Results 41 to 50 of about 41,331 (231)

Deficiency in Cardiolipin Reduces Doxorubicin-Induced Oxidative Stress and Mitochondrial Damage in Human B-Lymphocytes. [PDF]

PLoS ONE, 2016
Cardiolipin (CL) is an inner mitochondrial membrane phospholipid which plays an important role in mitochondrial function. Perturbation in CL biosynthesis alters mitochondrial bioenergetics causing a severe genetic disorder commonly known as Barth ...
Baikuntha Aryal, V Ashutosh Rao
doaj   +1 more source

Late diagnosis of Barth syndrome in a 39‐year‐old patient with non‐compaction cardiomyopathy and neutropenia

ESC Heart Failure, 2020
Barth syndrome is a rare X‐linked recessive disorder characterized by a broad spectrum of clinical features including cardiac and skeletal myopathy, neutropenia, exercise intolerance, and growth delay.
Andreas Seitz, Annely Hinck, Raffi Bekeredjian, Udo Sechtem   +3 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

Defining functional classes of Barth syndrome mutation in humans [PDF]

, 2016
The X-linked disease Barth syndrome (BTHS) is caused by mutations in TAZ; TAZ is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin.
Claypool, Steven M., Galbraith, Laura, Gottlieb, Eyal, Herndon, Jenny, Koehler, Carla M., Lu, Ya-Lin, Lu, Ya-Wen, Luyf, Angela, McCaffery, J.Michael, Pras-Raves, Mia, Van Kampen, Antoine, Vaz, Frederic M., Vervaart, Martin   +12 more
core   +2 more sources

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

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome [PDF]

, 2017
Barth syndrome (BTHS) is an X‐linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected
Altschuld, American College of Sports Medicine, Bahi, Barth, Bashir, Bione, Bissler, Cade, Cade, Chance, Chance, Conway, Edwards, El-Sharkawy, Gomez, Gonzalvez, Hiona, Hom, Hudsmith, Ingwall, Kemp, Kemp, Kemp, Kemp, Kushmerick, Lang, Lanza, Lanza, Larson-Meyer, Layec, Liu, Matthews, Meyer, Meyer, Minotti, Naressi, Nascimben, Neubauer, Powers, Ratel, Roussel, Sapega, Schlame, Sgobbo, Smith, Spencer, Spencer, Spoladore, Takahashi, Taylor, Taylor, Thaveau, Thompson, Tonson, Vanhamme, Wang, Wasserman, Waters, Xu, Yao, Zhang, Zoll   +61 more
core   +2 more sources

CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]

, 2020
The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I, Jacinto, Filipe, Link, Wolfgang   +2 more
core   +1 more source

Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome

Cells, 2020
Tafazzin is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation.
Patrice X. Petit, Hector Ardilla-Osorio, Lucile Penalvia, Nathan E. Rainey   +3 more
doaj   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing.

PLoS ONE, 2023
Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Kristin Richardson, Robert Wessells
doaj   +1 more source