Results 81 to 90 of about 669 (138)

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

Barth syndrome in a female patient

, 2012
BACKGROUND: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients.
Toutain, Annick, Kulik, Willem, Labarthe, François, Guichet, Agnès, Blasco, Hélène, Chantepie, Alain, Matyas, Gabor, Vaillant, Marie-Catherine, Cosson, Laure, Maakaroun-Vermesse, Zoha, Simard, Gilles, Le Caignec, Cédric   +11 more
core   +1 more source

Mitochondrial defects lie at the basis of neutropenia in Barth syndrome

, 2009
Purpose of review Barth syndrome (BTHS) is a mitochondrial disorder characterized by neutropenia, among other defects. As yet, the correlation between the mitochondrial defect in BTHS and the neutropenia observed in these patients is unclear.
van Raam, Bram J., Bram J van Raam, Kuijpers, Taco W., Taco W Kuijpers   +3 more
core   +1 more source

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution

, 2018
Barth syndrome (BTHS) is a rare X-linked disorder that is characterized by cardiac and skeletal myopathy, neutropenia and growth abnormalities. The disease is caused by mutations in the tafazzin (TAZ) gene encoding an enzyme involved in the acyl chain ...
Held, Ntsiki M., Denis, Simone W., Chatzispyrou, Iliana A., Vaz, Frédéric M., van Weeghel, Michel, Guerrero-Castillo, Sergio, Brandt, Ulrich, Houtkooper, Riekelt H., Wanders, Ronald J., Ruiter, Jos P. N., Ferdinandusse, Sacha, IJlst, Lodewijk   +11 more
core   +1 more source

Phosphokinome Analysis of Barth Syndrome Lymphoblasts Identify Novel Targets in the Pathophysiology of the Disease

, 2018
Barth Syndrome (BTHS) is a rare X-linked genetic disease in which the specific biochemical deficit is a reduction in the mitochondrial phospholipid cardiolipin (CL) as a result of a mutation in the CL transacylase tafazzin.
Agarwal, Prasoon, Dolinsky, Vernon W., Hauff, Kristin D., Kristin D. Hauff, Amir Ravandi, Cole, Laura K., Laura K. Cole, Ravandi, Amir, Abin Chandrakumar, Chandrakumar, Abin, Hatch, Grant M., Grant M. Hatch, Vernon W. Dolinsky, Prasoon Agarwal   +13 more
core   +1 more source

The cellular and molecular mechanisms for neutropenia in Barth syndrome

, 2012
Barth syndrome (BTHS), a rare, X-linked, recessive disease, is characterized by neutropenia and cardiomyopathy. BTHS is caused by loss-of-function mutations of the tafazzin (TAZ) gene.
Kulik, Willem, Makaryan, Vahagn, Allen, Christopher, Aprikyan, Andrew A., Dror, Yigal, Dale, David C., Vaz, Frederic M.   +6 more
core   +1 more source

Biochemical Characterization Of Induced Pluripotent Stem Cell-Derived Cardiomyocytes As A Model Of Barth Syndrome

, 2022
Barth Syndrome (BTHS) is an X-linked inborn error of metabolism (IEM) which manifests as a multi-systemic disease. One of the primary symptoms is dilated cardiomyopathy, and alongside the cardiovascular disease that arises, patients often experience ...
House, Alisha J
core   +1 more source

Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome

, 2008
BACKGROUND: Barth syndrome (BTHS) is a serious X-linked, metabolic, multisystem disorder characterized by cardiomyopathy, neutropenia, myopathy, and growth delay. Because early diagnosis and appropriate treatment are of key importance for the survival of
Stone, Janet E., Kulik, Willem, Vaz, Frédéric M., Wanders, RJ, Vaz, FM, Kulik, W, Steward, CG, van Lenthe, H, Kemp, Helena, Stone, JE, Stet, Femke S., Houtkooper, RH, Steward, Colin G., Kemp, H, van Lenthe, Henk, Houtkooper, Riekelt H., Wanders, Ronald J.   +16 more
core   +1 more source

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome

, 1995
A number of families with X linked dilated cardiomyopathy with onset in infancy or childhood have now been described, with varying clinical and biochemical features.
Mulley, J., A C Colley, Wilson, M., M J Wilson, D O Sillence, Sillence, D., J C Mulley, Gedeon, A., Colley, A., A K Gedeon   +9 more
core   +1 more source

Increased mtDNA abundance and improved function in human Barth syndrome patient fibroblasts following AAV-TAZ gene delivery

, 2019
Barth syndrome (BTHS) is a rare, X-linked, mitochondrial disorder caused by mutations in the gene encoding tafazzin. BTHS results in cardiomyopathy, muscle fatigue, and neutropenia in patients.
Kang, Peter B, Mughil Sriramvenugopal, Byrne, Barry J, Manash Ramanathan, Meghan Soustek, Soustek, Meghan, Christina A. Pacak, W. Todd Cade, Barry J. Byrne, Peter B. Kang, Suzuki-Hatano, Silveli, Cade, W. T, Ramanathan, Manash, Sriramvenugopal, Mughil, Silveli Suzuki-Hatano, Pacak, Christina A   +15 more
core   +2 more sources