Erratum: Characterization of lymphoblast mitochondria from patients with Barth syndrome (Laboratory Investigation (2005) 85 (823-830) doi:10.1038/labinvest.3700274);Characterization of lymphoblast mitochondria from patients with Barth syndrome

Laboratory Investigation

Volumn 85, Issue 6, 2005, Pages 823-830

  Xu, Yang ^a   Sutachan, John J ^a   Plesken, Heide ^a   Kelley, Richard I ^b   Schlame, Michael ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Cardiomyopathy; Fatty acid; Mitochondria; Oxidative phosphorylation; Phospholipid

Indexed keywords

ACYLTRANSFERASE; CARDIOLIPIN; PHOSPHATIDYLCHOLINE; PHOSPHATIDYLETHANOLAMINE; PHOSPHOLIPID; TAFAZZIN; UNCLASSIFIED DRUG;

ARTICLE; BARTH SYNDROME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON MICROSCOPY; FATTY ACID TRANSPORT; FLUORESCENCE MICROSCOPY; GENE MUTATION; HUMAN; HUMAN CELL; LIPID ANALYSIS; LIPID COMPOSITION; LIPID METABOLISM; LYMPHOBLAST; MALE; MEMBRANE POTENTIAL; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL;

EID: 20444379687     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: 10.1038/labinvest.3700290     Document Type: Erratum

References (30)

1. Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983;62:327-355.
2. Kelley RI, Cheatham JP, Clark BJ, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991;119:738-747.
3. Barth PG, Wanders RJA, Vreken P, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 1999;22:555-567.
4. Earth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 2004;126A: 349-354.
5. Bione S, D'Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5. is responsible for Earth syndrome. Nat Genet 1996;12:385-389.
6. Neuwald AF. Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 1997;7:R465-R466.
7. Vreken P, Valianpour F, Nijtmans LG, et al. Defective remodeling of cardiolipin and phosphatidylglycerol in Earth syndrome. Biochem Biophys Res Comm 2000;279:378-382.
8. Schlame M, Rua D, Greenberg ML. The biosynthesis and functional role of cardiolipin. Progr Lipid Res 2000;39:257-288.
9. Schlame M, Towbin JA, Heerdt PM, et al. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 2002;51:634-637.
10. Schlame M, Kelley RI, Feigenbaum A, et al. Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol 2003;42:1994-1999.
11. Valianpour F, Wanders RJA, Earth PG, et al. Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry. Clin Chem 2002;48:1390-1397.
12. Kuijpers TW, Maianski NA, Tool ATJ, et al. Neutrophils in Earth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 2004;103:3915-3923.
13. Vaz FM, Houtkooper RH, Valianpour F, et al. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem 2003;278:43089-43094.
14. Gu Z, Valianpour F, Chen S, et al. Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. Mol Microbiol 2004;51:149-158.
15. Xu Y, Kelley RI, Blanck, TJJ, et al. Remodeling of cardiolipin by phospholipid transacylation. J Biol Chem 2003;278:51380-51385.
16. Towbin JA, Bowles NE. The failing heart. Nature 2002;415:227-233.
17. Schoenberger J, Seidman CE. Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. Am J Hum Genet 2001;69:249-260.
18. Trounce IA, Kim YL, Jun AS, et al. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol 1996;264:484-508.
19. Bligh EG, Dyer WJ. A rapid method of total lipid extraction and purification. Can J Biochem Physiol 1959;37:911-917.
20. Takamura H, Narita H, Urade R, et al. Quantitative analysis of polyenoic phospholipid molecular species by high performance liquid chromatography. Lipids 1986;21:356-361.
21. Ouhabi R, Boue-Grabot M, Mazat JP. Mitochondrial ATP synthesis in permeabilized cells: assessment of ATP/O values in situ. Anal Biochem 1998;263:169-175.
22. Williamson JR, Corkey BE. Assay of intermediates of the citric acid cycle and related compounds by fluorometric enzyme methods. Methods Enzymol 1969;13:434-513.
23. Manteifel V, Bakeeva L, Karu T. Ultrastructural changes in chondriome of human lymphocytes after irradiation with He-Ne laser: appearance of giant mitochondria. J Photochem Photobiol B 1997;38:25-30.
24. DiMauro S. Mitochondrial diseases. Biochim Biophys Acta 2004;1658:80-88.
25. Figarella-Branger E, Pellissier JF, Scheiner C, et al. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 1992;108:105-113.
26. Ades LC, Gedeon AK, Wilson MJ, et al. Barth syndrome: clinical features and confirmation of gene localization to distal Xq28. Am J Med Genet 1993;45:327-334.
27. Christodoulou J, McInnes RR, Jay V, et al. Barth syndrome: clinical observation and genetic linkage studies. Am J Med Genet 1994;50:255-264.
28. Ma L, Vaz FM, Gu Z, et al. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Δ mutant. J Biol Chem 2004;279:44394-44399.
29. Wirtz KWA. Phospholipid transfer proteins revisited. Biochem J 1997;324:353-360.
30. 2+ responses. Science 1998;280:1763-1766.