Results 31 to 40 of about 1,622,122 (202)

Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome

Prague Medical Report, 2013
Barth syndrome is an X-linked recessive disorder that is caused by mutations in  Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia,
S. Mazurová, M. Tesařová, M. Magner, H. Houšťková, H. Hansíková, J. Augustínová, V. Tomek,  A. Vondráčková, J. Zeman, Tomáš Honzík   +9 more
doaj   +1 more source

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissioned Barth Syndrome Service

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, Pieles, Guido E, Steward, Colin G, Hamilton-Shield, Julian P, Ness, Andrew R, Rogers, Chris A, Bucciarelli-Ducci, Chiara, Greenwood, Rosemary, Ellis, Lucy, Sheehan, Karen, Reeves, Barnaby C   +10 more
doaj   +1 more source

Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome[S]

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, Kui Yang, Xinping Liu, David J. Mancuso, Shaoping Guan, Zhongdan Zhao, Harold F. Sims, Rebekah Cerqua, W. Todd Cade, Xianlin Han, Richard W. Gross   +10 more
doaj   +1 more source

Erdbeschreibung von Kursachsen und den iezt dazu gehörenden Ländern : für die Jugend

Vorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth ...
Merkel, Dankegott Immanuel
core   +3 more sources

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, Abhishek Aich, Gaurav Jain, Katharina Wozny, Christian Lüchtenborg, Magnus Hartmann, Olaf Bernhard, Martina Balleiniger, Ezzaldin Ahmed Alfar, Anke Zieseniss, Karl Toischer, Kaomei Guan, Silvio O. Rizzoli, Britta Brügger, Andrè Fischer, Dörthe M. Katschinski, Peter Rehling, Jan Dudek   +17 more
doaj   +1 more source

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, Al-Majid Sadeeka, Rakovski Cyril S, MD Christina D   +3 more
doaj   +1 more source

Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults

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   +1 more source

#01-#06 Fredrik Barth

, 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  

Barth Syndrome Is Associated with a Cognitive Phenotype [PDF]

Journal of Developmental & Behavioral Pediatrics, 2007
Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype.The present study was designed
Michèle M M, Mazzocco, Anne E, Henry, Richard I, Kelly   +2 more
openaire   +2 more sources

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, Yan eHuang, Arnold W Strauss, Zaza eKhuchua   +3 more
doaj   +1 more source