Results 21 to 30 of about 1,298,581 (123)
JMIR Research Protocols, 2021 BackgroundBarth syndrome is a rare, life-threatening, X-linked recessive genetic disease that predominantly affects young males and is caused by abnormal mitochondrial lipid metabolism. Currently, there is no definitive treatment for Barth syndrome other
Dabner, Lucy +10 more
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Journal of Lipid Research, 2013 Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was generated to deconvolute the complex bioenergetic phenotype of this disease. To
Michael A. Kiebish +10 more
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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 +5 more
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Erdbeschreibung von Kursachsen und den iezt dazu gehörenden Ländern : für die Jugend
Vorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth ...
Merkel, Dankegott Immanuel
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Defective Mitochondrial Cardiolipin Remodeling Dampens HIF-1α Expression in Hypoxia
Cell Reports, 2018 Summary: Mitochondria fulfill vital metabolic functions and act as crucial cellular signaling hubs, integrating their metabolic status into the cellular context.
Arpita Chowdhury +17 more
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Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome
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 +3 more
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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 +6 more
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, 2021 This flyer series (1 HEX) is a précis from a tutorial process with Prof. Fredrik Barth. It also develops a view of the main concerns and arguments in the resulting thesis (Theodor Barth) available on KHiODA (and is available for readers who wish to go ...
Barth, Theodor
core
Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.
Frontiers in Physiology, 2013 The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers +3 more
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Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development
Developmental Dynamics, EarlyView.Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng +3 more
wiley +1 more source