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Tafazzin regulates neutrophil maturation and inflammatory response

17 Feb 2025

Abstract excerpt

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 little understanding of the molecular and physiological causes of this phenomenon. We combined bone marrow analysis, CRISPR/Cas9 genome editing in hematopoietic stem cells...

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Share to Blood disorders and treatments
Share to Erythrocyte Function and Pathophysiology
Share to Neutrophil, Myeloperoxidase and Oxidative Mechanisms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39962231
DOI: 10.1038/s44319-025-00393-w

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