Results 41 to 50 of about 669 (138)

“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

Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts

Biology, 2023
Barth Syndrome (BTHS) is a rare X-linked genetic disease caused by a mutation in the TAFAZZIN gene, which codes for the protein tafazzin involved in cardiolipin remodeling.
Hana M. Zegallai, Kangmin Duan, Grant M. Hatch   +2 more
doaj   +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

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

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 ...
Li, Kai, He, Aibin, Kelley, Richard I., Kulik, Wim, Pasqualini, Francesco, Wang, Gang, Roberts, Amy E., Yuan, Hongyan, Church, George, Zhang, Donghui, Wang, Jiwu, Parker, Kevin, Chien, Kenneth R., Murry, Charles E., Vaz, Frédéric M., Wanders, Ronald J. A., McCain, Megan L., Geva, Judith, Pu, William, Ma, Qing, Ding, Jian, Wang, Da-zhi, Chen, Jinghai, Laflamme, Michael A., Jiang, Dawei, Zangi, Lior, Yang, Luhan, Agarwal, Ashutosh   +27 more
core   +1 more source

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome. [PDF]

Int J Mol Sci
Barth Syndrome (BTHS) is an early onset, lethal X-linked disorder caused by a mutation in tafazzin (TAFAZZIN), a mitochondrial acyltransferase that remodels monolysocardiolipin (MLCL) to mature cardiolipin (CL) and is essential for normal mitochondrial ...
Raghav R, Awata J, Martin GL, Strathdee D, Blanton RM, Chin MT.   +5 more
europepmc   +3 more sources

Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice

Scientific Reports, 2022
Barth Syndrome (BTHS), a genetic disease associated with early-onset cardioskeletal myopathy, is caused by loss-of-function mutations of the TAFAZZIN gene, which is responsible for remodeling the mitochondrial phospholipid cardiolipin (CL).
Silvia Russo, Domenico De Rasmo, Anna Signorile, Angela Corcelli, Simona Lobasso   +4 more
doaj   +1 more source

Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]

Genes (Basel)
Barth syndrome (BTHS) is inherited through an X-linked pattern. The gene is located on Xq28. Male individuals who inherit the TAFAZZIN pathogenic variant will have the associated condition, while female individuals who inherit the TAFAZZIN pathogenic ...
Sergi CM.
europepmc   +2 more sources

Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites

Frontiers in Pediatrics, 2022
Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features.
Xuliang Zhao, Xu Li, Weiwei Sun, Jian-an Jia, Min Yu, Ruixia Tian   +5 more
doaj   +1 more source

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

, 2014
Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering ...
Amy E Roberts, Qing Ma, He, Aibin, Laflamme, Michael A, Hongyan Yuan, Frédéric M Vaz, Kelley, Richard I., Wim Kulik, Pu, William T, Jian Ding, Megan L McCain, Lior Zangi, Donghui Zhang, Vaz, Frédéric M, Zhang, Donghui, Wang, Jiwu, Wanders, Ronald J A, Gang Wang, Da-Zhi Wang, Chien, Kenneth R., Dawei Jiang, Murry, Charles E., Chien, Kenneth R, Vaz, Frédéric M., Wanders, Ronald J. A., Kevin Kit Parker, Charles E Murry, Kai Li, Ashutosh Agarwal, Ding, Jian, McCain, Megan L, Chen, Jinghai, Parker, Kevin Kit, Roberts, Amy E, Jiang, Dawei, Church, George M., Zangi, Lior, Francesco Silvio Pasqualini, Pu, William T., Yang, Luhan, Murry, Charles E, Li, Kai, Michael A Laflamme, Kenneth R Chien, William T Pu, Kulik, Wim, Wang, Gang, Roberts, Amy E., Wang, Da-Zhi, Ronald J A Wanders, Yuan, Hongyan, Aibin He, Jinghai Chen, Judith Geva, Church, George M, Luhan Yang, Richard I Kelley, Jiwu Wang, Pasqualini, Francesco Silvio, George M Church, McCain, Megan L., Geva, Judith, Ma, Qing, Laflamme, Michael A., Kelley, Richard I, Agarwal, Ashutosh   +65 more
core   +2 more sources