Results 11 to 20 of about 39,984 (208)
Orphanet Journal of Rare Diseases, 2013 First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA ...
Clarke Sarah LN +16 more
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Barth syndrome: mechanisms and management
The Application of Clinical Genetics, 2019 Josef FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, AustriaObjectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the ...
Finsterer J
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Efficacy and Mechanism EvaluationBackground Barth syndrome is a rare, life-threatening X-linked recessive mitochondrial disorder of lipid metabolism primarily affecting males. Previous research suggests that bezafibrate may ameliorate cellular lipid abnormalities and reduce cardiac ...
Guido Pieles +22 more
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A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes [PDF]
Disease Models & MechanismsErika Yazawa +7 more
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Barth Syndrome Cardiomyopathy: An Update. [PDF]
Genes (Basel), 2022 Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis. Cardiomyopathy is a major clinical feature of BTHS.
Pang J +4 more
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Experimental models of Barth syndrome. [PDF]
J Inherit Metab Dis, 2022 AbstractMutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X‐linked disorder characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia. TAZ is an acyltransferase that catalyzes the remodeling of cardiolipin, the signature phospholipid of the inner mitochondrial membrane. Here, we review the major model systems that have been
Pu WT.
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JIMD Reports, 2022 Cardiomyopathy is the most common presenting feature of Barth syndrome, often presenting in infancy with severe heart failure and cardiac dysfunction. Historically, affected infants commonly died early after presentation, sometimes before a diagnosis of ...
Jessie Yester, Brian Feingold
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Barth syndrome cardiomyopathy [PDF]
Cardiovascular Research, 2017 Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Jan, Dudek, Christoph, Maack
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Assessing olfactory functions in patients with Barth syndrome. [PDF]
PLoS ONE, 2017 Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening.
Michele Dibattista +3 more
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Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. [PDF]
PLoS ONE, 2016 Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia.
Yana Sandlers +6 more
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