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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Main Authors: Blouin, Jean-Marc, Duchartre, Yann, Costet, Pierre, Lalanne, Magalie, Ged, Cécile, Lain, Ana, Millet, Oscar, de Verneuil, Hubert, Richard, Emmanuel
Formáid: Artigo
Teanga:Inglês
Foilsithe: National Academy of Sciences 2013
Ábhair:
Biological Sciences
Rochtain Ar Líne: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
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla