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Dr. Blobel’s research has helped lead to a more detailed understanding of human physiology and pathology. Mutations in the bar code result in protein mistargeting, which in turn causes numerous abnormalities and diseases. Several forms of leukemia are caused by chromosome translocations in which chromosomes are broken at loci coding for nups, yielding fusion proteins containing only a portion of the nup. At least eight rare genetic diseases, termed laminopathies, are based on mutations in the lamin A gene. For reasons yet unknown and dependent on the location of the mutation in the lamin A gene, certain neurons, fat or muscle cells die. Günter Blobel was a Silesian German and American biologist and 1999 Nobel Prize laureate in Physiology for the discovery that proteins have intrinsic signals that govern their transport and localization in the cell.
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论文共 65 篇作者统计合作学者相似作者
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
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Natureno. 7676 (2017): 366-370
Ke Liu,Xiangyan Sun,Jun Ma,Zhenyu Zhou, Qilin Dong, Shengwen Peng,Junqiu Wu,Suocheng Tan,Günter Blobel,Jie Fan
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