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Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition

21 Feb 2017

Abstract excerpt

Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cutaneous photosensitivity. We analyzed here the molecular basis of UROS impairment associated with twenty nine UROS missense mutations actually described in CEP...

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Share to Heme Oxygenase-1 and Carbon Monoxide
Share to Neonatal Health and Biochemistry
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PMID: 28334762
DOI: 10.1093/hmg/ddx067

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