Results 21 to 30 of about 808 (154)

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +6 more
doaj   +2 more sources

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome. [PDF]

PLoS One, 2023
UNLABELLED: Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
Schweitzer GG, Ditzenberger GL, Hughey CC, Finck BN, Martino MR, Pacak CA, Byrne BJ, Cade WT.   +7 more
europepmc   +3 more sources

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome. [PDF]

Diabetologia
Aims/hypothesis Barth syndrome is a mitochondrial disorder caused by Tafazzin (TAZ) mutations, which impair cardiolipin remodelling and contribute to systemic metabolic alterations.
Carlein C, Hoffmann MDA, Bickelmann C, Amaral AG, Lotfinia A, de Selliers LA, Audouze-Chaud J, Wrublewsky S, Lauterbach MA, von der Malsburg K, van der Laan M, Bozem M, Hoth M, Gilon P, Ravier MA, Morgan B, Ampofo E, Higuchi T, Bertero E, Dudek J, Maack C, Roma LP.   +21 more
europepmc   +3 more sources

Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies

Frontiers in Genetics, 2016
Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (often dilated), skeletal muscle weakness, neutropenia, growth retardation and 3 ...
Karine Andreau, Ian M Møller, Patrice X Petit   +2 more
exaly   +3 more sources

Expanded-access use of elamipretide in a critically ill patient with Barth syndrome [PDF]

Genetics in Medicine Open
Purpose: Barth syndrome (BTHS; OMIM #302060) is a rare disease characterized by cardiolipin abnormalities and cardiomyopathy, intermittent neutropenia and skeletal myopathy among other defects.
Amy C. Goldstein, Cassandra Pantano, Mariya Redko, Laura E. MacMullen, Katsuhide Maeda, Matthew J. O’Connor   +5 more
doaj   +2 more sources

Cardiolipin remodeling maintains the inner mitochondrial membrane in cells with saturated lipidomes. [PDF]

J Lipid Res
Cardiolipin (CL) is a unique, four-chain phospholipid synthesized in the inner mitochondrial membrane (IMM). The acyl chain composition of CL is regulated through a remodeling pathway, whose loss causes mitochondrial dysfunction in Barth syndrome (BTHS).
Venkatraman K, Budin I.
europepmc   +3 more sources

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells [PDF]

Scientific Reports
Barth syndrome (BTHS) is a rare disorder caused by mutations in the TAFAZZIN gene. Previous studies from both patients and model systems have established metabolic dysregulation as a core component of BTHS pathology.
Zhuqing Liang, Tyler Ralph-Epps, Michael W. Schmidtke, Pablo Lazcano, Simone W. Denis, Mária Balážová, Nevton Teixeira da Rosa, Mohamed Chakkour, Sanaa Hazime, Mindong Ren, Michael Schlame, Riekelt H. Houtkooper, Miriam L. Greenberg   +12 more
doaj   +2 more sources

Barth syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 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 ...
John L Jefferies
exaly   +3 more sources

The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility [PDF]

Journal of Developmental Biology
Barth syndrome (BTHS) is a rare, infantile-onset, X-linked mitochondriopathy exhibiting a variable presentation of failure to thrive, growth insufficiency, skeletal myopathy, neutropenia, and heart anomalies due to mitochondrial dysfunction secondary to ...
Paige L. Snider, Elizabeth A. Sierra Potchanant, Catalina Matias, Donna M. Edwards, Jeffrey J. Brault, Simon J. Conway   +5 more
doaj   +2 more sources

Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model. [PDF]

FASEB J
Barth syndrome (BTHS) is a rare disease caused by mutations in the tafazzin gene that affects the heart and muscles, but till date, no clinically effective drugs. Using Barth syndrome myopathy in human‐ iPS‐derived disease cells and Drosophila melanogaster model, a new mitochondria‐homing drug MA‐5, improves BTHS dysfunction and may serve as a new ...
Tongu Y, Kasahara T, Matsuhashi T, Oikawa Y, Akimoto R, Luo Y, Sekine S, Suzuki M, Kashiwagi H, Kanno S, Tanaka Y, Sato K, Okubo Y, Muto A, Tokuno H, Suzuki C, Kawabe C, Ishikawa T, Watanabe S, Kikuchi K, Itai S, Sato T, Suzuki T, Igarashi K, Fukuda S, Soga T, Murayama K, Kuranaga E, Toyohara T, Abe T.   +29 more
europepmc   +2 more sources