Results 31 to 40 of about 809 (138)

CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]

, 2020
The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I, Jacinto, Filipe, Link, Wolfgang   +2 more
core   +1 more source

Tafazzin deficiency in mouse mesenchymal stem cells promote reprogramming of activated B lymphocytes toward immunosuppressive phenotypes

The FASEB Journal, Volume 36, Issue 8, August 2022., 2022
Abstract Barth Syndrome (BTHS) is a rare X‐linked genetic disorder caused by mutation in the TAFAZZIN gene. Tafazzin (Taz) deficiency in BTHS patients results in an increased risk of infections. Mesenchymal stem cells (MSCs) are well known for their immune‐inhibitory function.
Hana M. Zegallai, Ejlal Abu‐El‐Rub, Folayemi Olayinka‐Adefemi, Laura K. Cole, Genevieve C. Sparagna, Aaron J. Marshall, Grant M. Hatch   +6 more
wiley   +1 more source

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 29-37, January 2022., 2022
Abstract Barth syndrome is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and neutropenia, caused by deleterious variants in TAFAZZIN. This gene encodes a phospholipid‐lysophospholipid transacylase that is required for the remodeling of the mitochondrial phospholipid cardiolipin (CL).
Frédéric M. Vaz, Henk van Lenthe, Martin A. T. Vervaart, Femke S. Stet, Johanne H. Klinkspoor, Hilary J. Vernon, Susan M. I. Goorden, Riekelt H. Houtkooper, Willem Kulik, Ronald J. A. Wanders   +9 more
wiley   +1 more source

Loss of Mitochondrial Ca ²⁺ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy [PDF]

, 2021
Background: Barth syndrome (BTHS) is caused by mutations of the gene encoding tafazzin, which catalyzes maturation of mitochondrial cardiolipin and often manifests with systolic dysfunction during early infancy.
Abeßer, Marco, Atighetchi, Sarah, Bertero, Edoardo, Brune, Carolin, Böhm, Michael, Carlein, Christopher, Dudek, Jan, Hohl, Mathias, Hoth, Markus, Kappl, Reinhard, Kazakov, Andrey, Kohlhaas, Michael, Kuhn, Michaela, Kutschka, Ilona, Laufs, Ulrich, Maack, Christoph, Müller, Andreas, Münker, Kai, Nickel, Alexander, Prates Roma, Leticia, Rehling, Peter, Schiuma, Anna-Florentine, Schuh, Kai, Schwemmlein, Julia, Sequeira, Vasco, van der Laan, Martin, von der Malsburg, Alexander, von der Malsburg, Karina   +27 more
core   +1 more source

Mechano‐energetic aspects of Barth syndrome

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 82-98, January 2022., 2022
Abstract Energy‐demanding organs like the heart are strongly dependent on oxidative phosphorylation in mitochondria. Oxidative phosphorylation is governed by the respiratory chain located in the inner mitochondrial membrane. The inner mitochondrial membrane is the only cellular membrane with significant amounts of the phospholipid cardiolipin, and ...
Jan Dudek, Christoph Maack
wiley   +1 more source

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome [PDF]

, 2017
Barth syndrome (BTHS) is an X‐linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected
Altschuld, American College of Sports Medicine, Bahi, Barth, Bashir, Bione, Bissler, Cade, Cade, Chance, Chance, Conway, Edwards, El-Sharkawy, Gomez, Gonzalvez, Hiona, Hom, Hudsmith, Ingwall, Kemp, Kemp, Kemp, Kemp, Kushmerick, Lang, Lanza, Lanza, Larson-Meyer, Layec, Liu, Matthews, Meyer, Meyer, Minotti, Naressi, Nascimben, Neubauer, Powers, Ratel, Roussel, Sapega, Schlame, Sgobbo, Smith, Spencer, Spencer, Spoladore, Takahashi, Taylor, Taylor, Thaveau, Thompson, Tonson, Vanhamme, Wang, Wasserman, Waters, Xu, Yao, Zhang, Zoll   +61 more
core   +2 more sources

The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 38-50, January 2022., 2022
Abstract Deficiency of the transacylase tafazzin due to loss of function variants in the X‐chromosomal TAFAZZIN gene causes Barth syndrome (BTHS) with severe neonatal or infantile cardiomyopathy, neutropenia, myopathy, and short stature. The condition is characterized by drastic changes in the composition of cardiolipins, a mitochondria‐specific class ...
Gregor Oemer, Jakob Koch, Yvonne Wohlfarter, Katharina Lackner, Rita E. M. Gebert, Stephan Geley, Johannes Zschocke, Markus A. Keller   +7 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

Defining functional classes of Barth syndrome mutation in humans [PDF]

, 2016
The X-linked disease Barth syndrome (BTHS) is caused by mutations in TAZ; TAZ is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin.
Claypool, Steven M., Galbraith, Laura, Gottlieb, Eyal, Herndon, Jenny, Koehler, Carla M., Lu, Ya-Lin, Lu, Ya-Wen, Luyf, Angela, McCaffery, J.Michael, Pras-Raves, Mia, Van Kampen, Antoine, Vaz, Frederic M., Vervaart, Martin   +12 more
core   +2 more sources

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