Results 91 to 100 of about 808 (154)

atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its [PDF]

deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria, ” J Inherit Metab ...
Abnormal Mitochondria, Arbelaez A, Castillo M, X-linked Carioskelatal Myopathy   +3 more
core  

SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome

Scientific Reports
Barth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo, Domenico De Rasmo, Roberta Rossi, Anna Signorile, Simona Lobasso   +4 more
doaj   +1 more source

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
core   +1 more source

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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Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·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, YAN Zihang, WU Jinjin, CHEN Hao, CHEN Lijun, CHEN Yiwei, FU Lijun   +6 more
doaj   +1 more source

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
core   +1 more source

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
core   +1 more source

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
core   +1 more source

Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression

Frontiers in Genetics, 2022
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +1 more source

A novel <i>TAFAZZIN</i> gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report. [PDF]

Front Pediatr
Krawiec M, Śliwka J, Pawlak S, Kapałka M, Hamerling P, Grzywacz W, Hawel W, Skórska G, Piekutowska-Abramczuk D, Hrapkowicz T.   +9 more
europepmc   +1 more source