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Showing 1 to 5 of 5 for “"Barth syndrome"”.

  1. Identification of cellular functions of cardiolipin as physiological modifiers of barth syndrome

    … membrane. Perturbation of CL metabolism leads to Barth syndrome (BTHS), a life threatening genetic disorder. I utilized genetic, biochemical and cell biological approaches in yeast to elucidate the cellular functions of CL. Understanding the functions of CL is expected to shed light on the …

    wayne-thes Repository record for Identification of cellular functions of cardiolipin as physiological modifiers of barth syndrome (opens in a new tab)

  2. The role of cardiolipin in the regulation of mitochondria-dependent apoptosis

    … is a mitochondrial enzyme, which is mutated in Barth syndrome (BTHS) and is involved in the maturation process of CL. In BTHS, loss of tafazzin activity results in a decrease in mature CL, making it a good model to investigate the role of CL in apoptosis. Using BTHS patients-derived …

    glasgow Repository record for The role of cardiolipin in the regulation of mitochondria-dependent apoptosis (opens in a new tab)

  3. The Role Of Cardiolipin In Iron Homeostasis And Glutathione Metabolism

    … biosynthesis causes the severe genetic disorder Barth syndrome.</p> <p>In order to fully understand the cellular response to the loss of CL, genome-wide expression profiling was carried out in the yeast CL mutant crd1Δ. The results show that the loss of CL in this mutant leads to increased …

    wayne-thes Repository record for The Role Of Cardiolipin In Iron Homeostasis And Glutathione Metabolism (opens in a new tab)