Results 21 to 30 of about 809 (138)

Pharmacological increases in circulating ketones fail to alleviate the hypertrophic cardiomyopathy present in the Tafazzin knockdown mouse model of Barth syndrome. [PDF]

J Pharm Pharm Sci
ObjectiveMutations in the tafazzin gene lead to impaired remodeling of cardiolipin, thereby impairing mitochondrial function and causing Barth syndrome (BTHS), a rare X-linked genetic disorder characterized by cardiomyopathy.
Shafaati T, Greenwell AA, Saed CT, Tabatabaei Dakhili SA, Chan JSF, Dong L, Stenlund MJ, Ferrari SR, Han R, Kruger J, Eaton F, Gopal K, Davidge ST, Oudit GY, Ussher JR.   +14 more
europepmc   +2 more sources

Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model. [PDF]

Orphanet J Rare Dis
Background Living with children with disabilities has a significant impact on parental health-related quality of life (HRQoL) and family functioning. Barth syndrome (BTHS) is a rare, X-linked disorder that primarily affects males, presenting symptoms ...
Lim Y, Hong I, Han A.
europepmc   +2 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

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

Genet Med 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.
Goldstein AC, Pantano C, Redko M, MacMullen LE, Maeda K, O'Connor MJ.   +5 more
europepmc   +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

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

J Dev Biol
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 ...
Snider PL, Sierra Potchanant EA, Matias C, Edwards DM, Brault JJ, Conway SJ.   +5 more
europepmc   +2 more sources

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

Sci Rep
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.
Liang Z, Ralph-Epps T, Schmidtke MW, Lazcano P, Denis SW, Balážová M, Teixeira da Rosa N, Chakkour M, Hazime S, Ren M, Schlame M, Houtkooper RH, Greenberg ML.   +12 more
europepmc   +2 more sources

Mouse tafazzin is required for male germ cell meiosis and spermatogenesis [PDF]

, 2015
Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Bryson, S., Cadalbert, L.C., Ghaffar, F.N., Gottlieb, E., Stevenson, D., Strathdee, D., Vaz, F.M.   +6 more
core   +11 more sources

Quality of life in Barth syndrome

Therapeutic Advances in Rare Disease, 2022
Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population.
Alexander Y. Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil, Brittany Hornby   +4 more
doaj   +1 more source

Myocardial disturbances of intermediary metabolism in Barth syndrome

Frontiers in Cardiovascular Medicine, 2022
Barth Syndrome (BTHS) is a rare X-linked mitochondrial disorder due to mutations in the gene TAFAZZIN, which leads to immature cardiolipin (CL) remodeling and is characterized by the development of cardiomyopathy.
Amanda A. Greenwell, Amanda A. Greenwell, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, John R. Ussher, John R. Ussher   +5 more
doaj   +1 more source