Results 1 to 10 of about 808 (154)

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome [PDF]

JIMD Reports
Barth syndrome (BTHS) is a rare X‐linked recessive disorder characterized by mutations in the TAFAZZIN gene, leading to mitochondrial dysfunction, cardioskeletal myopathy, neutropenia, exercise intolerance, and growth delay. While cardiac transplantation
W. Todd Cade, Kathryn L. Bohnert, Linda R. Peterson, Lisa de las Fuentes, Emily Poehlein, Cynthia L. Green, Christina A. Pacak, Barry J. Byrne, Dominic N. Reeds, Adil Bashir, Brian Feingold, Carolyn Taylor   +11 more
doaj   +3 more sources

Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study [PDF]

Orphanet Journal of Rare Diseases
Background Barth syndrome (BTHS) is a rare, X-linked disorder that stems from mutations in the TAFAZZIN (TAZ) gene with varying disease severity among patients.
Chad Gwaltney, Alan Shields, Emily Love, Sarah Ollis, Jonathan Stokes, Iyar Mazar, Ethan Arenson, Anthony Aiudi, R. J. Wirth, Carrie Houts   +9 more
doaj   +4 more sources

Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently ...
Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields   +6 more
doaj   +3 more sources

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome [PDF]

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
doaj   +3 more sources

Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome [PDF]

Journal of Inflammation, 2012
Background Barth Syndrome (BTHS) is a serious X-linked genetic disorder associated with mutations in the tafazzin gene (TAZ, also called G4.5). The multi-system disorder is primarily characterized by the following pathologies: cardiac and skeletal ...
Wilson Lori D, Al-Majid Sadeeka, Rakovski Cyril S, MD Christina D   +3 more
doaj   +4 more sources

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome [PDF]

Molecular Genetics and Metabolism Reports, 2020
Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism.
W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds   +8 more
doaj   +3 more sources

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue [PDF]

EMBO Molecular Medicine
Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Michel van Weeghel, Iman Man Hu, Cathelijne M E Lamboo, Denise Cloutier, Barry J Byrne, Jan Bert van Klinken, Paul M L Janssen, Sander R Piersma, Connie R Jimenez, Frédéric M Vaz, Gajja S Salomons, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +18 more
doaj   +2 more sources

Tafazzin regulates neutrophil maturation and inflammatory response [PDF]

EMBO Reports
Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy.
Przemysław Zakrzewski, Christopher M Rice, Kathryn Fleming, Drinalda Cela, Sarah J Groves, Fernando M Ponce-Garcia, Willem Gibbs, Kiran Roberts, Tobias Pike, Douglas Strathdee, Eve Anderson, Angela H Nobbs, Ashley M Toye, Colin Steward, Borko Amulic   +14 more
doaj   +3 more sources

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome[S] [PDF]

Journal of Lipid Research, 2015
Barth syndrome (BTHS), an X-linked disease associated with cardioskeletal myopathy, neutropenia, and organic aciduria, is characterized by abnormalities of card­iolipin (CL) species in mitochondria.
Roberto Angelini, Simona Lobasso, Ruggiero Gorgoglione, Ann Bowron, Colin G. Steward, Angela Corcelli   +5 more
doaj   +3 more sources

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome [PDF]

Experimental and Molecular Medicine
Barth syndrome (BTHS) is an ultrarare, infantile-onset, X-linked recessive mitochondrial disorder that primarily affects males, owing to mutations in TAFAZZIN, which catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for ...
Ye Seul Kim, Sukdong Yoo, Yoon Ji Jung, Jung Won Yoon, Yong Seong Kwon, Nayeon Lee, Chong Kun Cheon, Jae Ho Kim   +7 more
doaj   +2 more sources