Results 51 to 60 of about 2,620 (178)

Characterization of Tafazzin Splice Variants from Humans and Fruit Flies [PDF]

Journal of Biological Chemistry, 2009
The tafazzin gene encodes a phospholipid-lysophospholipid transacylase involved in cardiolipin metabolism, but it is not known why it forms multiple transcripts as a result of alternative splicing. Here we studied the intracellular localization, enzymatic activity, and metabolic function of four isoforms of human tafazzin and three isoforms of ...
Yang, Xu, Shali, Zhang, Ashim, Malhotra, Irit, Edelman-Novemsky, Jinping, Ma, Antonina, Kruppa, Carolina, Cernicica, Steven, Blais, Thomas A, Neubert, Mindong, Ren, Michael, Schlame   +10 more
openaire   +2 more sources

Tafazzin knockdown in murine mesenchymal stem cells enhances the tafazzin knockdown mediated elevation in interleukin-10 secretion from murine B lymphocytes

Archives of Microbiology & Immunology, 2023
Abstract Barth Syndrome is a rare X-linked genetic disorder caused by mutations in the TAFAZZIN gene. We recently demonstrated that tafazzin (Taz) protein deficiency in murine mesenchymal stems (MSCs) reduces immune function of activated wild type (WT) B lymphocytes. Interleukin-10 (
Hana M. Zegallai, Ejlal Abu-El-Rub, Grant M. Hatch   +2 more
openaire   +1 more source

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

Journal of Lipid Research, 2005
Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL).
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz   +10 more
doaj   +1 more source

Phenotypic Characterization of Male Tafazzin-Knockout Mice at 3, 6, and 12 Months of Age

Biomedicines, 2023
Barth syndrome (BTHS) is an X-linked mitochondrial disease caused by mutations in the gene encoding for tafazzin (TAZ), a key enzyme in the remodeling of cardiolipin.
Michelle V. Tomczewski, John Z. Chan, Zurie E. Campbell, Douglas Strathdee, Robin E. Duncan   +4 more
doaj   +1 more source

A new murine model of Barth Syndrome neutropenia links TAFAZZIN deficiency to increased ER stress induced apoptosis.

, 2022
Barth syndrome is an inherited X-linked disorder that leads to cardiomyopathy, skeletal myopathy and neutropenia. These symptoms result from the loss of function of the enzyme TAFAZZIN, a transacylase located in the inner mitochondrial membrane that is ...
Pu, William T, Keene, Douglas R, Sykes, David Brian, Milosevic, Jelena, Wang, Suya, Aziz, Najihah, Cetinbas, Murat, Sohn, Jihee, Brouse, Thomas, Sadreyev, Ruslan, Hauschild, Alexander, Elkhoury, Jenna, van Gastel, Nick, Tufa, Sara F   +13 more
core   +1 more source

Plasmalogen loss caused by remodeling deficiency in mitochondria

Life Science Alliance, 2019
31 P NMR unveils cell type–dependent losses of plasmalogen in the chain remodeling–deficient brain, liver, kidney, and lymphoblast in association with aberrant mitochondrial function and morphology. Lipid homeostasis is crucial in human health.
Tomohiro Kimura, Atsuko K Kimura, Mindong Ren, Vernon Monteiro, Yang Xu, Bob Berno, Michael Schlame, Richard M Epand   +7 more
doaj   +1 more source

Impacts of plant tafazzin deficiency on differential gene expression

, 2023
Tafazzin is a mitochondrial protein characterized in mammals and yeast. Tafazzin remodels the fatty acids of cardiolipin, aiding in the proper function of the electron transport chain.
Welti, Ruth, Zoong Lwe, Zolian, Hayden, Cole   +2 more
core  

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome [PDF]

Human Molecular Genetics
Yvonne Wohlfarter, Arianna F Anzmann, Anne Hamacher-Brady   +2 more
exaly   +2 more sources

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

Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria [PDF]

Journal of Biological Chemistry, 2020
Barth syndrome is a mitochondrial myopathy resulting from mutations in the tafazzin (TAZ) gene encoding a phospholipid transacylase required for cardiolipin remodeling. Cardiolipin is a phospholipid of the inner mitochondrial membrane essential for the function of numerous mitochondrial proteins and processes.
Catherine H. Le, Lindsay G. Benage, Kalyn S. Specht, Lance C. Li Puma, Christopher M. Mulligan, Adam L. Heuberger, Jessica E. Prenni, Steven M. Claypool, Kathryn C. Chatfield, Genevieve C. Sparagna, Adam J. Chicco   +10 more
openaire   +2 more sources