Regulation of hepatic cardiolipin metabolism by TNFα: Implication in cancer cachexia [PDF]
, 2015 International audienceCardiolipin (CL) content accumulation leads to an increase in energy wasting in liver mitochondria in a rat model of cancer cachexia in which tumor necrosis factor alpha (TNFα) is highly expressed.
Chevalier, Stephan +12 more
core +3 more sources
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 +2 more
doaj +1 more source
CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]
, 2020 The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I +2 more
core +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 +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 +20 more
doaj +1 more source
Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition
Membranes, 2022 The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu +6 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 variant generally do not experience the condition.
Sergi CM.
europepmc +3 more sources
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies [PDF]
, 2015 Studying monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combine patient-derived and genetically engineered iPSCs with tissue engineering to elucidate the pathophysiology ...
Agarwal, Ashutosh +27 more
core +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
Evaluation of Tafazzin as Candidate for Dilated Cardiomyopathy in Irish Wolfhounds [PDF]
Journal of Heredity, 2007 Dilated cardiomyopathy (DCM) is a common disease in humans and dogs. Large-breed dogs and especially Irish wolfhounds belong to the frequently affected breeds. Male Irish wolfhounds show a significantly higher prevalence of DCM than females. Therefore, we evaluated X chromosome markers for linkage with DCM as well as a human candidate gene on the X ...
Ute, Philipp +3 more
openaire +2 more sources