{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zakrzewski P"],"funding":["Medical Research Foundation","GW4-CAT Wellcome Trust Clinical PhD fellowship","NHS Blood and Transplant R&D grant","NIHR BTRU in partnership with NHSBT","Barth Syndrome Foundation","Bristol and Weston Hospitals Charity","CRUK Scotland Institute core funding","Wellcome Trust Dynamic Cell PhD studentship","Wellcome Trust","NHS Blood and Transplant R&D grant","Medical Research Foundation (MRF)"],"pagination":["1590-1619"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11933368"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(6)"],"pubmed_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 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 of TAFAZZIN in neutrophils and their progenitors. We demonstrate a partial cell intrinsic differentiation defect, along with a dysregulated neutrophil inflammatory response in BTHS, including elevated degranulation and formation of neutrophil extracellular traps (NETs) in response to ca"],"journal":["EMBO reports"],"pubmed_title":["Tafazzin regulates neutrophil maturation and inflammatory response."],"pmcid":["PMC11933368"],"funding_grant_id":["IS-BTU-1214-10032","MR/R02149X/1","A31287","WP15-05"],"pubmed_authors":["Zakrzewski P","Amulic B","Groves SJ","Toye AM","Steward C","Cela D","Strathdee D","Nobbs AH","Gibbs W","Fleming K","Pike T","Anderson E","Roberts K","Rice CM","Ponce-Garcia FM"],"additional_accession":[]},"is_claimable":false,"name":"Tafazzin regulates neutrophil maturation and inflammatory response.","description":"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 and functional characterization of circulating BTHS patient neutrophils to investigate the role of TAFAZZIN in neutrophils and their progenitors. We demonstrate a partial cell intrinsic differentiation defect, along with a dysregulated neutrophil inflammatory response in BTHS, including elevated degranulation and formation of neutrophil extracellular traps (NETs) in response to ca","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-02T21:12:32.111Z","creation":"2026-05-29T03:06:29.046Z"},"accession":"S-EPMC11933368","cross_references":{"pubmed":["39962231"],"doi":["10.1038/s44319-025-00393-w"]}}