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(HFE protein)
3,345 results
  • Bone morphogenic proteins in iron homeostasis. [Review]
    Bone. 2020 Jun 22 [Online ahead of print]Xiao X, Alfaro-Magallanes VM, Babitt JL
  • The bone morphogenetic protein (BMP)-SMAD signaling pathway plays a central role in regulating hepcidin, which is the master hormone governing systemic iron homeostasis. Hepcidin is produced by the liver and acts on the iron exporter ferroportin to control iron absorption from the diet and iron release from body stores, thereby providing adequate iron for red blood cell production, while limiting…
  • Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis. [Journal Article]
    Biochim Biophys Acta Mol Basis Dis. 2020 Jun 18; 1866(10):165882.Rishi G, Bhatia M, … Subramaniam VN
  • Peroxisomes are organelles, abundant in the liver, involved in a variety of cellular functions, including fatty acid metabolism, plasmalogen synthesis and metabolism of reactive oxygen species. Several inherited disorders are associated with peroxisomal dysfunction; increasingly many are associated with hepatic pathologies. The liver plays a principal role in regulation of iron metabolism. In thi…
  • Analysis of Natural Killer cell functions in patients with hereditary hemochromatosis. [Journal Article]
    EXCLI J. 2020; 19:430-441.Bönnemann V, Claus M, … Watzl C
  • Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of the iron metabolism. Patients are typically affected by dysregulated iron levels, which can lead to iron accumulation within essential organs, such as liver, heart and pancreas. Furthermore, many HH patients are also afflicted by several immune defects and increased occurrence of autoimmune diseases that are linked to human hom…
  • Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays. [Journal Article]
    Biosci Rep. 2020 May 29; 40(5)Rishi G, Secondes ES, … Subramaniam VN
  • Mutations in the only known iron exporter ferroportin (FPN) in humans are associated with the autosomal dominantly inherited iron overload disorder ferroportin disease or type IV hereditary hemochromatosis (HH). While our knowledge of the central role of FPN in iron homeostasis has grown in the last 20 years, there exist some questions surrounding the structure and membrane topology of FPN with c…
  • Accurate and rapid calculation of hydration free energy and its physical implication for biomolecular functions. [Review]
    Biophys Rev. 2020 Apr; 12(2):469-480.Kinoshita M, Hayashi T
  • Here we review a new method for calculating a hydration free energy (HFE) of a solute and discuss its physical implication for biomolecular functions in aqueous environments. The solute hydration is decomposed into processes 1 and 2. A cavity matching the geometric characteristics of the solute at the atomic level is created in process 1. Solute-water van der Waals and electrostatic interaction p…
  • Hydration properties of a protein at low and high pressures: Physics of pressure denaturation. [Journal Article]
    J Chem Phys. 2020 Feb 14; 152(6):065103.Inoue M, Hayashi T, … Kinoshita M
  • Using experimentally determined structures of ubiquitin at 1 and 3000 bar, we generate sufficiently large ensembles of model structures in the native and pressure-induced (denatured) states by means of molecular dynamics simulations with explicit water. We calculate the values of a free-energy function (FEF), which comprises the hydration free energy (HFE) and the intramolecular (conformational) …
  • The role of hepcidin and iron homeostasis in atherosclerosis. [Review]
    Pharmacol Res. 2020 03; 153:104664.Wunderer F, Traeger L, … Malhotra R
  • Atherosclerotic cardiovascular disease is a major burden on global health and a leading cause of death worldwide. The pathophysiology of this chronic disease is complex, involving inflammation, lipoprotein oxidation and accumulation, plaque formation, and calcification. In 1981, Dr. Jerome Sullivan formulated the 'Iron Hypothesis', suggesting that higher levels of stored iron promote cardiovascul…
  • GeneReviews®: Juvenile Hemochromatosis [BOOK]
    . University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya APiperno A, Bertola F, … Bentivegna ABOOK
  • Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main…
  • Pancytopenia, panhypopituitarism and liver cirrhosis: analysis of a difficult clinical case. [Case Reports]
    Vnitr Lek. 2019 Winter; 65(11):715-720.Polák P, Kamelander J, … Penka M
  • Panhypopituitarism following craniopharyngioma resection has systemic impact with potential influence on physio-logical hematopoiesis. There is a growing body of evidence of liver fibrosis/cirrhosis risk development due to altered metabolism and lipid accumulation. The authors present a case report of a woman with a history of craniopharyngioma resection followed by aggravating pancytopenia with …
  • Impact of HFE variants and sex in lung cancer. [Journal Article]
    PLoS One. 2019; 14(12):e0226821.Lee SY, Walter V, … Connor JR
  • The homeostatic iron regulator protein HFE is involved in regulation of iron acquisition for cells. The prevalence of two common HFE gene variants (H63D, C282Y) has been studied in many cancer types; however, the impact of HFE variants, sex and HFE gene expression in lung cancer has not been studied. We determined the prevalence of HFE variants and their impact on cancer phenotypes in lung cancer…
  • Risk of Kidney Dysfunction IN Nafld. [Journal Article]
    Curr Pharm Des. 2020; 26(10):1045-1061.Mantovani A, Zusi C, … Buzzetti E
  • CONCLUSIONS: Convincing evidence now indicates that CKD is increased among patients with NAFLD. For this reason, patients with NAFLD should be regularly monitored for renal function and, on the other hand , NAFLD should be considered in all patients with CKD, especially if they are obese or have type 2 diabetes.
  • Microbial Metabolite Signaling Is Required for Systemic Iron Homeostasis. [Journal Article]
    Cell Metab. 2020 Jan 07; 31(1):115-130.e6.Das NK, Schwartz AJ, … Shah YM
  • Iron is a central micronutrient needed by all living organisms. Competition for iron in the intestinal tract is essential for the maintenance of indigenous microbial populations and for host health. How symbiotic relationships between hosts and native microbes persist during times of iron limitation is unclear. Here, we demonstrate that indigenous bacteria possess an iron-dependent mechanism that…
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