Results 41 to 50 of about 1,210,144 (112)

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

Genotype–Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir, Atif Hussain Sarwar, Rameen Nazar, Sarim Hassan Shahab, Sumera Manan, Hafsa Rafique, Ahsan Talal Khan, Abdalhakim Shubietah, Syed Rafay Hussain Zaidi, Behram Khan   +9 more
wiley   +1 more source

Barth syndrome : a mutational analysis of the BTHS gene [PDF]

, 1999
Barth syndrome is an X-linked recessive disorder affecting only males. The clinical features of Barth syndrome include cardiomyopathy, endocardial fibroelastosis, neutropenia, hypocholesterolemia, growth retardation, short stature and cyclic acidurias ...
Elliot, Ann M.
core  

Cardiolipin in Barth Syndrome [PDF]

, 2017
Barth Syndrome (BTHS) is a rare genetic disorder caused by mutations in the gene that encodes tafazzin, a protein whose sole function is to remodel the mitochondrial phospholipid cardiolipin (CL). Despite comprising a small proportion of the body’s total
Ikon, Nikita
core   +1 more source

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

Orphanet Journal of Rare Diseases, 2023
Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +6 more
doaj   +1 more source

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
Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
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