Results 91 to 100 of about 809 (138)
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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Scientific ReportsBarth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo +4 more
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Novel Functions Of Cardiolipin Remodeling In Saccharomyces Cerevisiae And Mammalian Cells: Implications For Barth Syndrome [PDF]
, 2017 Cardiolipin (CL) is a unique phospholipid that is primarily localized within the inner mitochondrial membrane. Newly synthesized CL undergoes acyl remodeling to produce CL species enriched with unsaturated acyl groups.
Lou, Wenjia
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Exercise training improves exercise capacity despite persistent muscle mitochondrial dysfunction in the taz shRNA mouse model of human Barth Syndrome [PDF]
, 2013 2013 Spring.Includes bibliographical references.Barth Syndrome is a mitochondrial disease associated with exercise intolerance and cardioskeletal myopathy resulting from mutations in the tafazzin (taz) gene.
Claiborne, Michael Scott
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Cardiolipin Is Required For Optimal Acetyl-Coa Metabolism [PDF]
, 2016 The phospholipid cardiolipin (CL) is crucial for many cellular functions and signaling pathways, both inside and outside of mitochondria. My thesis focuses on the role of CL in energy metabolism.
Raja, Vaishnavi
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The role of cardiolipin in the regulation of mitochondria-dependent apoptosis [PDF]
, 2008 Mitochondria are known as the powerhouse of the cell due to their central role in energy generation and as the site of key metabolic pathways.
Gonzalvez, Francois
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Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome
Shanghai Jiaotong Daxue xuebao. Yixue banObjective·To analyze the clinical and genetic characteristics of Chinese pediatric patients with Barth syndrome (BTHS) and provide data to support the prevention and treatment of BTHS.Methods·Eighteen pediatric patients diagnosed with BTHS at Shanghai ...
ZHAN Tianliu +6 more
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Cardiolipin Regulates Mitophagy Through The Pkc Pathway [PDF]
, 2015 Cardiolipin (CL), the signature phospholipid of mitochondrial membranes, is important for cardiovascular health. Perturbation of CL metabolism is implicated in cardiovascular disease (CVD).
Shen, Zheni
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The Effect of PPARβ/δ Activation on Soleus Contractile and Metabolic Function in the Rodent Model of Barth Syndrome [PDF]
Barth syndrome is a rare and incurable X-linked genetic disease that impairs the production of tafazzin (Taz) protein. Taz catalyzes the transacylation reaction of monolysocardiolipin (MLCL) in the final step of cardiolipin (CL) remodeling to produce ...
Andonovski, Martin
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