Results 51 to 60 of about 1,210,543 (141)

The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 38-50, January 2022., 2022
Abstract Deficiency of the transacylase tafazzin due to loss of function variants in the X‐chromosomal TAFAZZIN gene causes Barth syndrome (BTHS) with severe neonatal or infantile cardiomyopathy, neutropenia, myopathy, and short stature. The condition is characterized by drastic changes in the composition of cardiolipins, a mitochondria‐specific class ...
Gregor Oemer, Jakob Koch, Yvonne Wohlfarter, Katharina Lackner, Rita E. M. Gebert, Stephan Geley, Johannes Zschocke, Markus A. Keller   +7 more
wiley   +1 more source

Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts

Biology, 2023
Barth Syndrome (BTHS) is a rare X-linked genetic disease caused by a mutation in the TAFAZZIN gene, which codes for the protein tafazzin involved in cardiolipin remodeling.
Hana M. Zegallai, Kangmin Duan, Grant M. Hatch   +2 more
doaj   +1 more source

N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics

Scientific Reports, 2022
Barth syndrome (BTHS) is caused by mutations in the TAZ gene encoding the cardiolipin remodeling enzyme, Tafazzin. The study objective was to quantitatively examine growth characteristics and mitochondrial morphology of transformed lymphoblast cell lines
John Z. Chan, Maria F. Fernandes, Klaudia E. Steckel, Ryan M. Bradley, Ashkan Hashemi, Mishi R. Groh, German Sciaini, Ken D. Stark, Robin E. Duncan   +8 more
doaj   +1 more source

Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome

Frontiers in Molecular Biosciences, 2022
Barth syndrome (BTHS, OMIM 302060) is a genetic disorder caused by variants of the TAFAZZIN gene (G 4.5, OMIM 300394). This debilitating disorder is characterized by cardio- and skeletal myopathy, exercise intolerance, and neutropenia.
Zhuqing Liang, Michael W. Schmidtke, Miriam L. Greenberg   +2 more
doaj   +1 more source

Phospholipid abnormalities in children with Barth syndrome [PDF]

, 2003
ObjectivesWe sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype.BackgroundBarth syndrome typically includes cardiomyopathy, skeletal myopathy ...
Feigenbaum, Annette, Wanders, Ronald J. A., Schieble, Thomas, Schlame, Michael, Kelley, Richard I., Blanck, Thomas J.J, Heerdt, Paul M., Kelley, Richard I, Towbin, Jeffrey A., Blanck, Thomas J. J., Heerdt, Paul M, Towbin, Jeffrey A, Wanders, Ronald J.A, DiMauro, Salvatore   +13 more
core   +1 more source

Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice

Scientific Reports, 2022
Barth Syndrome (BTHS), a genetic disease associated with early-onset cardioskeletal myopathy, is caused by loss-of-function mutations of the TAFAZZIN gene, which is responsible for remodeling the mitochondrial phospholipid cardiolipin (CL).
Silvia Russo, Domenico De Rasmo, Anna Signorile, Angela Corcelli, Simona Lobasso   +4 more
doaj   +1 more source

Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites

Frontiers in Pediatrics, 2022
Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features.
Xuliang Zhao, Xu Li, Weiwei Sun, Jian-an Jia, Min Yu, Ruixia Tian   +5 more
doaj   +1 more source

Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies [PDF]

, 2015
Studying monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combine patient-derived and genetically engineered iPSCs with tissue engineering to elucidate the pathophysiology ...
Li, Kai, He, Aibin, Kelley, Richard I., Kulik, Wim, Pasqualini, Francesco, Wang, Gang, Roberts, Amy E., Yuan, Hongyan, Church, George, Zhang, Donghui, Wang, Jiwu, Parker, Kevin, Chien, Kenneth R., Murry, Charles E., Vaz, Frédéric M., Wanders, Ronald J. A., McCain, Megan L., Geva, Judith, Pu, William, Ma, Qing, Ding, Jian, Wang, Da-zhi, Chen, Jinghai, Laflamme, Michael A., Jiang, Dawei, Zangi, Lior, Yang, Luhan, Agarwal, Ashutosh   +27 more
core   +1 more source

Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy

, 2021
Barth syndrome (BTHS) is caused by mutations of the gene encoding tafazzin, which catalyzes maturation of mitochondrial cardiolipin and often manifests with systolic dysfunction during early infancy.
Carlein, Christopher, Kuhn, Michaela, van der Laan, Martin, Dudek, Jan, Sequeira, Vasco, Münker, Kai, von der Malsburg, Karina, Maack, Christoph, Böhm, Michael, Schiuma, Anna-Florentine, Kohlhaas, Michael, Bertero, Edoardo, Prates Roma, Leticia, Brune, Carolin, Rehling, Peter, Schwemmlein, Julia, Kappl, Reinhard, Kutschka, Ilona, Müller, Andreas, Nickel, Alexander, Hohl, Mathias, Kazakov, Andrey, Abeßer, Marco, Schuh, Kai, von der Malsburg, Alexander, Hoth, Markus, Atighetchi, Sarah, Laufs, Ulrich   +27 more
core   +1 more source

Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome

Disease Models & Mechanisms, 2017
Cardiolipin (CL) is a diglycerol phospholipid mostly found in mitochondria where it optimizes numerous processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase tafazzin.
Maxence de Taffin de Tilques, Déborah Tribouillard-Tanvier, Emmanuel Tétaud, Eric Testet, Jean-Paul di Rago, Jean-Paul Lasserre   +5 more
doaj   +1 more source