Results 91 to 100 of about 1,210,144 (112)

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

A cell penetrating peptide enhances tafazzin gene therapy in a mouse model of Barth Syndrome [PDF]

Barth Syndrome (BTHS) is an early onset, lethal X-linked disorder caused by a mutation in tafazzin (TAFAZZIN), a mitochondrial acyltransferase that remodels monolysocardiolipin (MLCL) to mature cardiolipin (CL) and is essential for normal mitochondrial ...
Martin, Gregory L., Gregory L. Martin, Rahul Raghav, Robert M. Blanton, Awata, Junya, Strathdee, Douglas, Blanton, Robert M., Junya Awata, Michael T. Chin, Douglas Strathdee, Chin, Michael T., Raghav, Rahul   +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

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

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

Journal of Pharmacy & Pharmaceutical Sciences
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.
Tanin Shafaati, Tanin Shafaati, Tanin Shafaati, Amanda A. Greenwell, Amanda A. Greenwell, Amanda A. Greenwell, Christina T. Saed, Christina T. Saed, Christina T. Saed, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Jordan S. F. Chan, Jordan S. F. Chan, Jordan S. F. Chan, Linyue Dong, Linyue Dong, Magnus J. Stenlund, Magnus J. Stenlund, Magnus J. Stenlund, Sally R. Ferrari, Sally R. Ferrari, Sally R. Ferrari, Ruth Han, Ruth Han, Jennifer Kruger, Farah Eaton, Farah Eaton, Farah Eaton, Keshav Gopal, Keshav Gopal, Keshav Gopal, Sandra T. Davidge, Sandra T. Davidge, Sandra T. Davidge, Gavin Y. Oudit, Gavin Y. Oudit, Gavin Y. Oudit, John R. Ussher, John R. Ussher, John R. Ussher   +40 more
doaj   +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

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

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

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   +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