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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Dettagli Bibliografici
Pubblicato in:Sci Adv
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Association for the Advancement of Science 2019
Soggetti:
Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6750912/
https://ncbi.nlm.nih.gov/pubmed/31555729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciadv.aaw6127
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