Results 11 to 20 of about 663 (143)

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.
Poll-The, Bwee Tien, Kulik, Willem, Houtkooper, Riekelt H., Morrone, Amelia, Turkenburg, Marjolein, Malvagia, Sabrina, Wanders, Ronald J., Karall, Daniela, Vaz, Frederic M., Perez-Cerda, Celia   +9 more
core   +4 more sources

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

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   +2 more sources

Barth syndrome mutations that cause tafazzin complex lability [PDF]

Journal of Cell Biology, 2011
Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1.
Kevin Whited, Steven M. Claypool, Srijumnong, Santi, Koehler, Carla M, Whited, Kevin, Han, Xianlin, Carla M. Koehler, Claypool, Steven M, Santi Srijumnong, Xianlin Han   +9 more
core   +6 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 [PDF]

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   +2 more sources

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome

Frontiers in Cardiovascular Medicine
BackgroundBarth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in TAFAZZIN, which encodes a mitochondrial protein essential for ...
Emma S. Singer, Emma S. Singer, Janine Smith, Janine Smith, Janine Smith, Richard Lin, Richard Lin, Ansley M. Morrish, Ansley M. Morrish, Sean Lal, Claire Irving, Claire Irving, Charlene Casey, Ingrid King, Robert G. Weintraub, Robert G. Weintraub, Robert G. Weintraub, Richard D. Bagnall, Richard D. Bagnall   +18 more
doaj   +2 more sources

Aim24 and MICOS modulate respiratory function, tafazzin-related cardiolipin modification and mitochondrial architecture [PDF]

eLife, 2014
Structure and function of mitochondria are intimately linked. In a search for components that participate in building the elaborate architecture of this complex organelle we have identified Aim24, an inner membrane protein. Aim24 interacts with the MICOS
Max Emanuel Harner, Ann-Katrin Unger, Toshiaki Izawa, Dirk M Walther, Cagakan Özbalci, Stefan Geimer, Fulvio Reggiori, Britta Brügger, Matthias Mann, Benedikt Westermann, Walter Neupert   +10 more
doaj   +2 more sources

Substantial Decrease in Plasmalogen in the Heart Associated with Tafazzin Deficiency [PDF]

Biochemistry, 2018
Tafazzin is the mitochondrial enzyme that catalyzes transacylation between a phospholipid and a lysophospholipid in remodeling. Mutations in tafazzin cause Barth syndrome, a potentially life-threatening disease with the major symptom being cardiomyopathy.
Yang Xu (178421), Tomohiro Kimura (130865), Atsuko K. Kimura (5043026), Richard M. Epand (311101), Mindong Ren (5043023), Bob Berno (2412337), Michael Schlame (5043020)   +6 more
core   +3 more sources

Effects of Cannabidiol on TAFAZZIN‐Deficient B‐Lymphoblastoid Cells

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
Deficiency of the cardiolipin remodeling enzyme TAFAZZIN causes Barth syndrome (BTHS), resulting in cardiolipin loss, monolysocardiolipin (MLCL) accumulation, and electron transport chain (ETC) abnormalities in B‐lymphoblastoid cells. Effects of the non‐psychotropic phytocannabinoid cannabidiol (CBD) were examined on B‐lymphoblastoid cells from ...
John Z. Chan, Antonia N. Berdeklis, Ming Rong Liu, Fasih A. Rahman, Michelle V. Tomczewski, Mackenzie Q. Graham, Musa Musa, Alex D. Cocco, Ken D. Stark, Joe Quadrilatero, Robin E. Duncan   +10 more
wiley   +3 more sources

Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy

Frontiers in Molecular Medicine
Barth Syndrome (BTHS) is a rare X-linked disease, characterized clinically by cardiomyopathy, skeletal myopathy, neutropenia, and growth retardation. BTHS is caused by mutations in the phospholipid acyltransferase tafazzin (Gene: TAFAZZIN, TAZ). Tafazzin
Malte Hachmann, Güntas Gülcan, Ranjithkumar Rajendran, Marcus Höring, Gerhard Liebisch, Akash Bachhuka, Michael Kohlhaas, Christoph Maack, Christoph Maack, Süleyman Ergün, Jan Dudek, Srikanth Karnati   +11 more
doaj   +2 more sources

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome

Journal of Cachexia, Sarcopenia and Muscle
Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function.
Catalina Matias, Paige L. Snider, Elizabeth A. Sierra Potchanant, Joshua R. Huot, Rahul Raghav, Michael T. Chin, Simon J. Conway, Jeffrey J. Brault   +7 more
doaj   +2 more sources