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Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide
Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A. Dermal fibroblasts from these patients...
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| 發表在: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Cold Spring Harbor Laboratory Press
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5171694/ https://ncbi.nlm.nih.gov/pubmed/28050601 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001339 |
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