Results 11 to 20 of about 809 (138)

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

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene

Molecular Genetics & Genomic Medicine, 2023
Barth syndrome (BTHS) is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3‐methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafazzin and is ...
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo   +12 more
doaj   +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

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue. [PDF]

EMBO Mol Med
Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Schomakers BV, Passadouro AS, Trętowicz MM, Simpson PJ, Jaspers YRJ, van Weeghel M, Hu IM, Lamboo CME, Cloutier D, Byrne BJ, van Klinken JB, Janssen PML, Piersma SR, Jimenez CR, Vaz FM, Salomons GS, van der Velden J, Houtkooper RH, Mosegaard S.   +18 more
europepmc   +2 more sources

Tafazzin regulates neutrophil maturation and inflammatory response. [PDF]

EMBO Rep
Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy.
Zakrzewski P, Rice CM, Fleming K, Cela D, Groves SJ, Ponce-Garcia FM, Gibbs W, Roberts K, Pike T, Strathdee D, Anderson E, Nobbs AH, Toye AM, Steward C, Amulic B.   +14 more
europepmc   +3 more sources

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

Biology (Basel), 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.
Zegallai HM, Duan K, Hatch GM.
europepmc   +2 more sources

Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome. [PDF]

J Mol Cell Cardiol Plus
Barth syndrome (BTHS) is a mitochondrial lipid disorder caused by mutations in TAFAZZIN (TAZ), required for cardiolipin (CL) remodeling. Cardiomyopathy is a major clinical feature, with no curative therapy.
Zhu S, Pang J, Nguyen A, Huynh H, Lee S, Gu Y, Vaz FM, Fang X.   +7 more
europepmc   +2 more sources

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation. [PDF]

Front Cardiovasc Med
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria.
Che M, Li F, Jia Y, Liu Q, Hu J, Zhang J, Liu S.   +6 more
europepmc   +2 more sources

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome. [PDF]

Exp Mol Med
Barth syndrome (BTHS) is an ultrarare, infantile-onset, X-linked recessive mitochondrial disorder that primarily affects males, owing to mutations in TAFAZZIN, which catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for ...
Kim YS, Yoo S, Jung YJ, Yoon JW, Kwon YS, Lee N, Cheon CK, Kim JH.   +7 more
europepmc   +2 more sources

Cardiolipin acyl chain composition tailors the conformation of mammalian ATP synthase dimers. [PDF]

Commun Chem
The interplay between ATP synthase dimers and the four-tailed lipid cardiolipin (CL) shapes mitochondrial cristae structure and function. In the mitochondrial disorder Barth syndrome (BTHS), cristae membranes accumulate a less unsaturated, three-tailed ...
Makowski M, Almendro-Vedia VG, López-Montero I.   +2 more
europepmc   +2 more sources