Results 81 to 90 of about 6,529 (164)

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

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   +1 more source

Corrigendum: 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
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

Barth syndrome cardiomyopathy

, 2018
Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Dudek, Jan, Maack, Christoph
openaire   +1 more source

Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome

Disease Models & Mechanisms, 2022
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells   +5 more
doaj   +1 more source

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome. [PDF]

Basic Res Cardiol, 2023
Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek J.   +24 more
europepmc   +1 more source

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome. [PDF]

J Cachexia Sarcopenia Muscle
Matias C, Snider PL, Sierra Potchanant EA, Huot JR, Raghav R, Chin MT, Conway SJ, Brault JJ.   +7 more
europepmc   +1 more source

Barth Syndrome

Pediatric Cardiology and Cardiac Surgery, 2016
openaire   +2 more sources

Correction to: Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome. [PDF]

Stem Cell Rev Rep
Sierra Potchanant EA, Capitano ML, Edwards DM, Ramdas B, Cooper S, Ropa J, Pay SL, Sheth A, Snider PL, Vernon HJ, Tran NT, Kapur R, Conway SJ.   +12 more
europepmc   +1 more source

Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome. [PDF]

Nat Metab, 2023
Kagan VE, Tyurina YY, Mikulska-Ruminska K, Damschroder D, Vieira Neto E, Lasorsa A, Kapralov AA, Tyurin VA, Amoscato AA, Samovich SN, Souryavong AB, Dar HH, Ramim A, Liang Z, Lazcano P, Ji J, Schmidtke MW, Kiselyov K, Korkmaz A, Vladimirov GK, Artyukhova MA, Rampratap P, Cole LK, Niyatie A, Baker EK, Peterson J, Hatch GM, Atkinson J, Vockley J, Kühn B, Wessells R, van der Wel PCA, Bahar I, Bayir H, Greenberg ML.   +34 more
europepmc   +1 more source

Letter to the Editor: CRISPR-based gene editing for cardiac protection in Barth syndrome. [PDF]

Ann Med Surg (Lond)
Abedin ZU, Waggan AI, Khan E, Suleman MU, Tabassum SN.   +4 more
europepmc   +1 more source