| Key Genes FECH and ALAS2 under Acute High-Altitude Exposure: A Gene Expression and Network Analysis Based on Expression Profile Data. | Key Genes FECH and ALAS2 under Acute High-Altitude Exposure: A Gene Expression and Network Analysis Based on Expression Profile Data.
Zhao Y, Zhu L, Shi D, Gao J, Fan M., Free PMC Article | 10/9/2024 |
| Nkx3-1 and Fech genes might be switch genes involved in pituitary non-functioning adenoma invasiveness. | Nkx3-1 and Fech genes might be switch genes involved in pituitary non-functioning adenoma invasiveness.
Khayer N, Jalessi M, Jahanbakhshi A, Tabib Khooei A, Mirzaie M., Free PMC Article | 01/22/2022 |
| Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation. | Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
Lanzafame M, Branca G, Landi C, Qiang M, Vaz B, Nardo T, Ferri D, Mura M, Iben S, Stefanini M, Peverali FA, Bini L, Orioli D., Free PMC Article | 12/25/2021 |
| Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria. | Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria.
Saito A, Okiyama N, Inoue S, Kubota N, Nakamura Y, Ishitsuka Y, Watanabe R, Nakano H, Fujisawa Y. | 01/16/2021 |
| This study demonstrates that FECH activity is an important determinant of tumor response to deferoxamine treatment. | Ferrochelatase Deficiency Abrogated the Enhancement of Aminolevulinic Acid-mediated Protoporphyrin IX by Iron Chelator Deferoxamine.
Palasuberniam P, Kraus D, Mansi M, Braun A, Howley R, Myers KA, Chen B., Free PMC Article | 08/1/2020 |
| These results expand the molecular heterogeneity of the erythropoietic porphyrias by adding a total of 20 novel mutations in ferrochelatase. | Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y, Balwani M, Chen B, Yasuda M, Nazarenko I, Desnick RJ. | 07/4/2020 |
| Our data show that there is a metabolic link between the activity ferrochelatase and levels of MFRN1 mRNA. We examined the correlation between ferrochelatase activity and MFRN1 mRNA in cell lines established from patients with the classical protoporphyria. | Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.
Phillips J, Farrell C, Wang Y, Singal AK, Anderson K, Balwani M, Bissell M, Bonkovsky H, Seay T, Paw B, Desnick R, Bloomer J., Free PMC Article | 07/4/2020 |
| Study reports evidence of a deep intronic variant causing erythropoietic protoporphyria. The c.464-1169 A>C intronic substitution (p.Ala155ValfsTer22) disrupts, likely through the institution of new methylated CpG site, an exonic splicing silencer site causing the insertion of a "cryptic exon" containing a stop codon, in the mature FECH transcript. | Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.
Chiara M, Primon I, Tarantini L, Agnelli L, Brancaleoni V, Granata F, Bollati V, Di Pierro E. | 06/13/2020 |
| Follow-up joint ancestry-SNP association analyses identified novel variants in ferrochelatase (FECH), significantly associated with AHI and percentage time SaO2 < 90% after adjusting for multiple tests (P < 8 x 10-6) | Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.
Wang H, Cade BE, Sofer T, Sands SA, Chen H, Browning SR, Stilp AM, Louie TL, Thornton TA, Johnson WC, Below JE, Conomos MP, Evans DS, Gharib SA, Guo X, Wood AC, Mei H, Yaffe K, Loredo JS, Ramos AR, Barrett-Connor E, Ancoli-Israel S, Zee PC, Arens R, Shah NA, Taylor KD, Tranah GJ, Stone KL, Hanis CL, Wilson JG, Gottlieb DJ, Patel SR, Rice K, Post WS, Rotter JI, Sunyaev SR, Cai J, Lin X, Purcell SM, Laurie CC, Saxena R, Redline S, Zhu X., Free PMC Article | 06/22/2019 |
| FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity | FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity.
Yien YY, Shi J, Chen C, Cheung JTM, Grillo AS, Shrestha R, Li L, Zhang X, Kafina MD, Kingsley PD, King MJ, Ablain J, Li H, Zon LI, Palis J, Burke MD, Bauer DE, Orkin SH, Koehler CM, Phillips JD, Kaplan J, Ward DM, Lodish HF, Paw BH., Free PMC Article | 04/20/2019 |
| The results of FECH gene expression suggested that the homozygosity for the c.315-48T>C variant could be considered pathological. Thus, this study identified the homozygotes for the c.315-48T>C variant as pathological. By extension, when the samples were categorised according to the haplotypes, the GTC haplotype in homozygosis was pathological. | Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
Brancaleoni V, Granata F, Missineo P, Fustinoni S, Graziadei G, Di Pierro E. | 03/23/2019 |
| FECH mRNA was largely significantly decreased in colon adenocarcinomas relative to normal colon tissues. | Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Kadara H, Nemer G, Safi R, Rebeiz N, Daou L, Delbani D, Btadini W, Abbas O, Tofaili M, Bitar F, Kibbi AG, Shimomura Y, Kurban M. | 06/2/2018 |
| Using a forward chemical genetic approach, the authors identified the heme synthesis enzyme ferrochelatase (FECH) as necessary for angiogenesis in vitro and in vivo FECH is overexpressed in wet age-related macular degeneration eyes and murine choroidal neovascularization. | Ferrochelatase is a therapeutic target for ocular neovascularization.
Basavarajappa HD, Sulaiman RS, Qi X, Shetty T, Sheik Pran Babu S, Sishtla KL, Lee B, Quigley J, Alkhairy S, Briggs CM, Gupta K, Tang B, Shadmand M, Grant MB, Boulton ME, Seo SY, Corson TW., Free PMC Article | 02/24/2018 |
| Using surface plasmon resonance, physiologically relevant concentrations of isatin (25-100 muM) were found to increase affinity of interactions between human recombinant ferrochelatase (FECH) and NADPH-dependent adrenodoxin reductase (ADR). | Isatin-induced increase in the affinity of human ferrochelatase and adrenodoxin reductase interaction.
Ershov P, Mezentsev Y, Gilep A, Usanov S, Buneeva O, Medvedev A, Ivanov A., Free PMC Article | 12/16/2017 |
| In this study, QM/MM and quantum mechanical thermodynamic cycle perturbation free energy calculations were performed to investigate the porphyrin metalation in human ferrochelatase. It suggests a most reasonable pathway including the steps of the ferrous iron approaching from the site with Met76 coordinated and His263 playing the role of accepting proton. | Human Ferrochelatase: Insights for the Mechanism of Ferrous Iron Approaching Protoporphyrin IX by QM/MM and QTCP Free Energy Studies.
Wu J, Wen S, Zhou Y, Chao H, Shen Y. | 07/22/2017 |
| These findings suggest that homozygous polymorphism of the FECH gene is associated with a slight elevation of the protoporphyrin level in erythrocytes, resulting in a mild EPP phenotype | Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Mizawa M, Makino T, Nakano H, Sawamura D, Shimizu T. | 12/17/2016 |
| a novel mutation, c.84G >A, in the FECH gene in four individuals with Erythropoietic Protoporphyria, is reported. | A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Farrag MS, Kučerová J, Šlachtová L, Šeda O, Šperl J, Martásek P. | 10/22/2016 |
| High ferrochelatase expression is associated with growth of malarial parasites in erythropoietic protoporphyria patients. | Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.
Smith CM, Jerkovic A, Puy H, Winship I, Deybach JC, Gouya L, van Dooren G, Goodman CD, Sturm A, Manceau H, McFadden GI, David P, Mercereau-Puijalon O, Burgio G, McMorran BJ, Foote SJ., Free PMC Article | 03/21/2015 |
| of ASO-V1 into developing human erythroblasts from an overtly EPP subject markedly increased the production of WT FECH mRNA and reduced the accumulation of PPIX to a level similar to that measured in asymptomatic EPP subjects | Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, Mirmiran A, Peoc'h K, Grandchamp B, Beaumont C, Lyoumi S, Moreau-Gaudry F, Guyonnet-Dupérat V, de Verneuil H, Marie J, Puy H, Deybach JC, Gouya L., Free PMC Article | 05/31/2014 |
| Sequence analysis of the FECH gene identified a novel missense mutation in exon 4 (c.418>A, G140R) of the FECH gene, as well as the common FECH IVS3-48 polymorphism in erythropoietic protoporphyria. | New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.
Azad J, Brennan P, Carmichael AJ. | 02/8/2014 |
| Loss-of-function FECH and gain-of-function erythroid-specific ALAS2 mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. | Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ, Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network., Free PMC Article | 12/28/2013 |
| Sequencing of the ferrochelatase gene did not show a mutation in any of the patients studied. Furthermore, the hypomorphic allele IVS3-48C was absent in all individuals. | Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
Schimmel RJ, Van Tuyll Van Serooskerke AM, Bladergroen RS, Van Steensel AM, van Geel M, Pasmans SG, Frank J. | 12/28/2013 |
| The mutation analysis in the FECH gene identified different genotypes with the t/t genotype, 7 with the t/M genotype, 14 with the c/t genotype and 10 with c/M genotype from different EPP families. | Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene.
Barman J, Schneider-Yin X, Mamet R, Schoenfeld N, Minder EI. | 12/28/2013 |
| Molecular dynamic simulations provided insight into the conformational movements and function of the active site residues of human ferrochelatase. | Investigation by MD simulation of the key residues related to substrate-binding and heme-release in human ferrochelatase.
Wang Y, Wu J, Ju J, Shen Y. | 12/14/2013 |
| function of solvent-filled channels in human ferrochelatase | Identification and characterization of solvent-filled channels in human ferrochelatase.
Medlock AE, Najahi-Missaoui W, Ross TA, Dailey TA, Burch J, O'Brien JR, Lanzilotta WN, Dailey HA., Free PMC Article | 12/8/2012 |