Results 51 to 60 of about 2,720 (174)
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 +17 more
doaj +1 more source
Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]
Genes (Basel)Barth syndrome (BTHS) is inherited through an X-linked pattern. The gene is located on Xq28. Male individuals who inherit the TAFAZZIN pathogenic variant will have the associated condition, while female individuals who inherit the TAFAZZIN pathogenic ...
Sergi CM.
europepmc +2 more sources
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 +2 more
openaire +1 more source
Molecular Therapy: Methods & Clinical Development, 2019 Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano +6 more
doaj +1 more source
Effects of N‐oleoylethanolamide on Lymphoblasts Deficient in Tafazzin
The FASEB Journal, 2021 Barth Syndrome (BTHS) is a rare X‐linked genetic disorder caused by mutations in the TAZ gene that encodes for the cardiolipin remodelling enzyme, Tafazzin. This syndrome is characterized by cardiac and skeletal myopathies, as well as immunological deficits that cause significant morbidity ...
John Chan +6 more
openaire +1 more source
Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis [PDF]
PLOS ONE, 2015 Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Cadalbert, L.C. +6 more
openaire +5 more sources
Tafazzin Modulates Allergen-Induced Mast Cell Inflammatory Mediator Secretion [PDF]
ImmunoHorizons, 2021 Abstract Allergic inflammatory diseases are a steadily growing health concern. Mast cells, a driving force behind allergic pathologies, modulate metabolic pathways to carry out various functions following IgE-FcεRI–mediated activation. Tafazzin (TAZ) is a cardiolipin transacylase that functions to remodel, and thereby mature, cardiolipin,
Aindriu R R Maguire +6 more
openaire +2 more sources
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 +4 more
doaj +1 more source
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 +10 more
openaire +2 more sources
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 +10 more
doaj +1 more source