Laura Silvestri

Publications

• A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2
• A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis
• Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: evidence from a murine model
• The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes
• Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin
• Limiting hepatic Bmp-Smad signaling by matriptase-2 is required for erythropoietin-mediated Hepcidin suppression in mice
• The mutual control of iron and erythropoiesis
• Bmp6 expression in murine liver non parenchymal cells: A mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?
• Comment on: PACE4 (PCSK6): Another proprotein convertase linked to iron homeostasis?
• Identification of TMPRSS6 cleavage sites of hemojuvelin
• 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
• Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype
• Circulating factors are involved in hypoxia-induced hepcidin suppression
• Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency Anemia patients and genotype-phenotype studies
• The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice
• The extrahepatic role of TFR2 in iron homeostasis
• A Strong Anti-Inflammatory Signature Revealed by Liver Transcription Profiling of Tmprss6-/- Mice
• How to Assess Causality of TMPRSS6 Mutations?
• Inhibiting the hepcidin inhibitor for treatment of iron overload
• Iron refractory iron deficiency anemia
• Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia
• Serum levels of the hepcidin-20 isoform in a large general population: The Val Borbera study
• Low hepcidin accounts for the proinflammatory status associated with iron deficiency
• Molecular mechanisms regulating hepcidin revealed by hepcidin disorders
• Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity
• Iron metabolism and iron disorders revisited in the hepcidin era
• NCOA4-mediated ferritinophagy in macrophages is crucial to sustain erythropoiesis in mice.
• Hemochromatosis proteins are dispensable for the acute hepcidin response to BMP2.
• Hepcidin and Anemia: A Tight Relationship
• Transferrin receptor 2 (Tfr2) genetic deletion makes transfusion‐independent a murine model of transfusion‐dependent β‐thalassemia
• Cell‐type‐specific insights into iron regulatory processes
• Iron biology: the balance matters
• Hepcidin levels predict Covid‐19 severity and mortality in a cohort of hospitalized Italian patients
• Iron and erythropoiesis: A mutual alliance
• The Iron Tale
• CXCL10 levels at hospital admission predict COVID-19 outcome: hierarchical assessment of 53 putative inflammatory biomarkers in an observational study
• FKBP12 inhibits hepcidin expression by modulating BMP receptors interaction and ligand responsiveness in hepatocytes
• Transient decrease of serum iron after acute erythropoietin treatment contributes to hepcidin inhibition by ERFE in mice
• Tamoxifen erythroid toxicity revealed by studying the role of nuclear receptor co-activator 4 in erythropoiesis
• Iron Metabolism in Aging
• Cellular and animal models for the investigation of β-thalassemia
• Hepcidin and the BMP-SMAD pathway: An unexpected liaison
• Consensus Statement on the definition and classification of metabolic hyperferritinaemia
• Author Correction: Consensus Statement on the definition and classification of metabolic hyperferritinaemia (Nature Reviews Endocrinology, (2023), 19, 5, (299-310), 10.1038/s41574-023-00807-6)
• The mutual crosstalk between iron and erythropoiesis
• A single approach to targeting transferrin receptor 2 corrects iron and erythropoietic defects in murine models of anemia of inflammation and chronic kidney disease
• Flavor of Iron at EHA2023: Novel Regulatory Mechanisms and Therapeutic Options for the Correction of Anemia
• Managing the Dual Nature of Iron to Preserve Health
• Iron is a modifier of the phenotypes of JAK2-mutant myeloproliferative neoplasms
• Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts
• Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice
• TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals
• Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response
• New and old players in the hepcidin pathway
• The Serine Protease Matriptase-2 (TMPRSS6) Inhibits Hepcidin Activation by Cleaving Membrane Hemojuvelin
• Novel TMPRSS6 mutations associated with Iron-refractory Iron Deficiency Anemia (IRIDA)
• Polarization dictates iron handling by inflammatory and alternatively activated macrophages
• 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
• Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia
• A potential pathogenetic role of iron in Alzheimer's disease
• Furin-mediated release of soluble hemojuvelin: A new link between hypoxia and iron homeostasis
• Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2
• Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
• Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis
• Noncoding RNA synthesis and loss of polycomb group repression accompanies the colinear activation of the human HOXA cluster
• The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload
• Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
• CYP enzyme polymorphisms and susceptibility to HCV-related chronic liver disease and liver cancer
• Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients
• Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
• Polymorphisms of microsomal epoxide hydrolase gene and severity of HCV-related liver disease
• A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo
• Ironing erythroid cells takes FLG1 and ERFE to tango
• Bone marrow Tfr2 deletion improves the therapeutic efficacy of the activin‐receptor ligand trap RAP‐536 in β‐thalassemic mice