lu B, Kelher MR, Lee DP, Lewin TM, Coleman RA, Choy PC, Hatch GM.
Biochem Cell Biol 82(5):569-76. 2004
17TAZ, BTHS
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.
Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJ.
J Biol Chem 278(44):43089-94. Epub 2003 Aug 20. Erratum in: J Biol Chem. 2004 Jun 18;279(25):26802. 2003
18BTHS2, DTNA, BTHS, LVNC, TAZ
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA.
Circulation 103(9):1256-63. 2001
19BTHS
X chromosome inactivation in carriers of Barth syndrome.
…rstavik KH, et al.
Am J Hum Genet 63 : 1457-1463. 1998
20CMD3A, BTHS, INVM, TAZ
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
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.
Am J Hum Genet 61(4):862-7. 1997
21BTHS, TAZ
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R.
Am J Hum Genet 61(5):1053-8. 1997
22BTHS
Barth syndrome : clinical observations and genetic linkage studies.
Christodoulou J, et al.
Am J Med Genet 50 : 255-264. 1994
23BTHS
Barth syndrome : clinical features and confirmation of gene localisation to distal Xq28.
Ad¸s LC, et al.
Am J Med Genet 45 : 327-334. 1993
24BTHS
Possible X linked congenital mitochondrial cardiomyopathy in three families.
…rstavik KH, et al.
J Med Genet 30 : 269-272. 1993
25BTHS
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.
Bolhuis PA, et al.
Am J Hum Genet 48 : 481-485. 1991
26BTHS
Endocardial fibroelastosis: possible X linked inheritance.
Hodgson S, et al.
J Med Genet 24 : 210-214. 1987
27BTHS
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.
Barth PG, et al.
J Neurol Sci 62 : 327-355. 1983
28BTHS
Endocardial fibroelastosis found on transvacular endomyocardial biopsy in children.
Neustein HB, et al.
Arch Pathol Lab Med 103 : 214-219. 1979