Results 101 to 110 of about 39,836 (205)

Barth syndrome cardiomyopathy

, 2018
Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Dudek, Jan, Maack, Christoph
openaire   +1 more source

Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression

Frontiers in Genetics, 2022
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +1 more source

Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy

Scientific Reports
Barth syndrome is an X-linked syndrome characterized by cardiomyopathy, skeletal myopathy, and neutropenia. This life-threatening disorder results from loss-of-function mutations in TAFAZZIN, which encodes a phospholipid-lysophospholipid transacylase ...
Usua Oyarbide, Rebecca A. Anderson, Igor Radzikh, Jillian V. Kodger, Akshay S. Patil, Morgan Staton, Anny Mulya, Genevieve M. Crane, Silvio Litovsky, Yana Sandlers, Seth J. Corey   +10 more
doaj   +1 more source

Oral Plenary Session 1

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

2026 Pregnancy Meeting™ Oral Abstracts

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

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

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   +1 more source

Psychopathological verbal expression of self-perceived stress in three groups of psychotic patients [PDF]

, 1997
Producción CientíficaSelf-perceived stress in 293 psychotic patients (schizophrenic, toxic and brief reactive psychoses) and a control group of 40 sane individuáis was evaluated by means of the Frankfurt Complaint Questionnaire.
Jimeno Bulnes, Natalia, Jimeno Valdés, Agustín, López Fernández, María Nieves, Vargas Aragón, Martín Lorenzo   +3 more
core   +1 more source

The phospholipase iPLA2γ is a major mediator releasing oxidized aliphatic chains from cardiolipin, integrating mitochondrial bioenergetics and signaling [PDF]

, 2017
Gross, Richard W, Guan, Shaoping, Jenkins, Christopher M, Li, Maoyin, Liu, Gao-Yuan, Moon, Sung Ho, Sims, Harold F   +6 more
core   +2 more sources

Influence af acute iodine incorporation on thyroid function and thyroidal iodine content [PDF]

, 1981
Habermann, J., Leisner, B., Pickardt, C. R., Scriba, Peter Christian, Witte, A.   +4 more
core   +1 more source

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome. [PDF]

Basic Res Cardiol, 2023
Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek J.   +24 more
europepmc   +1 more source