Results 91 to 100 of about 663 (143)
Case Reports in Immunology, Volume 2026, Issue 1, 2026.Introduction The case report describes a novel finding of a homozygous variant in the coronin 1A (CORO1A) gene, associated with atypical severe combined immunodeficiency (SCID) in a 9‐year‐old female patient with recurrent infections and unique immunological features, including periodic T‐cell lymphocytosis and T‐ and B‐cell lymphopenia.
Alanoud Aljohani +6 more
wiley +1 more source
tafazzin and pla2g6 gene expression in zebrafish organs.
, 2018 The gene expression of (A) tafazzin and (B) pla2g6 are examined by RT-qPCR. The heat map representing gapdh is used as the reference gene.
Jamie Lin (4903615) +6 more
core +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
core +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
core +1 more source
, 2023 Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Robert Wessells, Kristin Richardson
core +1 more source
Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
EMBO Molecular Medicine, 2015 Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek +13 more
doaj +1 more source
Cardiolipin biosynthesis and remodeling enzymes are altered during development of heart failure
Journal of Lipid Research, 2009 Cardiolipin (CL) is responsible for modulation of activities of various enzymes involved in oxidative phosphorylation. Although energy production decreases in heart failure (HF), regulation of cardiolipin during HF development is unknown.
Harjot K. Saini-Chohan +8 more
doaj +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
core +1 more source
Tafazzin (TAZ) promotes the tumorigenicity of cervical cancer cells and inhibits apoptosis
PLOS ONE, 2017 Tafazzin (TAZ) is often aberrantly expressed in some cancers, including rectal cancer and thyroid neoplasms. However, the function of TAZ in cervical cancer cells remains unknown. This study aims to explore the expression and function of TAZ in cervical cancer cells.
Mei Chen, Yuan Zhang, Peng-Sheng Zheng
openaire +4 more sources
Journal of Inborn Errors of Metabolism and Screening, 2015 Mutations in the tafazzin ( TAZ ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial ...
Minal Borkar PhD +6 more
doaj +1 more source