[HTML][HTML] Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria
Y Wang, NB Langer, GC Shaw, G Yang, L Li… - Experimental …, 2011 - Elsevier
OBJECTIVE: Most patients with erythropoietic protoporphyria have deficient ferrochelatase
(FECH) activity due to changes in FECH DNA. We evaluated seven patients with
erythropoietic protoporphyria phenotype in whom abnormalities of FECH DNA were not
found by conventional analysis. The major focus was mitoferrin-1 (MFRN1), the
mitochondrial transporter of Fe used for heme formation by FECH and for 2Fe2S cluster
synthesis, which is critical to FECH activity/stability. MATERIALS AND METHODS: Four …
(FECH) activity due to changes in FECH DNA. We evaluated seven patients with
erythropoietic protoporphyria phenotype in whom abnormalities of FECH DNA were not
found by conventional analysis. The major focus was mitoferrin-1 (MFRN1), the
mitochondrial transporter of Fe used for heme formation by FECH and for 2Fe2S cluster
synthesis, which is critical to FECH activity/stability. MATERIALS AND METHODS: Four …