Results 41 to 50 of about 3,950 (204)

The Basis for Acyl Specificity in the Tafazzin Reaction [PDF]

Journal of Biological Chemistry, 2017
Tafazzin is a mitochondrial enzyme that transfers fatty acids from phospholipids to lysophospholipids. Mutations in tafazzin cause abnormal molecular species of cardiolipin and the clinical phenotype of Barth syndrome. However, the mechanism by which tafazzin creates acyl specificity has been controversial.
Michael, Schlame, Yang, Xu, Mindong, Ren
openaire   +2 more sources

Studying Lipid-Related Pathophysiology Using the Yeast Model

Frontiers in Physiology, 2021
Saccharomyces cerevisiae, commonly known as baker’s yeast, is one of the most comprehensively studied model organisms in science. Yeast has been used to study a wide variety of human diseases, and the yeast model system has proved to be an especially ...
Tyler Ralph-Epps, Chisom J. Onu, Linh Vo, Michael W. Schmidtke, Anh Le, Miriam L. Greenberg   +5 more
doaj   +1 more source

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes

Disease Models & Mechanisms
Erika Yazawa, Erin M. Keating, Suya Wang, Mason E. Sweat, Qing Ma, Yang Xu, Michael Schlame, William T. Pu   +7 more
doaj   +2 more sources

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

The enigmatic role of tafazzin in cardiolipin metabolism

Biochimica et Biophysica Acta (BBA) - Biomembranes, 2009
The mitochondrial phospholipid cardiolipin plays an important role in cellular metabolism as exemplified by its involvement in mitochondrial energy production and apoptosis. Following its biosynthesis, cardiolipin is actively remodeled to achieve its final acyl composition.
HOUTKOOPER RH, TURKENBURG M, POLL THE BT, KARALL D, PÉREZ CERDÁ C, MORRONE, AMELIA, MALVAGIA S, WANDERS RJ, KULIK W, VAZ F.M.   +9 more
openaire   +3 more sources

Characterization of Tafazzin Splice Variants from Humans and Fruit Flies [PDF]

Journal of Biological Chemistry, 2009
The tafazzin gene encodes a phospholipid-lysophospholipid transacylase involved in cardiolipin metabolism, but it is not known why it forms multiple transcripts as a result of alternative splicing. Here we studied the intracellular localization, enzymatic activity, and metabolic function of four isoforms of human tafazzin and three isoforms of ...
Yang, Xu, Shali, Zhang, Ashim, Malhotra, Irit, Edelman-Novemsky, Jinping, Ma, Antonina, Kruppa, Carolina, Cernicica, Steven, Blais, Thomas A, Neubert, Mindong, Ren, Michael, Schlame   +10 more
openaire   +2 more sources

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

Defective Mitochondrial Cardiolipin Remodeling Dampens HIF-1α Expression in Hypoxia

Cell Reports, 2018
Summary: Mitochondria fulfill vital metabolic functions and act as crucial cellular signaling hubs, integrating their metabolic status into the cellular context.
Arpita Chowdhury, Abhishek Aich, Gaurav Jain, Katharina Wozny, Christian Lüchtenborg, Magnus Hartmann, Olaf Bernhard, Martina Balleiniger, Ezzaldin Ahmed Alfar, Anke Zieseniss, Karl Toischer, Kaomei Guan, Silvio O. Rizzoli, Britta Brügger, Andrè Fischer, Dörthe M. Katschinski, Peter Rehling, Jan Dudek   +17 more
doaj   +1 more source

Mitochondrial membrane lipid remodeling in pathophysiology: A new target for diet and therapeutic interventions [PDF]

, 2013
Mitochondria are arbiters in the fragile balance between cell life and death. These organelles present an intricate membrane system, with a peculiar lipid composition and displaying transverse as well as lateral asymmetry.
Jurado, A. S., Monteiro, João P., Oliveira, Paulo J.   +2 more
core   +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