Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia
Mitochondrion(2020)
摘要
•NDUFAF4 deficiency impairs the formation of complex I–containing supercomplexes.•SCIII2IV1 supercomplexes are accumulated in NDUFAF4 patient fibroblasts.
更多查看译文
关键词
3-MGA,3-MGA-uria,AR,BN-PAGE,FF,IGA,OMIM,OXPHOS,PDH,SC,SDS-PAGE,WES
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要