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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Bibliographische Detailangaben
Hauptverfasser: Blouin, Jean-Marc, Duchartre, Yann, Costet, Pierre, Lalanne, Magalie, Ged, Cécile, Lain, Ana, Millet, Oscar, de Verneuil, Hubert, Richard, Emmanuel
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2013
Schlagworte:
Biological Sciences
Online Zugang: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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