Results 61 to 70 of about 2,620 (178)
Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome
EMBO Molecular Medicine, 2023 Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin.
Arpita Chowdhury +20 more
doaj +1 more source
TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome [PDF]
, 2020 Tafazzin, which is encoded by the TAZ gene, catalyzes transacylation to form mature cardiolipin and shows preference for the transfer of a linoleic acid (LA) group from phosphatidylcholine (PC) to monolysocardiolipin (MLCL) with influence from ...
Ping, Peipei +11 more
core +1 more source
Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome
PLoS ONE, 2023 Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
George G. Schweitzer +7 more
doaj
Frontiers in Pediatrics, 2023 BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
Nicola Tovaglieri +4 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust +15 more
wiley +1 more source
The Journal of Pathology: Clinical Research, Volume 12, Issue 4, July 2026.Abstract Desmoplasia, characterized by excessive expansion of cancer‐associated fibroblasts (CAFs) and aberrant extracellular matrix (ECM) deposition, is widely present especially in invasive cancers. The extranodal extension (ENE) of nodal metastasis involves the extension of invasive tumor cells through the lymph node capsule into the perinodal ...
Qian Zhang +6 more
wiley +1 more source
Health Science Reports, Volume 9, Issue 5, May 2026.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.
Abubakar Nazir +9 more
wiley +1 more source
Tafazzin regulates the function of lipopolysaccharide activated B lymphocytes in mice [PDF]
, 2021 Abstract B lymphocytes are responsible for humoral immunity and play a key role in the immune response. Optimal mitochondrial function is required to support B cell activity during activation. We examined how deficiency of tafazzin, a cardiolipin remodeling enzyme required for mitochondrial function, alters the metabolic activity of B ...
Hana M. Zegallai +7 more
openaire +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Kexin Fu +7 more
wiley +1 more source
New C-Terminal Conserved Regions of Tafazzin, a Catalyst of Cardiolipin Remodeling [PDF]
Oxidative Medicine and Cellular Longevity, 2019 Cardiolipin interacts with many proteins of the mitochondrial inner membrane and, together with cytochrome C and creatine kinase, activates them. It can be considered as an integrating factor for components of the mitochondrial respiratory chain, which provides for an efficient transfer of electrons and protons.
Gregory A. Shilovsky +6 more
openaire +2 more sources