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挖掘疾病模型的力量:转化医学的魅力。

Gained in translation: The power of digging deep into disease models.

机构信息

Department of Biochemistry and Molecular Biology, Robert Wood Johnson Medical School, Rutgers University, Piscataway, New Jersey 08854

出版信息

J Biol Chem. 2019 Sep 27;294(39):14201-14202. doi: 10.1074/jbc.H119.010864.

Abstract

Mutations affecting the SECISBP2 protein necessary for selenocysteine incorporation are linked to human disease, but with a wide range of clinical outcomes. To gain insight into this diversity, Zhao dissect the phenotypic and molecular consequences of two specific mutations in the gene that partially disrupt selenoprotein synthesis. They observe surprising tissue-dependent effects, emphasizing the complexities of translational science.

摘要

影响 SECISBP2 蛋白的突变与人类疾病有关,但临床结果差异很大。为了深入了解这种多样性,Zhao 分析了该基因中两个特定突变的表型和分子后果,这些突变部分破坏了硒蛋白的合成。他们观察到令人惊讶的组织依赖性影响,强调了翻译科学的复杂性。

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本文引用的文献

1
Ribosome profiling of selenoproteins reveals consequences of pathogenic missense mutations.
J Biol Chem. 2019 Sep 27;294(39):14185-14200. doi: 10.1074/jbc.RA119.009369. Epub 2019 Jul 26.
2
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.
Free Radic Biol Med. 2018 Nov 1;127:206-214. doi: 10.1016/j.freeradbiomed.2018.04.572. Epub 2018 Apr 27.
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