Elamipretide for Barth syndrome cardiomyopathy: Gradual rebuilding of a failed power grid
HN Sabbah - Heart failure reviews, 2022 - Springer
Barth syndrome is a rare and potentially fatal X-linked disease characterized by
cardiomyopathy, skeletal muscle weakness, growth delays, and cyclic neutropenia. Patients …
cardiomyopathy, skeletal muscle weakness, growth delays, and cyclic neutropenia. Patients …
Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide
HN Sabbah - Heart failure reviews, 2021 - Springer
Barth syndrome (BTHS) is a rare, X-linked recessive, infantile-onset debilitating disorder
characterized by early-onset cardiomyopathy, skeletal muscle myopathy, growth delay, and …
characterized by early-onset cardiomyopathy, skeletal muscle myopathy, growth delay, and …
Temporal evolution of the heart failure phenotype in Barth syndrome and treatment with elamipretide
HN Sabbah, C Taylor, HJ Vernon - Future Cardiology, 2023 - Taylor & Francis
Barth syndrome (BTHS) is a rare genetic disorder caused by pathogenic variants in
TAFAZZIN leading to reduced remodeled cardiolipin (CL), a phospholipid essential to …
TAFAZZIN leading to reduced remodeled cardiolipin (CL), a phospholipid essential to …
Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets
HM Zegallai, GM Hatch - Molecular and cellular biochemistry, 2021 - Springer
Barth syndrome is a rare X-linked genetic disease classically characterized by
cardiomyopathy, skeletal myopathy, growth retardation, neutropenia, and 3 …
cardiomyopathy, skeletal myopathy, growth retardation, neutropenia, and 3 …
Current and future treatment approaches for Barth syndrome
R Thompson, J Jefferies, S Wang… - Journal of Inherited …, 2022 - Wiley Online Library
Barth Syndrome is an X‐linked disorder of mitochondrial cardiolipin metabolism caused by
pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy …
pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy …
A critical appraisal of the tafazzin knockdown mouse model of Barth syndrome: what have we learned about pathogenesis and potential treatments?
M Ren, PC Miller, M Schlame… - American Journal of …, 2019 - journals.physiology.org
Pediatric heart failure remains poorly understood, distinct in many aspects from adult heart
failure. Limited data point to roles of altered mitochondrial functioning and, in particular …
failure. Limited data point to roles of altered mitochondrial functioning and, in particular …
Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome
B Hornby, WR Thompson, M Almuqbil… - Orphanet journal of rare …, 2022 - Springer
Background Natural history studies are increasingly recognized as having an important role
in drug development for rare diseases. A phase 3, observational, retrospective, and non …
in drug development for rare diseases. A phase 3, observational, retrospective, and non …
Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection
KK Raval, TJ Kamp - Nature medicine, 2014 - nature.com
Barth syndrome is a rare X-linked genetic disorder caused by mutations in the tafazzin (TAZ)
gene that result in dilated cardiomyopathy, skeletal myopathy and neutropenia. Tafazzin has …
gene that result in dilated cardiomyopathy, skeletal myopathy and neutropenia. Tafazzin has …
[HTML][HTML] A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder …
WR Thompson, B Hornby, R Manuel, E Bradley… - Genetics in …, 2021 - Elsevier
Purpose To evaluate effectiveness of elamipretide in Barth syndrome (BTHS), a genetic
condition of defects in TAZ, which causes abnormal cardiolipin on the inner mitochondrial …
condition of defects in TAZ, which causes abnormal cardiolipin on the inner mitochondrial …
Metabolomic biomarkers from patients with Barth syndrome treated with elamipretide: insights from the TAZPOWER study
Background Barth syndrome is an inherited disorder that results from pathogenic mutations
in TAZ, the gene responsible for encoding tafazzin, an enzyme that remodels the …
in TAZ, the gene responsible for encoding tafazzin, an enzyme that remodels the …