Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase.
作者信息
Houten Sander M
机构信息
Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA.
出版信息
J Inherit Metab Dis. 2017 Nov;40(6):755-756. doi: 10.1007/s10545-017-0090-y. Epub 2017 Sep 21.
Abstract
摘要
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Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.Sengers 综合征相关的线粒体酰基甘油激酶是人类 TIM22 蛋白导入复合物的一个亚基。
Mol Cell. 2017 Aug 3;67(3):457-470.e5. doi: 10.1016/j.molcel.2017.06.014. Epub 2017 Jul 14.
2
Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.Sengers 综合征相关酰基甘油激酶突变体是线粒体 TIM22 蛋白转位酶的亚基。
Mol Cell. 2017 Aug 3;67(3):471-483.e7. doi: 10.1016/j.molcel.2017.06.013. Epub 2017 Jul 14.
3
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.17β-羟类固醇脱氢酶10型的突变或敲低会导致MRPP1缺失以及线粒体重链转录本加工受损。
Hum Mol Genet. 2014 Jul 1;23(13):3618-28. doi: 10.1093/hmg/ddu072. Epub 2014 Feb 18.
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RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.不含RNA的核糖核酸酶P：人线粒体tRNA加工酶的鉴定与功能重建
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