Mechanisms of cellular iron sensing, regulation of erythropoiesis and mitochondrial iron utilization

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

(2021) Sarah Ducamp et al.   HAEMATOLOGICA

Phase I/II study of the oral HIF-2 α inhibitor MK-6482 in patients with advanced clear cell renal cell carcinoma (RCC).

(2020) Toni K. Choueiri et al.   JOURNAL OF CLINICAL ONCOLOGY

FBXL5 Regulates IRP2 Stability in Iron Homeostasis via an Oxygen-Responsive [2Fe2S] Cluster

(2020) Hui Wang et al.   MOLECULAR CELL

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis

(2020) Nunziata Maio et al.   TRENDS IN BIOCHEMICAL SCIENCES

Irp2 regulates insulin production through iron-mediated Cdkal1-catalyzed tRNA modification

(2020) Maria C. Ferreira dos Santos et al.   Nature Communications

The Genomics and Genetics of Oxygen Homeostasis

(2020) Gregg L. Semenza   Annual Review of Genomics and Human Genetics

Mammalian iron–sulfur cluster biogenesis: Recent insights into the roles of frataxin, acyl carrier protein and ATPase-mediated transfer to recipient proteins

(2020) Nunziata Maio et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

How Oxidation of a Unique Iron-Sulfur Cluster in FBXL5 Regulates IRP2 Levels and Promotes Regulation of Iron Metabolism Proteins

(2020) Tracey A. Rouault et al.   MOLECULAR CELL

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

(2020) Gudjon R. Oskarsson et al.   Communications Biology

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia

(2020) Andrew Crispin et al.   JOURNAL OF CLINICAL INVESTIGATION

Therapeutic inhibition of HIF2α reverses polycythemia and pulmonary hypertension in murine models of two human diseases

(2020) Manik C Ghosh et al.   BLOOD

Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase

(2020) Gang Liu et al.   Nature Communications

NCOA4 maintains murine erythropoiesis via cell autonomous and non-autonomous mechanisms

(2019) Naiara Santana-Codina et al.   HAEMATOLOGICA

Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis

(2019) Nunziata Maio et al.   HAEMATOLOGICA

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome

(2019) Gregory Costain et al.   BRAIN

The indispensable role of mammalian iron sulfur proteins in function and regulation of multiple diverse metabolic pathways

(2019) Tracey A. Rouault   BIOMETALS

Genetic basis of unexplained erythrocytosis in Indian patients

(2019) Nabhajit Mallik et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

IREB2-associated neurodegeneration

(2019) Monica S Cooper et al.   BRAIN

Reply: IREB2-associated neurodegeneration

(2019) Nunziata Maio et al.   BRAIN

3-[(1S,2S,3R)-2,3-Difluoro-1-hydroxy-7-methylsulfonylindan-4-yl]oxy-5-fluorobenzonitrile (PT2977), a Hypoxia-Inducible Factor 2α (HIF-2α) Inhibitor for the Treatment of Clear Cell Renal Cell Carcinoma

(2019) Rui Xu et al.   JOURNAL OF MEDICINAL CHEMISTRY

Suppression of HIF2 signalling attenuates the initiation of hypoxia-induced pulmonary hypertension

(2019) Cheng-Jun Hu et al.   EUROPEAN RESPIRATORY JOURNAL

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience

(2018) Jennifer L. Oliveira et al.   AMERICAN JOURNAL OF HEMATOLOGY

Therapeutic Targeting of Vascular Remodeling and Right Heart Failure in PAH with HIF-2α Inhibitor

(2018) Zhiyu Dai et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report

(2018) Ying Pang et al.   BMC CANCER

The flux of iron through ferritin in erythrocyte development

(2018) Caroline C. Philpott   CURRENT OPINION IN HEMATOLOGY

Cytosolic HSC20 integrates de novo iron–sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients

(2018) Ki Soon Kim et al.   HUMAN MOLECULAR GENETICS

Genetic basis of congenital erythrocytosis

(2018) C. Bento   International Journal of Laboratory Hematology

Acute loss of iron–sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells

(2018) Daniel R. Crooks et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia

(2018) Manik C. Ghosh et al.   JOURNAL OF CLINICAL INVESTIGATION

A Gain-of-Function Mutation in EPO in Familial Erythrocytosis

(2018) Jakub Zmajkovic et al.   NEW ENGLAND JOURNAL OF MEDICINE

Erythrocytic ferroportin reduces intracellular iron accumulation, hemolysis, and malaria risk

(2018) De-Liang Zhang et al.   SCIENCE

Ferroportin deficiency in erythroid cells causes serum iron deficiency and promotes hemolysis due to oxidative stress

(2018) De-Liang Zhang et al.   BLOOD

The molecular genetics of sideroblastic anemia

(2018) Sarah Ducamp et al.   BLOOD

Ferroportin disease: pathogenesis, diagnosis and treatment

(2017) Antonello Pietrangelo   HAEMATOLOGICA

Iron–sulfur cluster biogenesis and trafficking in mitochondria

(2017) Joseph J. Braymer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Biogenesis and functions of mammalian iron-sulfur proteins in the regulation of iron homeostasis and pivotal metabolic pathways

(2017) Tracey A. Rouault et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PCBP1 and NCOA4 regulate erythroid iron storage and heme biosynthesis

(2017) Moon-Suhn Ryu et al.   JOURNAL OF CLINICAL INVESTIGATION

Intracellular iron and heme trafficking and metabolism in developing erythroblasts

(2017) Martin D. Kafina et al.   Metallomics

Thyroid hormone receptor beta and NCOA4 regulate terminal erythrocyte differentiation

(2017) Xiaofei Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ferroportin disease: pathogenesis, diagnosis and treatment

(2017) Antonello Pietrangelo   HAEMATOLOGICA

Reassessing the Structure and Function Relationship of the O2 Sensing Transcription Factor FNR

(2017) Erin L. Mettert et al.   ANTIOXIDANTS & REDOX SIGNALING

RadicalS-Adenosylmethionine Enzymes in Human Health and Disease

(2016) Bradley J. Landgraf et al.   Annual Review of Biochemistry

Advances in understanding erythropoiesis: evolving perspectives

(2016) Satish K. Nandakumar et al.   BRITISH JOURNAL OF HAEMATOLOGY

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

(2016) Nunziata Maio et al.   Cell Metabolism

Mitochondrial iron overload: causes and consequences

(2016) Tracey A Rouault   CURRENT OPINION IN GENETICS & DEVELOPMENT

Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis

(2016) Yoshiko Kubota et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mammalian Fe–S proteins: definition of a consensus motif recognized by the co-chaperone HSC20

(2016) N. Maio et al.   Metallomics

NCOA4 Deficiency Impairs Systemic Iron Homeostasis

(2016) Roberto Bellelli et al.   Cell Reports

Iron –sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery

(2015) Nunziata Maio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

(2015) K. Schmitz-Abe et al.   BLOOD

The role of mitochondria and the CIA machinery in the maturation of cytosolic and nuclear iron–sulfur proteins

(2015) Roland Lill et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Cytosolic aconitase activity sustains adipogenic capacity of adipose tissue connecting iron metabolism and adipogenesis

(2015) María Moreno et al.   FASEB JOURNAL

Iron misregulation and neurodegenerative disease in mouse models that lack iron regulatory proteins

(2015) Manik C. Ghosh et al.   NEUROBIOLOGY OF DISEASE

Ferritinophagy via NCOA4 is required for erythropoiesis and is regulated by iron dependent HERC2-mediated proteolysis

(2015) Joseph D Mancias et al.   eLife

Cochaperone Binding to LYR Motifs Confers Specificity of Iron Sulfur Cluster Delivery

(2014) Nunziata Maio et al.   Cell Metabolism

Sideroblastic Anemia

(2014) Sylvia S. Bottomley et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Selective VPS34 inhibitor blocks autophagy and uncovers a role for NCOA4 in ferritin degradation and iron homeostasis in vivo

(2014) William E. Dowdle et al.   NATURE CELL BIOLOGY

Abnormal Brain Iron Metabolism in Irp2 Deficient Mice Is Associated with Mild Neurological and Behavioral Impairments

(2014) Kimberly B. Zumbrennen-Bullough et al.   PLoS One

The physiological functions of iron regulatory proteins in iron homeostasis - an update

(2014) De-Liang Zhang et al.   Frontiers in Pharmacology

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation

(2014) Alain Martelli et al.   Frontiers in Pharmacology

The IRP/IRE system in vivo: insights from mouse models

(2014) Nicole Wilkinson et al.   Frontiers in Pharmacology

IRP1 regulates erythropoiesis and systemic iron homeostasis by controlling HIF2  mRNA translation

(2013) N. Wilkinson et al.   BLOOD

The IRP1-HIF-2α Axis Coordinates Iron and Oxygen Sensing with Erythropoiesis and Iron Absorption

(2013) Sheila A. Anderson et al.   Cell Metabolism

Deletion of Iron Regulatory Protein 1 Causes Polycythemia and Pulmonary Hypertension in Mice through Translational Derepression of HIF2α

(2013) Manik C. Ghosh et al.   Cell Metabolism

Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron–sulfur cluster depletion in human skeletal muscle

(2013) Daniel R. Crooks et al.   HUMAN MOLECULAR GENETICS

Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function

(2013) D. Casarrubea et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

The L-Cysteine Desulfurase NFS1 Is Localized in the Cytosol where it Provides the Sulfur for Molybdenum Cofactor Biosynthesis in Humans

(2013) Zvonimir Marelja et al.   PLoS One

Hypoxia-Inducible Factors in Physiology and Medicine

(2012) Gregg L. Semenza   CELL

Expression and function of nuclear receptor co-activator 4: evidence of a potential role independent of co-activator activity

(2012) Alexandra Kollara et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

(2012) T. A. Rouault   Disease Models & Mechanisms

Hepcidin regulates ferroportin expression and intracellular iron homeostasis of erythroblasts

(2011) D.-L. Zhang et al.   BLOOD

Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins

(2011) M. Sanchez et al.   BLOOD

Iron Insufficiency Compromises Motor Neurons and Their Mitochondrial Function in Irp2-Null Mice

(2011) Suh Young Jeong et al.   PLoS One

Ferrochelatase forms an oligomeric complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthesis

(2010) W. Chen et al.   BLOOD

Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron–sulfur cluster biogenesis

(2010) Helge Uhrigshardt et al.   HUMAN MOLECULAR GENETICS

Iron and Porphyrin Trafficking in Heme Biogenesis

(2010) Iman J. Schultz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Hong Ye et al.   JOURNAL OF CLINICAL INVESTIGATION

Ferroportin disease: A systematic meta-analysis of clinical and molecular findings

(2010) Roman Mayr et al.   JOURNAL OF HEPATOLOGY

The Matrix Peptide Exporter HAF-1 Signals a Mitochondrial UPR by Activating the Transcription Factor ZC376.7 in C. elegans

(2010) Cole M. Haynes et al.   MOLECULAR CELL

Biophysical Characterization of the Iron in Mitochondria from Atm1p-DepletedSaccharomyces cerevisiae

(2009) Ren Miao et al.   BIOCHEMISTRY

Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

(2009) D. R. Crooks et al.   BLOOD

A Ferroportin Transcript that Lacks an Iron-Responsive Element Enables Duodenal and Erythroid Precursor Cells to Evade Translational Repression

(2009) De-Liang Zhang et al.   Cell Metabolism

Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis

(2009) Y. Shi et al.   HUMAN MOLECULAR GENETICS

Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

(2009) M. L.-H. Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An E3 Ligase Possessing an Iron-Responsive Hemerythrin Domain Is a Regulator of Iron Homeostasis

(2009) A. A. Salahudeen et al.   SCIENCE

Control of Iron Homeostasis by an Iron-Regulated Ubiquitin Ligase

(2009) A. A. Vashisht et al.   SCIENCE

A Novel Role for Human Nfs1 in the Cytoplasm

(2008) Zvonimir Marelja et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cellular and Mitochondrial Remodeling upon Defects in Iron-Sulfur Protein Biogenesis

(2008) Anja Hausmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin

(2008) Jianyu Zheng et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Small-Molecule Inhibitors of HIF-2a Translation Link Its 5′UTR Iron-Responsive Element to Oxygen Sensing

(2008) Michael Zimmer et al.   MOLECULAR CELL

Oxygen Sensing by Metazoans: The Central Role of the HIF Hydroxylase Pathway

(2008) William G. Kaelin et al.   MOLECULAR CELL

Tempol-mediated activation of latent iron regulatory protein activity prevents symptoms of neurodegenerative disease in IRP2 knockout mice

(2008) M. C. Ghosh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evidence for differential effects of hepcidin in macrophages and intestinal epithelial cells

(2007) T Chaston et al.   GUT