Results 31 to 40 of about 505 (112)

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells [PDF]

Scientific Reports
Barth syndrome (BTHS) is a rare disorder caused by mutations in the TAFAZZIN gene. Previous studies from both patients and model systems have established metabolic dysregulation as a core component of BTHS pathology.
Zhuqing Liang, Tyler Ralph-Epps, Michael W. Schmidtke, Pablo Lazcano, Simone W. Denis, Mária Balážová, Nevton Teixeira da Rosa, Mohamed Chakkour, Sanaa Hazime, Mindong Ren, Michael Schlame, Riekelt H. Houtkooper, Miriam L. Greenberg   +12 more
doaj   +2 more sources

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells. [PDF]

FASEB J
Deficiency of the cardiolipin remodeling enzyme TAFAZZIN causes Barth syndrome (BTHS), resulting in cardiolipin loss, monolysocardiolipin (MLCL) accumulation, and electron transport chain (ETC) abnormalities in B‐lymphoblastoid cells. Effects of the non‐psychotropic phytocannabinoid cannabidiol (CBD) were examined on B‐lymphoblastoid cells from ...
Chan JZ, Berdeklis AN, Liu MR, Rahman FA, Tomczewski MV, Graham MQ, Musa M, Cocco AD, Stark KD, Quadrilatero J, Duncan RE.   +10 more
europepmc   +2 more sources

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly
Matias C, Snider PL, Sierra Potchanant EA, Huot JR, Raghav R, Chin MT, Conway SJ, Brault JJ.   +7 more
europepmc   +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

Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model. [PDF]

FASEB J
Barth syndrome (BTHS) is a rare disease caused by mutations in the tafazzin gene that affects the heart and muscles, but till date, no clinically effective drugs. Using Barth syndrome myopathy in human‐ iPS‐derived disease cells and Drosophila melanogaster model, a new mitochondria‐homing drug MA‐5, improves BTHS dysfunction and may serve as a new ...
Tongu Y, Kasahara T, Matsuhashi T, Oikawa Y, Akimoto R, Luo Y, Sekine S, Suzuki M, Kashiwagi H, Kanno S, Tanaka Y, Sato K, Okubo Y, Muto A, Tokuno H, Suzuki C, Kawabe C, Ishikawa T, Watanabe S, Kikuchi K, Itai S, Sato T, Suzuki T, Igarashi K, Fukuda S, Soga T, Murayama K, Kuranaga E, Toyohara T, Abe T.   +29 more
europepmc   +2 more sources

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases. [PDF]

Adv Sci (Weinh)
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Singh P, Tahavvori A, Kuschner CE, Espin BB, Kazmi J, Ramos SV, Yin T, Hayashida K, Ito-Hagiwara K, Endo Y, Yoshioka K, Hagiwara J, Sohi A, Oropallo A, Haddad G, Li T, Becker LB, Kim J.   +17 more
europepmc   +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

Genotype-Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations. [PDF]

Health Sci Rep
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Nazir A, Sarwar AH, Nazar R, Shahab SH, Manan S, Rafique H, Khan AT, Shubietah A, Zaidi SRH, Khan B.   +9 more
europepmc   +2 more sources

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

Molecular Genetics and Metabolism Reports, 2020
Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism.
W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds   +8 more
doaj   +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