메뉴 건너뛰기




Volumn 580, Issue 23, 2006, Pages 5450-5455

Barth syndrome, a human disorder of cardiolipin metabolism

Author keywords

Cardiomyopathy; Fatty acid; Mitochondrial disease; Phospholipids; Skeletal muscle; Tafazzin

Indexed keywords

ACYLTRANSFERASE; CARDIOLIPIN; PHOSPHOLIPID;

EID: 33749061065     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2006.07.022     Document Type: Short Survey
Times cited : (261)

References (52)
  • 1
    • 0345033866 scopus 로고
    • An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
    • Busch H.F.M., Jennekens F.G.I., and Scholte H.R. (Eds), Mefar, Beeststerzwaag
    • Barth P.G., van't Veer-Korthof E.T., van Delden L., van Dam K., van der Harten J.J., and Kuipers J.R.G. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. In: Busch H.F.M., Jennekens F.G.I., and Scholte H.R. (Eds). Mitochondria and Muscular Diseases (1981), Mefar, Beeststerzwaag 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
  • 3
    • 0018393867 scopus 로고
    • An X-linked recessive cardiomyopathy with abnormal mitochondria
    • Neustein H.B., Lurie P.R., Dahms B., and Takahashi M. An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64 (1979) 24-29
    • (1979) Pediatrics , vol.64 , pp. 24-29
    • Neustein, H.B.1    Lurie, P.R.2    Dahms, B.3    Takahashi, M.4
  • 8
    • 0035451482 scopus 로고    scopus 로고
    • Preliminary evidence for a cognitive phenotype in Barth syndrome
    • Mazzocco M.M.M., and Kelley R.I. Preliminary evidence for a cognitive phenotype in Barth syndrome. Am. J. Med. Genet. 102 (2001) 372-378
    • (2001) Am. J. Med. Genet. , vol.102 , pp. 372-378
    • Mazzocco, M.M.M.1    Kelley, R.I.2
  • 10
    • 0026019727 scopus 로고
    • Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
    • Bolhuis P.A., Hensels G.W., Hulsebos T.J.M., Baas F., and Barth P.G. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am. J. Hum. Genet. 48 (1991) 481-485
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 481-485
    • Bolhuis, P.A.1    Hensels, G.W.2    Hulsebos, T.J.M.3    Baas, F.4    Barth, P.G.5
  • 16
    • 9244237111 scopus 로고    scopus 로고
    • Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues
    • Lu B., Kelher M.R., Lee D.P., Lewin T.M., Coleman R.A., Choy P.C., and Hatch G.M. Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues. Biochem. Cell Biol. 82 (2004) 569-576
    • (2004) Biochem. Cell Biol. , vol.82 , pp. 569-576
    • Lu, B.1    Kelher, M.R.2    Lee, D.P.3    Lewin, T.M.4    Coleman, R.A.5    Choy, P.C.6    Hatch, G.M.7
  • 17
    • 18044371879 scopus 로고    scopus 로고
    • Barth syndrome: TAZ gene mutations, mRNAs, and evolution
    • Gonzalez I.L. Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am. J. Med. Genet. 134A (2005) 409-414
    • (2005) Am. J. Med. Genet. , vol.134 A , pp. 409-414
    • Gonzalez, I.L.1
  • 18
    • 0031204998 scopus 로고    scopus 로고
    • Barth syndrome may be due to an acyltransferase deficiency
    • Neuwald A.F. Barth syndrome may be due to an acyltransferase deficiency. Curr. Biol. 7 (1997) R465-R466
    • (1997) Curr. Biol. , vol.7
    • Neuwald, A.F.1
  • 20
    • 0034193996 scopus 로고    scopus 로고
    • The biosynthesis and functional role of cardiolipin
    • Schlame M., Rua D., and Greenberg M.L. The biosynthesis and functional role of cardiolipin. Progr. Lipid Res. 39 (2000) 257-288
    • (2000) Progr. Lipid Res. , vol.39 , pp. 257-288
    • Schlame, M.1    Rua, D.2    Greenberg, M.L.3
  • 21
    • 0025650402 scopus 로고
    • Lysocardiolipin formation and reacylation in isolated rat liver mitochondria
    • Schlame M., and Rustow B. Lysocardiolipin formation and reacylation in isolated rat liver mitochondria. Biochem. J. 272 (1990) 589-595
    • (1990) Biochem. J. , vol.272 , pp. 589-595
    • Schlame, M.1    Rustow, B.2
  • 26
    • 0036721531 scopus 로고    scopus 로고
    • Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients
    • Valianpour F., Wanders J.A., Barth P.G., Overmars H., and van Gennip A.H. Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. Clin. Chem. 48 (2002) 1390-1397
    • (2002) Clin. Chem. , vol.48 , pp. 1390-1397
    • Valianpour, F.1    Wanders, J.A.2    Barth, P.G.3    Overmars, H.4    van Gennip, A.H.5
  • 29
    • 20444379687 scopus 로고    scopus 로고
    • Characterization of lymphoblast mitochondria from patients with Barth syndrome
    • Xu Y., Sutachan J.J., Plesken H., Kelley R.I., and Schlame M. Characterization of lymphoblast mitochondria from patients with Barth syndrome. Lab. Invest. 85 (2005) 823-830
    • (2005) Lab. Invest. , vol.85 , pp. 823-830
    • Xu, Y.1    Sutachan, J.J.2    Plesken, H.3    Kelley, R.I.4    Schlame, M.5
  • 30
    • 0038620484 scopus 로고    scopus 로고
    • Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment
    • Valianpour F., Wanders R.J.A., Overmars H., Vaz F.M., Barth P.G., and van Gennip A.H. Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment. J. Lipid Res. 44 (2003) 560-566
    • (2003) J. Lipid Res. , vol.44 , pp. 560-566
    • Valianpour, F.1    Wanders, R.J.A.2    Overmars, H.3    Vaz, F.M.4    Barth, P.G.5    van Gennip, A.H.6
  • 31
    • 0345803935 scopus 로고    scopus 로고
    • Remodeling of cardiolipin by phospholipid transacylation
    • Xu Y., Kelley R.I., Blanck T.J.J., and Schlame M. Remodeling of cardiolipin by phospholipid transacylation. J. Biol. Chem. 278 (2003) 51380-51385
    • (2003) J. Biol. Chem. , vol.278 , pp. 51380-51385
    • Xu, Y.1    Kelley, R.I.2    Blanck, T.J.J.3    Schlame, M.4
  • 32
    • 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 F.M., Houtkooper R.H., Valianpour F., Barth P.G., and Wanders R.J.A. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J. Biol. Chem. 278 (2003) 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.A.5
  • 33
    • 33749074707 scopus 로고    scopus 로고
    • Xu, Y., Condell, M., Plesken, H., Edelman-Novemsky, I., Ma, J., Ren, M. and Schlame, M. (in press) A Drosophila model of Barth syndrome. Proc. Natl. Acad. Sci. USA.
  • 35
    • 0035999529 scopus 로고    scopus 로고
    • Evidence of tetradocosahexaenoic cardiolipin in some marine bivalves
    • Kraffe E., Soudant P., Marty Y., Kervarec N., and Jehan P. Evidence of tetradocosahexaenoic cardiolipin in some marine bivalves. Lipids 37 (2002) 507-514
    • (2002) Lipids , vol.37 , pp. 507-514
    • Kraffe, E.1    Soudant, P.2    Marty, Y.3    Kervarec, N.4    Jehan, P.5
  • 36
    • 0016276265 scopus 로고
    • The nonequivalence of the phosphorus atoms in cardiolipin
    • Powell G.L., and Jacobus J. The nonequivalence of the phosphorus atoms in cardiolipin. Biochemistry 13 (1974) 4024-4026
    • (1974) Biochemistry , vol.13 , pp. 4024-4026
    • Powell, G.L.1    Jacobus, J.2
  • 37
    • 0001384244 scopus 로고
    • Metabolism of glycerolipids. II. The enzymatic acylation of lysolecithin
    • Lands W.E.M. Metabolism of glycerolipids. II. The enzymatic acylation of lysolecithin. J. Biol. Chem. 235 (1960) 2233-2237
    • (1960) J. Biol. Chem. , vol.235 , pp. 2233-2237
    • Lands, W.E.M.1
  • 38
    • 0038644881 scopus 로고    scopus 로고
    • Purification and characterization of monolysocardiolipin acyltransferase from pig liver mitochondria
    • Taylor W.A., and Hatch G.M. Purification and characterization of monolysocardiolipin acyltransferase from pig liver mitochondria. J. Biol. Chem. 278 (2003) 12716-12721
    • (2003) J. Biol. Chem. , vol.278 , pp. 12716-12721
    • Taylor, W.A.1    Hatch, G.M.2
  • 39
    • 3843084029 scopus 로고    scopus 로고
    • A novel cardiolipin-remodeling pathway revealed by a gene encoding an endoplasmic reticulum-associated acyl-CoA:lysocardiolipin acylttansferase (ALCAT1) in mouse
    • Cao J., Liu Y., Lockwood J., Burn P., and Shi Y. A novel cardiolipin-remodeling pathway revealed by a gene encoding an endoplasmic reticulum-associated acyl-CoA:lysocardiolipin acylttansferase (ALCAT1) in mouse. J. Biol. Chem. 279 (2004) 31727-31734
    • (2004) J. Biol. Chem. , vol.279 , pp. 31727-31734
    • Cao, J.1    Liu, Y.2    Lockwood, J.3    Burn, P.4    Shi, Y.5
  • 40
    • 18844391214 scopus 로고    scopus 로고
    • Ypr140wp, 'the yeast tafazzin', displays a mitochondrial lysophosphatidylcholine (lyso-PC) acyltransferase activity related to triacylglycerol and mitochondrial lipid synthesis
    • Testet E., Laroche-Traineau J., Noubhani A., Coulon D., Bunoust O., Camougrand N., Manon S., Lessire R., and Bessoule J.-J. Ypr140wp, 'the yeast tafazzin', displays a mitochondrial lysophosphatidylcholine (lyso-PC) acyltransferase activity related to triacylglycerol and mitochondrial lipid synthesis. Biochem. J. 387 (2005) 617-626
    • (2005) Biochem. J. , vol.387 , pp. 617-626
    • Testet, E.1    Laroche-Traineau, J.2    Noubhani, A.3    Coulon, D.4    Bunoust, O.5    Camougrand, N.6    Manon, S.7    Lessire, R.8    Bessoule, J.-J.9
  • 41
    • 7244224978 scopus 로고    scopus 로고
    • The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Δ mutant. Implications for Barth syndrome
    • Ma L., Vaz F.M., Gu Z., Wanders R.J.A., and Greenberg M.L. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Δ mutant. Implications for Barth syndrome. J. Biol. Chem. 279 (2004) 44394-44399
    • (2004) J. Biol. Chem. , vol.279 , pp. 44394-44399
    • Ma, L.1    Vaz, F.M.2    Gu, Z.3    Wanders, R.J.A.4    Greenberg, M.L.5
  • 42
    • 0032841432 scopus 로고    scopus 로고
    • Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease
    • Schlame M., Shanske S., Doty S., Konig T., Sculco T., DiMauro S., and Blanck T.J.J. Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease. J. Lipid Res. 40 (1999) 1585-1592
    • (1999) J. Lipid Res. , vol.40 , pp. 1585-1592
    • Schlame, M.1    Shanske, S.2    Doty, S.3    Konig, T.4    Sculco, T.5    DiMauro, S.6    Blanck, T.J.J.7
  • 45
    • 0037113864 scopus 로고    scopus 로고
    • Gluing the respiratory chain together. Cardiolipin is required for supercomplex formation in the inner mitochondrial membrane
    • Zhang M., Mileykovskaya E., and Dowhan W. Gluing the respiratory chain together. Cardiolipin is required for supercomplex formation in the inner mitochondrial membrane. J. Biol. Chem. 277 (2002) 43553-43556
    • (2002) J. Biol. Chem. , vol.277 , pp. 43553-43556
    • Zhang, M.1    Mileykovskaya, E.2    Dowhan, W.3
  • 47
    • 27644437287 scopus 로고    scopus 로고
    • Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: Implications for Barth syndrome
    • Brandner K., Mick D.U., Frazier A.E., Taylor R.D., Meisinger C., and Rehling P. Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: Implications for Barth syndrome. Mol. Biol. Cell 16 (2005) 5202-5214
    • (2005) Mol. Biol. Cell , vol.16 , pp. 5202-5214
    • Brandner, K.1    Mick, D.U.2    Frazier, A.E.3    Taylor, R.D.4    Meisinger, C.5    Rehling, P.6
  • 48
    • 0027497625 scopus 로고
    • Cardiolipin is synthesized on the matrix side of the inner membrane of rat liver mitochondria
    • Schlame M., and Haldar D. Cardiolipin is synthesized on the matrix side of the inner membrane of rat liver mitochondria. J. Biol. Chem. 268 (1993) 74-79
    • (1993) J. Biol. Chem. , vol.268 , pp. 74-79
    • Schlame, M.1    Haldar, D.2
  • 49
    • 0036126877 scopus 로고    scopus 로고
    • Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle
    • Bissler J.J., Tsoras M., Goring H.H.H., Hug P., Chuck G., Tombragel E., McGraw C., Schlotman J., Ralston M.A., and Hug G. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. Lab. Invest. 82 (2002) 335-344
    • (2002) Lab. Invest. , vol.82 , pp. 335-344
    • Bissler, J.J.1    Tsoras, M.2    Goring, H.H.H.3    Hug, P.4    Chuck, G.5    Tombragel, E.6    McGraw, C.7    Schlotman, J.8    Ralston, M.A.9    Hug, G.10
  • 50
    • 33646427709 scopus 로고    scopus 로고
    • Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
    • Davey K.M., Parboosingh J.S., McLeod D.R., Chan A., Casey R., Ferreira P., Snyder F.F., Bridge P.J., and Bernier F.P. Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J. Med. Gen. 43 (2006) 385-393
    • (2006) J. Med. Gen. , vol.43 , pp. 385-393
    • Davey, K.M.1    Parboosingh, J.S.2    McLeod, D.R.3    Chan, A.4    Casey, R.5    Ferreira, P.6    Snyder, F.F.7    Bridge, P.J.8    Bernier, F.P.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.