Results 41 to 50 of about 817 (152)

MICOS and the mitochondrial inner membrane morphology – when things get out of shape

FEBS Letters, Volume 595, Issue 8, Page 1159-1183, April 2021., 2021
Mitochondria play a key role in cellular signalling, metabolism and energetics. Proper architecture and remodelling of the inner mitochondrial membrane are essential for efficient respiration, apoptosis and quality control in the cell. Several protein complexes including mitochondrial contact site and cristae organizing system (MICOS), F1FO‐ATP ...
Indrani Mukherjee, Mausumi Ghosh, Michael Meinecke   +2 more
wiley   +1 more source

“I Want That Life a Lot…How on Earth Do I Get That?” Examining Challenges for Men With Barth Syndrome in Their Transitions to Adulthood

Journal of Patient Experience, 2021
vFor youth with life-limiting chronic illnesses, transitioning to adulthood in line with age-norms may be difficult due to symptom severity and shortened survival.
Iyar Mazar PhD, Sara M. Moorman PhD
doaj   +1 more source

Cardiolipin deficiency in Barth syndrome is not associated with increased superoxide/H2O2 production in heart and skeletal muscle mitochondria

FEBS Letters, Volume 595, Issue 3, Page 415-432, February 2021., 2021
Barth syndrome (BTHS) is a rare X‐linked genetic disorder caused by mutations in the gene encoding the transacylase tafazzin and characterized by loss of cardiolipin and severe cardiomyopathy. Mitochondrial oxidants have been implicated in the cardiomyopathy in BTHS.
Renata L. S. Goncalves, Michael Schlame, Alexander Bartelt, Martin D. Brand, Gökhan S. Hotamışlıgil   +4 more
wiley   +1 more source

N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics

Scientific Reports, 2022
Barth syndrome (BTHS) is caused by mutations in the TAZ gene encoding the cardiolipin remodeling enzyme, Tafazzin. The study objective was to quantitatively examine growth characteristics and mitochondrial morphology of transformed lymphoblast cell lines
John Z. Chan, Maria F. Fernandes, Klaudia E. Steckel, Ryan M. Bradley, Ashkan Hashemi, Mishi R. Groh, German Sciaini, Ken D. Stark, Robin E. Duncan   +8 more
doaj   +1 more source

Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies [PDF]

, 2015
Studying monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combine patient-derived and genetically engineered iPSCs with tissue engineering to elucidate the pathophysiology ...
Agarwal, Ashutosh, Chen, Jinghai, Chien, Kenneth R., Church, George M., Ding, Jian, Geva, Judith, He, Aibin, Jiang, Dawei, Kelley, Richard I., Kulik, Wim, Laflamme, Michael A., Li, Kai, Ma, Qing, McCain, Megan L., Murry, Charles E., Parker, Kevin Kit, Pasqualini, Francesco Silvio, Pu, William T., Roberts, Amy E., Vaz, Frédéric M., Wanders, Ronald J. A., Wang, Da-zhi, Wang, Gang, Wang, Jiwu, Yang, Luhan, Yuan, Hongyan, Zangi, Lior, Zhang, Donghui   +27 more
core   +1 more source

Designing Biomaterial Platforms for Cardiac Tissue and Disease Modeling

Advanced NanoBiomed Research, Volume 1, Issue 1, January 2021., 2021
Herein, current developments and applications of in vitro cardiac platforms for disease modeling are discussed. This article also discusses the types of cardiac models, their respective limitations, and prospects for developing better, more advanced cardiac tissue models to better mimic the native cardiac environment.
Andrew House, Iren Atalla, Eun Jung Lee, Murat Guvendiren   +3 more
wiley   +1 more source

Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

Journal of Lipid Research, 2003
The object of this study was to investigate whether the levels of cardiolipin in cultured skin fibroblasts of patients with Barth syndrome (BTHS) can be restored by addition of linoleic acid to growth media.
F. Valianpour, R.J.A. Wanders, H. Overmars, F.M. Vaz, P.G. Barth, A.H. van Gennip   +5 more
doaj   +1 more source

Mitochondrial membrane lipid remodeling in pathophysiology: A new target for diet and therapeutic interventions [PDF]

, 2013
Mitochondria are arbiters in the fragile balance between cell life and death. These organelles present an intricate membrane system, with a peculiar lipid composition and displaying transverse as well as lateral asymmetry.
Jurado, A. S., Monteiro, João P., Oliveira, Paulo J.   +2 more
core   +1 more source

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome [PDF]

, 2021
Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ).
Danilenko, Nina, Motuk, Iryna, Sivitskaya, Larysa, Zhelev, Nikolai   +3 more
core   +2 more sources

Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome

Frontiers in Molecular Biosciences, 2022
Barth syndrome (BTHS, OMIM 302060) is a genetic disorder caused by variants of the TAFAZZIN gene (G 4.5, OMIM 300394). This debilitating disorder is characterized by cardio- and skeletal myopathy, exercise intolerance, and neutropenia.
Zhuqing Liang, Michael W. Schmidtke, Miriam L. Greenberg   +2 more
doaj   +1 more source