Article

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth Syndrome

2024-04-29

Abstract excerpt

Barth syndrome (BTHS) is a rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN, which leads to abnormal cardiolipin (CL) metabolism on the inner mitochondrial membrane. Although TAFAZZIN is ubiquitously expressed, BTHS involves a complex combination of tissue specific phenotypes including cardiomyopathy, neutropenia, skeletal myopathy, and growth delays, with a relatively minimal neurolo...

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Literature Corpus work: 38da2368-4de0-5219-b1f0-1c537fdd435b
DOI: 10.1101/2024.04.28.591534

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