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The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited disease caused by loss-of-function mutations of ferrochelatase, an enzyme in the heme biosynthesis pathway that converts protoporphyrin IX (PPIX) into heme. PPIX accumulation in patients with EPP leads to phototoxicity and hepatotoxicity, and there...

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Detalles Bibliográficos
Autores principales: Wang, Pengcheng, Sachar, Madhav, Lu, Jie, Shehu, Amina I., Zhu, Junjie, Chen, Jing, Liu, Ke, Anderson, Karl E., Xie, Wen, Gonzalez, Frank J., Klaassen, Curtis D., Ma, Xiaochao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6750912/
https://www.ncbi.nlm.nih.gov/pubmed/31555729
http://dx.doi.org/10.1126/sciadv.aaw6127