Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.
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DOI: 10.1093/hmg/ddae152
Abstract: 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… read more here.
Keywords: stem cell; barth syndrome; tissue specific; taz deficient ... See more keywords