Results 11 to 20 of about 2,732 (148)

Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice. [PDF]

Frontiers in Physiology, 2013
The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers, Yan eHuang, Arnold W Strauss, Zaza eKhuchua   +3 more
doaj   +2 more sources

Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy [PDF]

Scientific Reports
Barth syndrome is an X-linked syndrome characterized by cardiomyopathy, skeletal myopathy, and neutropenia. This life-threatening disorder results from loss-of-function mutations in TAFAZZIN, which encodes a phospholipid-lysophospholipid transacylase ...
Usua Oyarbide, Rebecca A. Anderson, Igor Radzikh, Jillian V. Kodger, Akshay S. Patil, Morgan Staton, Anny Mulya, Genevieve M. Crane, Silvio Litovsky, Yana Sandlers, Seth J. Corey   +10 more
doaj   +2 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

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

A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report [PDF]

Frontiers in Pediatrics
IntroductionBarth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the TAFAZZIN gene, located on the X chromosome. This gene codes for the protein tafazzin, which is involved in the metabolism of the mitochondrial phospholipid ...
Michał Krawiec, Joanna Śliwka, Szymon Pawlak, Michał Kapałka, Paulina Hamerling, Weronika Grzywacz, Wiktoria Hawel, Gabriela Skórska, Dorota Piekutowska-Abramczuk, Tomasz Hrapkowicz   +9 more
doaj   +2 more sources

Diaphragmatic Mitochondrial Myopathy in a Patient-Derived Mouse Model of Barth Syndrome [PDF]

Journal of Developmental Biology
Barth syndrome (BTHS) is a rare, X-linked genetic disorder caused by mutations in the enzyme TAFAZZIN (TAZ), resulting in insufficient cardiolipin (CL) remodeling and mitochondrial dysfunction.
Kristen Tentler, Paige L. Snider, Catalina Matias, Jeffrey J. Brault, Simon J. Conway   +4 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

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

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation [PDF]

Frontiers in Cardiovascular Medicine
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria.
Mingxuan Che, Mingxuan Che, Fuhai Li, Yaning Jia, Yaning Jia, Qingzheng Liu, Jian Hu, Jidong Zhang, Shiguo Liu, Shiguo Liu   +9 more
doaj   +2 more sources

Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]

Genes (Basel)
Barth syndrome (BTHS) is inherited through an X-linked pattern. The gene is located on Xq28. Male individuals who inherit the TAFAZZIN pathogenic variant will have the associated condition, while female individuals who inherit the TAFAZZIN pathogenic ...
Sergi CM.
europepmc   +2 more sources