Results 41 to 50 of about 1,210,543 (141)

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

Journal of Lipid Research, 2005
Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL).
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz   +10 more
doaj   +2 more sources

Expanded-access use of elamipretide in a critically ill patient with Barth syndrome [PDF]

Genetics in Medicine Open
Purpose: Barth syndrome (BTHS; OMIM #302060) is a rare disease characterized by cardiolipin abnormalities and cardiomyopathy, intermittent neutropenia and skeletal myopathy among other defects.
Amy C. Goldstein, Cassandra Pantano, Mariya Redko, Laura E. MacMullen, Katsuhide Maeda, Matthew J. O’Connor   +5 more
doaj   +2 more sources

The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility [PDF]

Journal of Developmental Biology
Barth syndrome (BTHS) is a rare, infantile-onset, X-linked mitochondriopathy exhibiting a variable presentation of failure to thrive, growth insufficiency, skeletal myopathy, neutropenia, and heart anomalies due to mitochondrial dysfunction secondary to ...
Paige L. Snider, Elizabeth A. Sierra Potchanant, Catalina Matias, Donna M. Edwards, Jeffrey J. Brault, Simon J. Conway   +5 more
doaj   +2 more sources

Quality of life in Barth syndrome

Therapeutic Advances in Rare Disease, 2022
Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population.
Alexander Y. Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil, Brittany Hornby   +4 more
doaj   +1 more source

Barth Syndrome Cardiomyopathy: An Update

, 2022
Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis.
Kalia Mitchell-Silbaugh, Xi Fang, Jennifer Veevers, Yutong Bao, Jing Pang   +4 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

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
doaj   +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

“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