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 …

Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy

E Bertero, A Nickel, M Kohlhaas, M Hohl, V Sequeira… - Circulation, 2021 - Am Heart Assoc
Background: Barth syndrome (BTHS) is caused by mutations of the gene encoding tafazzin,
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 …

[HTML][HTML] Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome

I Kutschka, E Bertero, C Wasmus, K Xiao… - Basic Research in …, 2023 - Springer
Barth Syndrome (BTHS) is an inherited cardiomyopathy caused by defects in the
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 …

[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 …

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 …

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 …

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 …

[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 …