2024
DOI: 10.1101/2024.06.05.24307331
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Tafazzin regulates neutrophil maturation and inflammatory response

Przemysław Zakrzewski,
Christopher M. Rice,
Kathryn Fleming
et al.

Abstract: Barth syndrome (BTHS) is a rare genetic disease caused by mutations in theTAFAZZINgene. 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 and functional characterization of circulating BTHS patient neutrophils to investigate the role ofTA… Show more

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