Tafazzin regulates neutrophil maturation and inflammatory response
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DOI: 10.1038/s44319-025-00393-w
Abstract: Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy. Neutropenia in BTHS is associated with life-threatening infections, yet there is… read more here.
Keywords: tafazzin regulates; neutrophil maturation; response; tafazzin ... See more keywords
What Links Neutropenia to Immature Cardiolipin in Patients with Barth Syndrome (tafazzin-deficiency)?
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DOI: 10.1182/blood-2019-123680
Abstract: Barth syndrome is an inherited X-linked disorder characterized by cardiomyopathy, skeletal muscle myopathy, and neutropenia. The syndrome arises because of inherited mutations in the gene TAZ, resulting in a loss of function of the protein… read more here.
Keywords: barth syndrome; cardiolipin; tafazzin; tafazzin deficiency ... See more keywords
Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies—A Comprehensive Narrative Review
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DOI: 10.3390/genes16040465
Abstract: Barth syndrome (BTHS) is inherited through an X-linked pattern. The gene is located on Xq28. Male individuals who inherit the TAFAZZIN pathogenic variant will have the associated condition, while female individuals who inherit the TAFAZZIN… read more here.
Keywords: syndrome tafazzin; tafazzin; barth syndrome; gene ... See more keywords