Results 21 to 30 of about 817 (152)

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome. [PDF]

Diabetologia
Aims/hypothesis Barth syndrome is a mitochondrial disorder caused by Tafazzin (TAZ) mutations, which impair cardiolipin remodelling and contribute to systemic metabolic alterations.
Carlein C, Hoffmann MDA, Bickelmann C, Amaral AG, Lotfinia A, de Selliers LA, Audouze-Chaud J, Wrublewsky S, Lauterbach MA, von der Malsburg K, van der Laan M, Bozem M, Hoth M, Gilon P, Ravier MA, Morgan B, Ampofo E, Higuchi T, Bertero E, Dudek J, Maack C, Roma LP.   +21 more
europepmc   +3 more sources

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome. [PDF]

Front Pediatr, 2023
BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
Tovaglieri N, Russo S, Micaglio E, Corcelli A, Lobasso S.   +4 more
europepmc   +3 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

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

Cardiolipin remodeling maintains the inner mitochondrial membrane in cells with saturated lipidomes. [PDF]

J Lipid Res
Cardiolipin (CL) is a unique, four-chain phospholipid synthesized in the inner mitochondrial membrane (IMM). The acyl chain composition of CL is regulated through a remodeling pathway, whose loss causes mitochondrial dysfunction in Barth syndrome (BTHS).
Venkatraman K, Budin I.
europepmc   +3 more sources

Barth syndrome

Orphanet Journal of Rare Diseases, 2013
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA ...
Clarke Sarah LN, Bowron Ann, Gonzalez Iris L, Groves Sarah J, Newbury-Ecob Ruth, Clayton Nicol, Martin Robin P, Tsai-Goodman Beverly, Garratt Vanessa, Ashworth Michael, Bowen Valerie M, McCurdy Katherine R, Damin Michaela K, Spencer Carolyn T, Toth Matthew J, Kelley Richard I, Steward Colin G   +16 more
doaj   +3 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