Results 41 to 50 of about 505 (112)

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

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 29-37, January 2022., 2022
Abstract Barth syndrome is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and neutropenia, caused by deleterious variants in TAFAZZIN. This gene encodes a phospholipid‐lysophospholipid transacylase that is required for the remodeling of the mitochondrial phospholipid cardiolipin (CL).
Frédéric M. Vaz, Henk van Lenthe, Martin A. T. Vervaart, Femke S. Stet, Johanne H. Klinkspoor, Hilary J. Vernon, Susan M. I. Goorden, Riekelt H. Houtkooper, Willem Kulik, Ronald J. A. Wanders   +9 more
wiley   +1 more source

Mechano‐energetic aspects of Barth syndrome

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 82-98, January 2022., 2022
Abstract Energy‐demanding organs like the heart are strongly dependent on oxidative phosphorylation in mitochondria. Oxidative phosphorylation is governed by the respiratory chain located in the inner mitochondrial membrane. The inner mitochondrial membrane is the only cellular membrane with significant amounts of the phospholipid cardiolipin, and ...
Jan Dudek, Christoph Maack
wiley   +1 more source

The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 38-50, January 2022., 2022
Abstract Deficiency of the transacylase tafazzin due to loss of function variants in the X‐chromosomal TAFAZZIN gene causes Barth syndrome (BTHS) with severe neonatal or infantile cardiomyopathy, neutropenia, myopathy, and short stature. The condition is characterized by drastic changes in the composition of cardiolipins, a mitochondria‐specific class ...
Gregor Oemer, Jakob Koch, Yvonne Wohlfarter, Katharina Lackner, Rita E. M. Gebert, Stephan Geley, Johannes Zschocke, Markus A. Keller   +7 more
wiley   +1 more source

“I Want That Life a Lot…How on Earth Do I Get That?” Examining Challenges for Men With Barth Syndrome in Their Transitions to Adulthood

Journal of Patient Experience, 2021
vFor youth with life-limiting chronic illnesses, transitioning to adulthood in line with age-norms may be difficult due to symptom severity and shortened survival.
Iyar Mazar PhD, Sara M. Moorman PhD
doaj   +1 more source

Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts

Biology, 2023
Barth Syndrome (BTHS) is a rare X-linked genetic disease caused by a mutation in the TAFAZZIN gene, which codes for the protein tafazzin involved in cardiolipin remodeling.
Hana M. Zegallai, Kangmin Duan, Grant M. Hatch   +2 more
doaj   +1 more source

N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics

Scientific Reports, 2022
Barth syndrome (BTHS) is caused by mutations in the TAZ gene encoding the cardiolipin remodeling enzyme, Tafazzin. The study objective was to quantitatively examine growth characteristics and mitochondrial morphology of transformed lymphoblast cell lines
John Z. Chan, Maria F. Fernandes, Klaudia E. Steckel, Ryan M. Bradley, Ashkan Hashemi, Mishi R. Groh, German Sciaini, Ken D. Stark, Robin E. Duncan   +8 more
doaj   +1 more source

Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

Journal of Lipid Research, 2003
The object of this study was to investigate whether the levels of cardiolipin in cultured skin fibroblasts of patients with Barth syndrome (BTHS) can be restored by addition of linoleic acid to growth media.
F. Valianpour, R.J.A. Wanders, H. Overmars, F.M. Vaz, P.G. Barth, A.H. van Gennip   +5 more
doaj   +1 more source

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +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