Results 41 to 50 of about 39,836 (205)

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

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

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

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

Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy [PDF]

Lipids, 2017
AbstractThe Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid‐uria, skeletal muscle weakness and cardiomyopathy.
Nikita, Ikon, Robert O, Ryan
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

Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition

Membranes, 2022
The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu, Ying-Chih Chen, Ruo-Yun Lai, Jui-Fen Chan, Ya-Hui Lee, Maria Balazova, Yuan-Hao Howard Hsu   +6 more
doaj   +1 more source