The RNA exosome and RNA exosome-linked disease.
The RNA exosome and RNA exosome-linked disease.
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DOI：
10.1261/rna.064626.117
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Fasken MB
中科院分区：
文献类型：
--
作者：
Morton DJ;Kuiper EG;Jones SK;Leung SW;Corbett AH;Fasken MB
RNA外泌体是一种进化上保守的核糖核酸酶复合物，对于多种RNA的加工和降解都至关重要。与RNA外泌体相关的辅因子可能决定该复合物的底物特异性。最近，编码RNA外泌体结构亚基及其辅因子的基因突变与人类疾病有关。RNA外泌体基因EXOSC 3和EXOSC 8的突变分别导致脑桥小脑发育不全1b型（PCH 1b）和1c型（PCH 1c），这是一种类似的常染色体隐性遗传神经退行性疾病。RNA外泌体基因EXOSC2的突变导致具有各种组织特异性表型的独特综合征，包括视网膜色素变性和轻度智力残疾。编码RNA外泌体辅因子的基因突变也会导致具有复杂表型的组织特异性疾病。这些基因的突变如何引起不同的组织特异性疾病尚不清楚。在这篇综述中，我们讨论了RNA外泌体复合物及其辅助因子在人类疾病中的作用，考虑了与疾病有关的氨基酸变化，并推测了外泌体基因突变可能导致功能障碍和疾病的机制。
The RNA exosome is an evolutionarily conserved, ribonuclease complex that is critical for both processing and degradation of a variety of RNAs. Cofactors that associate with the RNA exosome likely dictate substrate specificity for this complex. Recently, mutations in genes encoding both structural subunits of the RNA exosome and its cofactors have been linked to human disease. Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are similar autosomal-recessive, neurodegenerative diseases. Mutations in the RNA exosome gene EXOSC2 cause a distinct syndrome with various tissue-specific phenotypes including retinitis pigmentosa and mild intellectual disability. Mutations in genes that encode RNA exosome cofactors also cause tissue-specific diseases with complex phenotypes. How mutations in these genes give rise to distinct, tissue-specific diseases is not clear. In this review, we discuss the role of the RNA exosome complex and its cofactors in human disease, consider the amino acid changes that have been implicated in disease, and speculate on the mechanisms by which exosome gene mutations could underlie dysfunction and disease.
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影响因子：
4
作者：
Di Donato, Nataliya;Neuhann, Teresa;Rump, Andreas
通讯作者：
Rump, Andreas
影响因子：
10.5
作者：
Allmang, C;Petfalski, E;Mitchell, P
通讯作者：
Mitchell, P
影响因子：
9.8
作者：
Edvardson, Simon;Shaag, Avraham;Elpeleg, Orly
通讯作者：
Elpeleg, Orly
DOI：
10.1007/978-1-4419-7841-7_8
发表时间：
2010-01-01
期刊：
RNA EXOSOME
影响因子：
--
作者：
Butler, J. Scott;Mitchell, Phil
通讯作者：
Mitchell, Phil
影响因子：
16.8
作者：
Dziembowski, Andrzej;Lorentzen, Esben;Seraphin, Bertrand
通讯作者：
Seraphin, Bertrand