Barth Syndrome Cardiomyopathy: An Update.
Barth Syndrome Cardiomyopathy: An Update.
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Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis. Cardiomyopathy is a major clinical feature of BTHS. During the past four decades, we have witnessed many landmark discoveries that have led to a greater understanding of clinical features of BTHS cardiomyopathy and their molecular basis, as well as the therapeutic targets for this disease. Recently published Taz knockout mouse models provide useful experimental models for studying BTHS cardiomyopathy and testing potential therapeutic approaches. This review aims to summarize key findings of the clinical features, molecular mechanisms, and potential therapeutic approaches for BTHS cardiomyopathy, with particular emphasis on the most recent studies.
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影响因子：
3.7
作者：
Cadalbert LC;Ghaffar FN;Stevenson D;Bryson S;Vaz FM;Gottlieb E;Strathdee D
通讯作者：
Strathdee D
影响因子：
3.7
作者：
Clarke SL;Bowron A;Gonzalez IL;Groves SJ;Newbury-Ecob R;Clayton N;Martin RP;Tsai-Goodman B;Garratt V;Ashworth M;Bowen VM;McCurdy KR;Damin MK;Spencer CT;Toth MJ;Kelley RI;Steward CG
通讯作者：
Steward CG
影响因子：
4.8
作者：
Acehan, Devrim;Vaz, Frederic;Khuchua, Zaza
通讯作者：
Khuchua, Zaza
影响因子：
30.8
作者：
Bione, S;DAdamo, P;Toniolo, D
通讯作者：
Toniolo, D
影响因子：
4.4
作者：
BARTH, PG;SCHOLTE, HR;SOBOTKAPLOJHAR, MA
通讯作者：
SOBOTKAPLOJHAR, MA