Results 101 to 110 of about 7,513 (190)

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

, 2003
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.
Vaz, F. M., Barth, P. G., Valianpour, F., Wanders, R. J. A., van Gennip, A. H., Overmars, H.   +5 more
core   +1 more source

Your Heart on a Chip: iPSC-Based Modeling of Barth-Syndrome-Associated Cardiomyopathy

, 2014
Disease-specific induced pluripotent stem cells (iPSCs) are invaluable tools for studying genetic disorders in a dish. A recent paper by Wang et al.
Zweigerdt, Robert, Robert Zweigerdt, Gruh, Ina, Ina Gruh, Ulrich Martin, Martin, Ulrich   +5 more
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Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy

Scientific Reports
Barth syndrome is an X-linked syndrome characterized by cardiomyopathy, skeletal myopathy, and neutropenia. This life-threatening disorder results from loss-of-function mutations in TAFAZZIN, which encodes a phospholipid-lysophospholipid transacylase ...
Usua Oyarbide, Rebecca A. Anderson, Igor Radzikh, Jillian V. Kodger, Akshay S. Patil, Morgan Staton, Anny Mulya, Genevieve M. Crane, Silvio Litovsky, Yana Sandlers, Seth J. Corey   +10 more
doaj   +1 more source

Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression

Frontiers in Genetics, 2022
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +1 more source

The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome

, 2004
Barth syndrome is a genetic disorder that is caused by different mutations in the TAZ gene G4.5. The yeast gene TAZ1 is highly homologous to human TAZ, and the taz1Delta mutant has phospholipid defects similar to those observed in Barth syndrome cells ...
Ma, Lining, Wanders, Ronald J. A., Gu, Zhiming, Vaz, Frederic M., Greenberg, Miriam L.   +4 more
core   +1 more source

The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome

, 2017
The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (TazKD), a mouse model of Barth syndrome that ...
Glukhov, Alexander V., Schafer, Caitlin, Moore, Victoria, Alexander V. Glukhov, Huang, Yan, Powers, Corey, James, Jeanne F., Sabzali Javadov, Khuchua, Zaza, Mindong Ren, Corey Powers, Vaz, Frédéric M., Jefferies, John L., Yan Huang, Ren, Mindong, Caitlin Schafer, Strauss, Arnold W., Frédéric M. Vaz, Jeanne F. James, Zaza Khuchua, Arnold W. Strauss, Colin K. L. Phoon, Phoon, Colin K. L., Victoria Moore, Javadov, Sabzali, John L. Jefferies   +25 more
core   +1 more source

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

, 2015
Infantile-onset skeletal myopathy Barth syndrome (OMIM #302060) is caused by mutations in the X-linked TAZ gene and hence usually manifests itself only in hemizygous males. Confirmatory testing is provided by mutational analysis of the TAZ gene and/or by
Serena Gasperini, Cinzia Gellera, Frédéric M Vaz, Morrone, Amelia, Cavicchi, Catia, Amelia Morrone, Gellera, Cinzia, Natacci, Federica, Cooper, David Neil, Spaccini, Luigina, Donati, Maria A., Luigina Spaccini, Vaz, Frédéric M., Silvia Funghini, Ferri, Lorenzo, Donati, Maria A, Renzo Guerrini, Pensato, Viviana, Funghini, Silvia, Maria A Donati, Guerrini, Renzo, Vaz, Frédéric M, Catia Cavicchi, Viviana Pensato, Federica Natacci, Lorenzo Ferri, Gasperini, Serena, Cooper, David N., David N Cooper   +28 more
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Barth syndrome cardiomyopathy

, 2018
Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Dudek, Jan, Maack, Christoph
openaire   +1 more source

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome. [PDF]

Basic Res Cardiol, 2023
Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek J.   +24 more
europepmc   +1 more source

BARTH SYNDROME – X-LINKED CARDIOMYOPATHY WITH NEUTROPENIA

, 2012
Opisujemo dijete s Barthovim sindromom. Uz pozitivnu obiteljsku anamnezu (X-vezana bolest) i osnovne kliničke simptome (teška dilatacijska kardiomiopatija, generalizirana miopatija s hipotonijom) dijete ima i karakteristične laboratorijske nalaze ...
Bartoniček, Dorotea, Vidaković, Marija, Kniewald, Hrvoje, Malčić, Ivan, Dilber, Daniel   +4 more
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