Results 51 to 60 of about 2,358 (161)

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

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

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

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

Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome

EMBO Molecular Medicine, 2023
Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin.
Arpita Chowdhury, Angela Boshnakovska, Abhishek Aich, Aditi Methi, Ana Maria Vergel Leon, Ivan Silbern, Christian Lüchtenborg, Lukas Cyganek, Jan Prochazka, Radislav Sedlacek, Jiri Lindovsky, Dominic Wachs, Zuzana Nichtova, Dagmar Zudova, Gizela Koubkova, André Fischer, Henning Urlaub, Britta Brügger, Dörthe M Katschinski, Jan Dudek, Peter Rehling   +20 more
doaj   +1 more source

Cardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagy [PDF]

Autophagy, 2015
Tafazzin (TAZ) is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation. Mutations of TAZ cause Barth syndrome, which is characterized by mitochondrial dysfunction and dilated cardiomyopathy, leading to premature death.
Paul, Hsu, Xiaolei, Liu, Jun, Zhang, Hong-Gang, Wang, Ji-Ming, Ye, Yuguang, Shi   +5 more
openaire   +2 more sources

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

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome

PLoS ONE, 2023
Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
George G. Schweitzer, Grace L. Ditzenberger, Curtis C. Hughey, Brian N. Finck, Michael R. Martino, Christina A. Pacak, Barry J. Byrne, William Todd Cade   +7 more
doaj  

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells [PDF]

Microbial Cell, 2018
Cardiolipin (CL) optimizes diverse mitochondrial processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase Tafazzin (TAZ). Loss-of-function mutations in the TAZ gene are responsible for the Barth syndrome (BTHS), a rare X-linked cardiomyopathy, presumably because of a ...
de Tilques, Maxence de Taffin, Lasserre, Jean-Paul, Godard, François, Sardin, Elodie, Bouhier, Marine, Le Guedard, Marina, Kucharczyk, Roza, Petit, Patrice X., Testet, Eric, Di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah   +10 more
openaire   +6 more sources