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  • 标题:Faulty ribosome biogenesis underlies the ribosomopathy alopecia, neurological defects, endocrinopathy (ANE) syndrome
  • 本地全文:下载
  • 作者:Jennifer L. Gerton
  • 期刊名称:Proceedings of the National Academy of Sciences
  • 印刷版ISSN:0027-8424
  • 电子版ISSN:1091-6490
  • 出版年度:2021
  • 卷号:118
  • 期号:24
  • 页码:1
  • DOI:10.1073/pnas.2107030118
  • 出版社:The National Academy of Sciences of the United States of America
  • 摘要:Most cells spend the vast majority of their energy making ribosomes, the machines that translate messenger RNA into protein. The ribosome is a tremendously elaborate machine comprising over 80 individual ribosomal proteins and four ribosomal RNAs. The biogenesis of these machines requires an additional 200 different factors. This amazing assembly feat is accomplished 30 times per second in a growing yeast cell (1) and 125 times per second in a growing human tissue culture cell (2). Given the complexity, frequency, and significance of the task, it is no wonder that human syndromes exist in which ribosome biogenesis is disrupted by a genetic mutation, such as the one described in PNAS (3).
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