A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
出版年份 2017 全文链接
标题
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 26, Issue 13, Pages 2541-2550
出版商
Oxford University Press (OUP)
发表日期
2017-04-21
DOI
10.1093/hmg/ddx152
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex
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- Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit
- (2010) Sven Dennerlein et al. BIOCHEMICAL JOURNAL
- ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation
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