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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Bibliografiska uppgifter
Huvudupphovsmän: Blouin, Jean-Marc, Duchartre, Yann, Costet, Pierre, Lalanne, Magalie, Ged, Cécile, Lain, Ana, Millet, Oscar, de Verneuil, Hubert, Richard, Emmanuel
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2013
Ämnen:
Biological Sciences
Länkar: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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