about
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasisLoss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegiaFunctional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studiesGlutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblastsMolecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemiaBmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelinIdentification of TMPRSS6 cleavage sites of hemojuvelinMutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.Low hepcidin accounts for the proinflammatory status associated with iron deficiency.Polarization dictates iron handling by inflammatory and alternatively activated macrophages.The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice.Regulation of cell surface transferrin receptor-2 by iron-dependent cleavage and release of a soluble form.The second transferrin receptor regulates red blood cell production in mice.Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia.Iron refractory iron deficiency anemiaLimiting hepatic Bmp-Smad signaling by matriptase-2 is required for erythropoietin-mediated hepcidin suppression in mice.The extrahepatic role of TFR2 in iron homeostasis.The mutual control of iron and erythropoiesis.Circulating factors are involved in hypoxia-induced hepcidin suppression.The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice.Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster.A potential pathogenetic role of iron in Alzheimer's disease.Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signaling. Implications for transferrin-dependent hepcidin regulation.Comment on: PACE4 (PCSK6): another proprotein convertase linked to iron homeostasis?Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice.Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.Molecular mechanisms regulating hepcidin revealed by hepcidin disorders.Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: evidence from a murine modelDefective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosisTransient decrease of serum iron after acute erythropoietin treatment contributes to hepcidin inhibition by ERFE in miceA severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosisBone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacityNew and old players in the hepcidin pathway
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Laura Silvestri
@ast
Laura Silvestri
@en
Laura Silvestri
@es
Laura Silvestri
@nl
Laura Silvestri
@sl
type
label
Laura Silvestri
@ast
Laura Silvestri
@en
Laura Silvestri
@es
Laura Silvestri
@nl
Laura Silvestri
@sl
prefLabel
Laura Silvestri
@ast
Laura Silvestri
@en
Laura Silvestri
@es
Laura Silvestri
@nl
Laura Silvestri
@sl
P106
P21
P31
P496
0000-0002-8726-9808