Výsledky vyhledávání - "Fredoen, Valianpour"

Akademický článek

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

Autor: Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz

Publikováno v: Journal of Lipid Research, Vol 46, Iss 6, Pp 1182-1195 (2005)

Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL). Previously, we discovered that the yeast disruptant of the TAZ ortholog in Saccharo

Externí odkaz: https://doaj.org/article/c824b2a692ff4f359af39127a00e106a

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Akademický článek

Evidence for two enzymatic pathways for ω-oxidation of docosanoic acid in rat liver microsomes

Autor: Robert-Jan Sanders, Rob Ofman, Fredoen Valianpour, Stephan Kemp, Ronald J.A. Wanders

Publikováno v: Journal of Lipid Research, Vol 46, Iss 5, Pp 1001-1008 (2005)

We studied the ω-oxidation of docosanoic acid (C22:0) in rat liver microsomes. C22:0 and 22-hydroxy-docosanoic acid (ω-hydroxy-C22:0) were used as substrates, and the reaction products were analyzed by electrospray ionization mass spectrometry. In

Externí odkaz: https://doaj.org/article/ff9ee6cf67344b81b4d5550e770d8c18

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Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

Autor: Voula Mitsakos, Frédéric M. Vaz, David R. Thorburn, Dimitri Schlemmer, Paul G Ekert, Jeffrey A. Towbin, Fredoen Valianpour, Peter G. Barth, Arnold Munnich, Juliet M. Taylor, Ronald Ja Wanders

Publikováno v: Journal of lipid research, 46(6), 1182-1195. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, Vol 46, Iss 6, Pp 1182-1195 (2005)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a0031a69d3cfd7fa7674b858b5fb3df
https://doi.org/10.1194/jlr.m500056-jlr200

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Quantification of Free Sialic Acid in Urine by HPLC–Electrospray Tandem Mass Spectrometry: A Tool for the Diagnosis of Sialic Acid Storage Disease

Autor: Fredoen Valianpour, J. G. M. Huijmans, Marinus Duran, N. G. G. M. Abeling, Willem Kulik

Publikováno v: Clinical chemistry, 50(2), 403-409. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 50(2), 403-409. American Association for Clinical Chemistry Inc.

Background: Sialic acid storage diseases (SSDs) are severe autosomal recessive neurodegenerative disorders caused by a transport defect across the lysosomal membrane, which leads to accumulation of sialic acid in tissues, fibroblasts, and urine. Defe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b683182e0b94abaf4873c83a7e287b
https://doi.org/10.1373/clinchem.2003.027169

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

Autor: Marinus Duran, Valerie M. Bowen, Frédéric M. Vaz, Ronald J.A. Wanders, Peter G. Barth, Fredoen Valianpour, Jan Lam

Publikováno v: American journal of medical genetics. Part A. (4):349-354

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional impairments and 3-methylglutaconic aciduria that maps to Xq28. The associated G4.5 or TAZ gene has been identified but the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bea91569d4b94ac8ac4d4e08bd5521a
https://doi.org/10.1002/ajmg.a.20660

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Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome

Autor: Shuliang Chen, Zhiming Gu, Miriam L. Greenberg, Frédéric M. Vaz, Gertjan Hakkaart, Ronald Ja Wanders, Fredoen Valianpour

Publikováno v: Molecular Microbiology. 51:149-158

In eukaryotic cells, the acyl species of the phospholipid cardiolipin (CL) are more highly unsaturated than those of the other membrane phospholipids. Defective acylation of CL with unsaturated fatty acids and decreased total CL are associated with B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b68b5f8f0ee6f5d15c4eaa87e2948a3a
https://doi.org/10.1046/j.1365-2958.2003.03802.x

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Only One Splice Variant of the Human TAZ Gene Encodes a Functional Protein with a Role in Cardiolipin Metabolism

Autor: Riekelt H. Houtkooper, Ronald Ja Wanders, Peter G. Barth, Fredoen Valianpour, Frédéric M. Vaz

Publikováno v: Journal of biological chemistry, 278(44), 43089-43094. American Society for Biochemistry and Molecular Biology Inc.

Barth syndrome (BTHS) is an X-linked recessive disorder caused by mutations in the TAZ gene and is characterized by cardiomyopathy, short stature, neutropenia, and 3-methylglutaconic aciduria. Recently it was found that BTHS patients exhibit a profou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8bbd023d867eda8568a542782e8e1b4
https://doi.org/10.1074/jbc.m305956200

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Substrate preference of stress-activated phospholipase D in Chlamydomonas and its contribution to PA formation

Autor: Fredoen Valianpour, Teun Munnik, Albert H. van Gennip, Steven A. Arisz

Publikováno v: The Plant Journal. 34:595-604

Summary In response to various environmental stress conditions, plants rapidly form the intracellular lipid second messenger phosphatidic acid (PA). It can be generated by two independent signalling pathways via phospholipase D (PLD) and via phosphol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d61e4766f79334213fe38f99742aad94
https://doi.org/10.1046/j.1365-313x.2003.01750.x

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Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

Autor: Peter G. Barth, A. H. van Gennip, Frédéric M. Vaz, H. Overmars, Fredoen Valianpour, Ron J. A. Wanders

Publikováno v: Journal of Lipid Research, Vol 44, Iss 3, Pp 560-566 (2003)
Journal of lipid research, 44(3), 560-566. American Society for Biochemistry and Molecular Biology Inc.

The object of this study was to investigate whether the levels of cardiolipin in cultured skin fibroblasts of patients with Barth syndrome (BTHS) can be restored by addition of linoleic acid to growth media. To this end, fibroblasts from controls and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d45575f9a484a99c801a15364080367f
https://doi.org/10.1194/jlr.m200217-jlr200

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Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

Autor: Lia E.M van Lint, Stephan Kemp, Jacqueline J.M Selhorst, Albert H. van Gennip, Ronald J.A. Wanders, Fredoen Valianpour

Publikováno v: Molecular genetics and metabolism, 79(3), 189-196. Academic Press Inc.

Elevated levels of very long-chain fatty acids (VLCFA) in plasma and tissues are the biochemical hallmark for patients with X-linked adrenoleukodystrophy (X-ALD). Current methods for the determination of VLCFA levels are laborious and time-consuming.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83db8235c243be2734030842bb5d624f
https://doi.org/10.1016/s1096-7192(03)00098-2

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