Results 31 to 40 of about 6,899 (166)

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

Barth syndrome in an adult patient: an overview of the problem and case report. A review [PDF]

Терапевтический архив
Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications.
Marina D. Muksinova, Yulia F. Osmolovskaya, Irina V. Leontyeva, Mareta A. Galaeva, Olga V. Stukalova, Allan G. Beniashvili, Alfiya A. Safiullina, Igor V. Zhirov, Sergey N. Tereshchenko   +8 more
doaj   +1 more source

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

Mitochondrial dysfunctions in barth syndrome [PDF]

IUBMB Life, 2019
ABSTRACTBarth syndrome (BTHS) is a rare multisystemic genetic disorder caused by mutations in the TAZ gene. TAZ encodes a mitochondrial enzyme that remodels the acyl chain composition of newly synthesized cardiolipin, a phospholipid unique to mitochondrial membranes.
Sagnika Ghosh, Donna M. Iadarola, Writoban Basu Ball, Vishal M. Gohil   +3 more
openaire   +2 more sources

A rare clinical association: Barth syndrome and cystic fibrosis

The Turkish Journal of Pediatrics, 2019
Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II.
Elif Sağ, Tülay Kamaşak, Gülay Kaya, Murat Çakır   +3 more
doaj   +1 more source

Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome

Prague Medical Report, 2013
Barth syndrome is an X-linked recessive disorder that is caused by mutations in  Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia,
S. Mazurová, M. Tesařová, M. Magner, H. Houšťková, H. Hansíková, J. Augustínová, V. Tomek,  A. Vondráčková, J. Zeman, Tomáš Honzík   +9 more
doaj   +1 more source

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissioned Barth Syndrome Service

JMIR Research Protocols, 2021
BackgroundBarth syndrome is a rare, life-threatening, X-linked recessive genetic disease that predominantly affects young males and is caused by abnormal mitochondrial lipid metabolism. Currently, there is no definitive treatment for Barth syndrome other
Dabner, Lucy, Pieles, Guido E, Steward, Colin G, Hamilton-Shield, Julian P, Ness, Andrew R, Rogers, Chris A, Bucciarelli-Ducci, Chiara, Greenwood, Rosemary, Ellis, Lucy, Sheehan, Karen, Reeves, Barnaby C   +10 more
doaj   +1 more source

Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome[S]

Journal of Lipid Research, 2013
Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was generated to deconvolute the complex bioenergetic phenotype of this disease. To
Michael A. Kiebish, Kui Yang, Xinping Liu, David J. Mancuso, Shaoping Guan, Zhongdan Zhao, Harold F. Sims, Rebekah Cerqua, W. Todd Cade, Xianlin Han, Richard W. Gross   +10 more
doaj   +1 more source

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

Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome

Journal of Inflammation, 2012
Background Barth Syndrome (BTHS) is a serious X-linked genetic disorder associated with mutations in the tafazzin gene (TAZ, also called G4.5). The multi-system disorder is primarily characterized by the following pathologies: cardiac and skeletal ...
Wilson Lori D, Al-Majid Sadeeka, Rakovski Cyril S, MD Christina D   +3 more
doaj   +1 more source