List of works - Laura Silvestri

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

scientific article published on 5 May 2017

A potential pathogenetic role of iron in Alzheimer's disease.

scientific article published on May 2008

A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis

scientific article published on 27 April 2018

A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice.

scientific article

Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?

scientific article (publication date: 2015)

Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity

scientific article published on 25 February 2019

Circulating factors are involved in hypoxia-induced hepcidin suppression.

scientific article

Comment on: PACE4 (PCSK6): another proprotein convertase linked to iron homeostasis?

scientific article published on September 2015

Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis

scientific article published on 30 January 2007

Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia.

scientific article

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

scientific article published on 12 November 2015

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies

scientific article

Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis

scientific article

Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.

scientific article published in October 2003

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

scientific article

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

scientific article

Hepcidin and the BMP-SMAD pathway: An unexpected liaison

scientific article published on 10 February 2019

Hepcidin levels predict COVID-19 severity and mortality in a cohort of hospitalized Italian patients

scientific article published on 19 October 2020

Identification of TMPRSS6 cleavage sites of hemojuvelin

scientific article

Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice.

scientific article published on August 2010

Inhibiting the hepcidin inhibitor for treatment of iron overload ⬇️

scientific article published on February 14, 2013

Iron refractory iron deficiency anemia

scientific article published on June 2013

Limiting hepatic Bmp-Smad signaling by matriptase-2 is required for erythropoietin-mediated hepcidin suppression in mice

scientific article published on 11 January 2016

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

scientific article

Low hepcidin accounts for the proinflammatory status associated with iron deficiency.

scientific article

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

scientific article

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

scientific article

Molecular mechanisms regulating hepcidin revealed by hepcidin disorders.

scientific article published on 7 July 2011

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

scientific article

New and old players in the hepcidin pathway

scientific article published on 01 October 2008

Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster

scientific article published on 21 December 2006

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

scientific article published in May 2010

Polarization dictates iron handling by inflammatory and alternatively activated macrophages

scientific article

Regulation of cell surface transferrin receptor-2 by iron-dependent cleavage and release of a soluble form.

scientific article

TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals ⬇️

scientific article published on August 26, 2011

Tamoxifen erythroid toxicity revealed by studying the role of nuclear receptor co-activator 4 in erythropoiesis

scientific article published on 01 August 2019

The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice.

scientific article published on 21 March 2014

The extrahepatic role of TFR2 in iron homeostasis.

scientific article published on 07 May 2014

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

scientific article

The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.

scientific article published in September 2017

The mutual control of iron and erythropoiesis.

scientific article published on 9 May 2016

The second transferrin receptor regulates red blood cell production in mice

scientific article

The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin

scientific journal article

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.

scientific article published on 15 July 2010

Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: evidence from a murine model

scientific article published on 12 September 2018

Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype

scientific article published on 17 November 2015

Transient decrease of serum iron after acute erythropoietin treatment contributes to hepcidin inhibition by ERFE in mice

scientific article published on 28 September 2018

List of works by Laura Silvestri

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

A potential pathogenetic role of iron in Alzheimer's disease.

A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis

A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice.

Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?

Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity

Circulating factors are involved in hypoxia-induced hepcidin suppression.

Comment on: PACE4 (PCSK6): another proprotein convertase linked to iron homeostasis?

Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis

Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia.

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

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies

Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis

Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

Hepcidin and the BMP-SMAD pathway: An unexpected liaison

Hepcidin levels predict COVID-19 severity and mortality in a cohort of hospitalized Italian patients

Identification of TMPRSS6 cleavage sites of hemojuvelin

Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice.

Inhibiting the hepcidin inhibitor for treatment of iron overload ⬇️

Iron refractory iron deficiency anemia

Limiting hepatic Bmp-Smad signaling by matriptase-2 is required for erythropoietin-mediated hepcidin suppression in mice

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

Low hepcidin accounts for the proinflammatory status associated with iron deficiency.

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

Molecular mechanisms regulating hepcidin revealed by hepcidin disorders.

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

New and old players in the hepcidin pathway

Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

Polarization dictates iron handling by inflammatory and alternatively activated macrophages

Regulation of cell surface transferrin receptor-2 by iron-dependent cleavage and release of a soluble form.

TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals ⬇️

Tamoxifen erythroid toxicity revealed by studying the role of nuclear receptor co-activator 4 in erythropoiesis

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.

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.

The mutual control of iron and erythropoiesis.

The second transferrin receptor regulates red blood cell production in mice

The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin

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.

Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: evidence from a murine model

Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype

Transient decrease of serum iron after acute erythropoietin treatment contributes to hepcidin inhibition by ERFE in mice