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Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in massive porphyrin accumulation in blood cells, which is responsible for hemolytic anemia and skin photosensitivity. Among the missense mutati...
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| Main Authors: | , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
National Academy of Sciences
2013
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3831495/ https://ncbi.nlm.nih.gov/pubmed/24145442 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1314177110 |
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