Results 1 to 10 of about 507 (113)

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   +5 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   +4 more sources

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

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

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   +3 more sources

Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study

JIMD Reports, 2021
Background Muscle weakness and exercise intolerance contribute to reduced quality of life (QOL) in Barth syndrome (BTHS). Our group previously found that 12 weeks of resistance exercise training (RET) improved muscle strength, however, did not increase ...
Kathryn L. Bohnert, Grace Ditzenberger, Adam J. Bittel, Lisa de lasFuentes, Manuela Corti, Christina A. Pacak, Carolyn Taylor, Barry J. Byrne, Dominic N. Reeds, W. Todd Cade   +9 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

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene

Molecular Genetics & Genomic Medicine, 2023
Barth syndrome (BTHS) is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3‐methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafazzin and is ...
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo   +12 more
doaj   +2 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

Cardiolipin acyl chain composition tailors the conformation of mammalian ATP synthase dimers [PDF]

Communications Chemistry
The interplay between ATP synthase dimers and the four-tailed lipid cardiolipin (CL) shapes mitochondrial cristae structure and function. In the mitochondrial disorder Barth syndrome (BTHS), cristae membranes accumulate a less unsaturated, three-tailed ...
M. Makowski, V. G. Almendro-Vedia, I. López-Montero   +2 more
doaj   +2 more sources