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Volumn 134 A, Issue 4, 2005, Pages 409-414

Barth syndrome: TAZ gene mutations, mRNAs, and evolution

Author keywords

Barth syndrome; Dilated cardiomyopathy; Neutropenia; Tafazzin; TAZ mRNA

Indexed keywords

3 METHYLGLUTACONIC ACID; MESSENGER RNA;

EID: 18044371879     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30661     Document Type: Article
Times cited : (55)

References (14)
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    • Busch HFM, Jennekens FGI, Schotte HR, editors. Beetsterzwaag, The Netherlands: Mefar
    • Barth PG, Van't Veer-Korthof ET, Van Delden L, Van Dam K, Van der Harten JJ, Kuipers JRG. 1981. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle, and neutrophil leukocytes. In: Busch HFM, Jennekens FGI, Schotte HR, editors. Mitochondria and muscular diseases. Beetsterzwaag, The Netherlands: Mefar, pp 161-164.
    • (1981) Mitochondria and Muscular Diseases , pp. 161-164
    • Barth, P.G.1    Van't Veer-Korthof, E.T.2    Van Delden, L.3    Van Dam, K.4    Van Der Harten, J.J.5    Kuipers, J.R.G.6
  • 5
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    • Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
    • Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. 1991. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 48:481-485.
    • (1991) Am J Hum Genet , vol.48 , pp. 481-485
    • Bolhuis, P.A.1    Hensels, G.W.2    Hulsebos, T.J.3    Baas, F.4    Barth, P.G.5
  • 6
    • 4243935828 scopus 로고
    • X-linked cardiomyopathy, neutropenia, and increased urinary levels of 3-methyl-glutaconic and 2-ethylhydracrylic acids
    • Abstract
    • Kelley RI, Clark BJ, Morton DH, Sherwood WG. 1989. X-linked cardiomyopathy, neutropenia, and increased urinary levels of 3-methyl-glutaconic and 2-ethylhydracrylic acids. (Abstract) Am J Hum. Genet 45(suppl.):A7.
    • (1989) Am J Hum Genet , vol.45 , Issue.SUPPL.
    • Kelley, R.I.1    Clark, B.J.2    Morton, D.H.3    Sherwood, W.G.4
  • 8
    • 0031204998 scopus 로고    scopus 로고
    • Barth syndrome may be due to an acyltransferase deficiency
    • Neuwald AF. 1997. Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 7:R465-R466.
    • (1997) Curr Biol , vol.7
    • Neuwald, A.F.1
  • 9
    • 0035186020 scopus 로고    scopus 로고
    • A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: Creation of a 5′ splice donor site with variant GC concensus and elongation of the upstream exon
    • Sakamoto O, Ohura T, Katsushima Y, Fujiwara I, Ogawa E, Miyabayashi S, Iinuma K. 2001. A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: Creation of a 5′ splice donor site with variant GC concensus and elongation of the upstream exon. Hum Genet 109:559-563.
    • (2001) Hum Genet , vol.109 , pp. 559-563
    • Sakamoto, O.1    Ohura, T.2    Katsushima, Y.3    Fujiwara, I.4    Ogawa, E.5    Miyabayashi, S.6    Iinuma, K.7
  • 12
    • 0242322008 scopus 로고    scopus 로고
    • 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. 2003. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem 278:43089-43094.
    • (2003) J Biol Chem , vol.278 , pp. 43089-43094
    • Vaz, F.M.1    Houtkooper, R.H.2    Valianpour, F.3    Barth, P.G.4    Wanders, R.J.5
  • 14
    • 0345803935 scopus 로고    scopus 로고
    • Remodeling of cardiolipin by phospholipid transacylation
    • Xu Y, Kelley RI, Blanck TJ, Schlame M. 2003. Remodeling of cardiolipin by phospholipid transacylation. J Biol Chem 278:51380-51385.
    • (2003) J Biol Chem , vol.278 , pp. 51380-51385
    • Xu, Y.1    Kelley, R.I.2    Blanck, T.J.3    Schlame, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.