A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function
Z Khuchua, Z Yue, L Batts, AW Strauss - Circulation research, 2006 - Am Heart Assoc
Barth syndrome is an X-linked disorder characterized by cardiomyopathy, skeletal
myopathy, neutropenia, organic aciduria, and growth retardation caused by mutations in …
myopathy, neutropenia, organic aciduria, and growth retardation caused by mutations in …
Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy
Background: Barth syndrome (BTHS) is caused by mutations of the gene encoding tafazzin,
which catalyzes maturation of mitochondrial cardiolipin and often manifests with systolic …
which catalyzes maturation of mitochondrial cardiolipin and often manifests with systolic …
[HTML][HTML] New clinical and molecular insights on Barth syndrome
L Ferri, MA Donati, S Funghini, S Malvagia… - Orphanet Journal of …, 2013 - Springer
Background Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease
characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3 …
characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3 …
[HTML][HTML] Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome
Barth Syndrome (BTHS) is an inherited cardiomyopathy caused by defects in the
mitochondrial transacylase TAFAZZIN (Taz), required for the synthesis of the phospholipid …
mitochondrial transacylase TAFAZZIN (Taz), required for the synthesis of the phospholipid …
Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy
M Hachmann, G Gülcan, R Rajendran… - Frontiers in Molecular …, 2024 - frontiersin.org
Barth Syndrome (BTHS) is a rare X-linked disease, characterized clinically by
cardiomyopathy, skeletal myopathy, neutropenia, and growth retardation. BTHS is caused …
cardiomyopathy, skeletal myopathy, neutropenia, and growth retardation. BTHS is caused …
[HTML][HTML] Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome [S]
MA Kiebish, K Yang, X Liu, DJ Mancuso, S Guan… - Journal of lipid …, 2013 - ASBMB
Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial
transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was …
transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was …
A new murine model of Barth syndrome neutropenia links TAFAZZIN deficiency to increased ER stress-induced apoptosis
J Sohn, J Milosevic, T Brouse, N Aziz… - Blood …, 2022 - ashpublications.org
Barth syndrome is an inherited X-linked disorder that leads to cardiomyopathy, skeletal
myopathy, and neutropenia. These symptoms result from the loss of function of the enzyme …
myopathy, and neutropenia. These symptoms result from the loss of function of the enzyme …
Barth syndrome: mechanisms and management
J Finsterer - The Application of Clinical Genetics, 2019 - Taylor & Francis
Objectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial
disorder, primarily affecting males, due to variants in TAZ encoding for the cardiolipin …
disorder, primarily affecting males, due to variants in TAZ encoding for the cardiolipin …
Barth syndrome-related cardiomyopathy is associated with a reduction in myocardial glucose oxidation
AA Greenwell, K Gopal, TR Altamimi… - American Journal …, 2021 - journals.physiology.org
Heart failure presents as the leading cause of infant mortality in individuals with Barth
syndrome (BTHS), a rare genetic disorder due to mutations in the tafazzin (TAZ) gene …
syndrome (BTHS), a rare genetic disorder due to mutations in the tafazzin (TAZ) gene …
[HTML][HTML] Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
V Raja, CA Reynolds, ML Greenberg - Journal of rare diseases …, 2017 - ncbi.nlm.nih.gov
Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by
cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and …
cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and …