Search Results - "Moulouel, Boualem"
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Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria
Published in Haematologica (Roma) (01-03-2021)“…Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by impaired activity of uroporphyrinogen III synthase, the fourth enzyme…”
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Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Published in Metabolites (23-11-2021)“…Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells. The…”
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Management of erythropoietic protoporphyria with cholestatic liver disease: A case report
Published in Molecular genetics and metabolism reports (01-12-2023)“…Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX…”
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Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model
Published in Haematologica (Roma) (01-02-2017)“…Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of…”
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The Calcium-Dependent Interaction between S100B and the Mitochondrial AAA ATPase ATAD3A and the Role of This Complex in the Cytoplasmic Processing of ATAD3A
Published in Molecular and Cellular Biology (01-06-2010)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Quantification of Urine and Plasma Porphyrin Precursors Using LC–MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients
Published in Clinical chemistry (Baltimore, Md.) (03-10-2023)“…Abstract Background The quantification of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine are the first-line tests for diagnosis and…”
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GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia
Published in Molecular genetics and metabolism (01-11-2019)“…Non-syndromic microcytic congenital sideroblastic anemia (cSA) is predominantly caused by defective genes encoding for either ALAS2, the first enzyme of heme…”
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Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans
Published in Gastroenterology (New York, N.Y. 1943) (01-03-2016)“…Background & Aims Hereditary hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron overload. It is caused by…”
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Givosiran in acute intermittent porphyria: A personalized medicine approach
Published in Molecular genetics and metabolism (01-03-2022)“…In patients with acute intermittent porphyria (AIP), induction of delta aminolevulinic acid synthase 1 (ALAS1) leads to haem precursor accumulation that may…”
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Hepcidin regulates intrarenal iron handling at the distal nephron
Published in Kidney international (01-10-2013)“…Hepcidin, the key regulatory hormone of iron homeostasis, and iron carriers such as transferrin receptor1 (TFR1), divalent metal transporter1 (DMT1), and…”
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Evaluation of iron metabolism in hospitalized COVID-19 patients
Published in Clinica chimica acta (01-08-2023)“…•Iron metabolism is profoundly modified in COVID-19 patients.•IL-6, ferritin, and glycosylated ferritin are independently and significantly associated with…”
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Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria
Published in American journal of human genetics (07-02-2019)“…Erythropoietic protoporphyria (EPP) is a hereditary disease characterized by a deficiency in ferrochelatase (FECH) activity. FECH activity is responsible for…”
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Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli
Published in Journal of the American Society of Nephrology (01-03-2016)“…The iron-regulatory peptide hepcidin exhibits antimicrobial activity. Having previously shown hepcidin expression in the kidney, we addressed its role in…”
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Management of erythropoietic protoporphyria with cholestatic liver disease: A case report
Published in Molecular genetics and metabolism reports (01-12-2023)“…Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX…”
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