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Secondary manifestations of mitochondrial disorders
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作者 josef finstererk 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2020年第7期590-592,共3页
Mitochondrial disorders(MIDs)are a heterogeneous group of genetic metabolic diseases due to mutations in the mitochondrial DNA(mtDNA)or in the nuclear DNA(nDNA)(Rahman and Rahman,2018).Some affected genes encode prote... Mitochondrial disorders(MIDs)are a heterogeneous group of genetic metabolic diseases due to mutations in the mitochondrial DNA(mtDNA)or in the nuclear DNA(nDNA)(Rahman and Rahman,2018).Some affected genes encode proteins with various functions,or structural RNAs such as transfer RNAs(tRNAs)and ribosomal RNAs(rRNAs).MIDs may also be caused by mutations in non-coding regions(e.g.,D-loop of mtDNA)(Rahman and Rahman,2018).Proteins involved in MIDs include enzymes,assembling factors,transport proteins,signaling proteins,pore proteins,and fusion/fission proteins(Gorman et al.,2016). 展开更多
关键词 线粒体疾病(MID) 核DNA(nDNA) 多重由线粒体DNA缺失 表型 多系统参与
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