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Article

CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 Mar 2021

Liu Xin-Yi, Chen Xue-Jiao, Zhao Miao, Wang Zhi-Qiang, Chen Hai-Zhu, Li Hong-Fu, Wang Chen-Ji, Wu Shi-Fei, Peng Chao, Yin Yue, Fu Hong-Xia, Lin Min-Ting, Yu Long, Xiong Zhi-Qi, Wu Zhi-Ying, Wang Ning

Abstract excerpt

Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common form of lipid storage myopathy. The disease is mainly caused by mutations in electron-transfer flavoprotein dehydrogenase gene (ETFDH), which leads to decreased levels of ETF:QO in skeletal muscle. However, the specific underlying mechanisms triggering such degradation remain unknown. We constructed expression plasmids containing wild...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33438237
DOI: 10.1002/jimd.12361

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