Martina U Muckenthaler

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. ncbi request reprint Physiologic systemic iron metabolism in mice deficient for duodenal Hfe
    Maja Vujic Spasic
    Molecular Medicine Partnership Unit, University of Heidelberg, Germany
    Blood 109:4511-7. 2007
  2. doi request reprint Fine tuning of hepcidin expression by positive and negative regulators
    Martina U Muckenthaler
    Department of Pediatric Oncology, Haematology and Immunology, University Hospital of Heidelberg, Molecular Medicine Partnership Unit, Im Neuenheimer Feld 156, 69120 Heidelberg, Germany
    Cell Metab 8:1-3. 2008
  3. doi request reprint Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD
    Guillem Casanovas
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 153, 69120, Heidelberg, Germany
    J Mol Med (Berl) 87:471-80. 2009
  4. pmc Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder
    Gunda Millonig
    Center for Alcohol Research and Salem Medical Center, University of Heidelberg, Heidelberg, Germany
    Hum Genomics 4:250-62. 2010
  5. pmc Out of balance--systemic iron homeostasis in iron-related disorders
    Andrea U Steinbicker
    Department of Anesthesiology, Intensive Care and Pain Medicine, University Hospital Muenster, University of Muenster, Muenster 48149, Germany
    Nutrients 5:3034-61. 2013
  6. pmc RNA degradation compromises the reliability of microRNA expression profiling
    David Ibberson
    Genomics Core Facility, EMBL, Meyerhofstrasse 1 D 69117 Heidelberg, Germany
    BMC Biotechnol 9:102. 2009
  7. ncbi request reprint Molecular analysis of iron overload in beta2-microglobulin-deficient mice
    Martina U Muckenthaler
    European Molecular Biology Laboratory, D 69117, Heidelberg, Germany
    Blood Cells Mol Dis 33:125-31. 2004
  8. doi request reprint SMAD7 controls iron metabolism as a potent inhibitor of hepcidin expression
    Katarzyna Mleczko-Sanecka
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Blood 115:2657-65. 2010
  9. doi request reprint Hfe acts in hepatocytes to prevent hemochromatosis
    Maja Vujic Spasic
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, 69120 Heidelberg, Germany
    Cell Metab 7:173-8. 2008
  10. pmc The liver-specific microRNA miR-122 controls systemic iron homeostasis in mice
    Mirco Castoldi
    Department of Pediatric Hematology, Oncology, and Immunology, University of Heidelberg, Heidelberg, Germany
    J Clin Invest 121:1386-96. 2011

Collaborators

Detail Information

Publications57

  1. ncbi request reprint Physiologic systemic iron metabolism in mice deficient for duodenal Hfe
    Maja Vujic Spasic
    Molecular Medicine Partnership Unit, University of Heidelberg, Germany
    Blood 109:4511-7. 2007
    ....
  2. doi request reprint Fine tuning of hepcidin expression by positive and negative regulators
    Martina U Muckenthaler
    Department of Pediatric Oncology, Haematology and Immunology, University Hospital of Heidelberg, Molecular Medicine Partnership Unit, Im Neuenheimer Feld 156, 69120 Heidelberg, Germany
    Cell Metab 8:1-3. 2008
    ..Three recent publications now identify a novel hepcidin suppressor, the transmembrane serine protease TMPRSS6 (also known as matriptase-2), which is required to sense iron deficiency...
  3. doi request reprint Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD
    Guillem Casanovas
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 153, 69120, Heidelberg, Germany
    J Mol Med (Berl) 87:471-80. 2009
    ..As such, they provide important new information furthering our understanding of disorders of iron metabolism and the anemia of inflammation...
  4. pmc Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder
    Gunda Millonig
    Center for Alcohol Research and Salem Medical Center, University of Heidelberg, Heidelberg, Germany
    Hum Genomics 4:250-62. 2010
    ..Patients diagnosed with HHCS should be counselled regarding the relative harmlessness of this genetic disease, with early cataract surgery as the only clinical consequence...
  5. pmc Out of balance--systemic iron homeostasis in iron-related disorders
    Andrea U Steinbicker
    Department of Anesthesiology, Intensive Care and Pain Medicine, University Hospital Muenster, University of Muenster, Muenster 48149, Germany
    Nutrients 5:3034-61. 2013
    ..We discuss how regulatory cues (e.g., iron, inflammation, or hypoxia) affect the hepcidin response and how impairment of the hepcidin/ferroportin regulatory system causes disorders of iron metabolism. ..
  6. pmc RNA degradation compromises the reliability of microRNA expression profiling
    David Ibberson
    Genomics Core Facility, EMBL, Meyerhofstrasse 1 D 69117 Heidelberg, Germany
    BMC Biotechnol 9:102. 2009
    ..Here, we investigate whether experimentally induced RNA degradation affects microRNA expression profiles...
  7. ncbi request reprint Molecular analysis of iron overload in beta2-microglobulin-deficient mice
    Martina U Muckenthaler
    European Molecular Biology Laboratory, D 69117, Heidelberg, Germany
    Blood Cells Mol Dis 33:125-31. 2004
    ....
  8. doi request reprint SMAD7 controls iron metabolism as a potent inhibitor of hepcidin expression
    Katarzyna Mleczko-Sanecka
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Blood 115:2657-65. 2010
    ..This work identifies a potent inhibitory factor for hepcidin expression and uncovers a negative feedback pathway for hepcidin regulation, providing insight into a mechanism how hepcidin expression may be limited to avoid iron deficiency...
  9. doi request reprint Hfe acts in hepatocytes to prevent hemochromatosis
    Maja Vujic Spasic
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, 69120 Heidelberg, Germany
    Cell Metab 7:173-8. 2008
    ..This work demonstrates that local Hfe expression in hepatocytes serves to maintain physiological iron homeostasis, answering a long-standing question in medicine and explaining earlier clinical observations...
  10. pmc The liver-specific microRNA miR-122 controls systemic iron homeostasis in mice
    Mirco Castoldi
    Department of Pediatric Hematology, Oncology, and Immunology, University of Heidelberg, Heidelberg, Germany
    J Clin Invest 121:1386-96. 2011
    ..These data help to explain the increased Hamp mRNA levels and subsequent iron deficiency in mice with reduced miR-122 levels and establish a direct mechanistic link between miR-122 and the regulation of systemic iron metabolism...
  11. doi request reprint Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload
    Maja Vujic Spasic
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, Germany
    Biochim Biophys Acta 1832:76-84. 2013
    ..This suggests that additional pathways contribute to the regulation of hepcidin, Smad6 and Smad7 under these conditions which do not require Hfe...
  12. doi request reprint Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins
    Mayka Sanchez
    European Molecular Biology Laboratory EMBL, Heidelberg, Germany
    Blood 118:e168-79. 2011
    ..This work investigates cellular iron metabolism in unprecedented depth and defines a wide network of mRNAs and proteins with iron-dependent regulation, IRP-dependent regulation, or both...
  13. doi request reprint A bone morphogenetic protein (BMP)-responsive element in the hepcidin promoter controls HFE2-mediated hepatic hepcidin expression and its response to IL-6 in cultured cells
    Maria Vittoria Verga Falzacappa
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg, Germany
    J Mol Med (Berl) 86:531-40. 2008
    ..These data uncover a missing link in the HFE2-mediated control of hepcidin expression and suggest that the BMP-RE controls hepcidin promoter activity mediated by HFE2 and inflammatory stimuli...
  14. doi request reprint The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation
    Flavia D'Alessio
    University of Heidelberg, Department of Pediatric Oncology, Hematology and Immunology, Heidelberg, Germany
    J Hepatol 57:1052-60. 2012
    ..Here, we investigate whether HFE, TfR2, and HJV physically interact on the surface of hepatocytes...
  15. pmc Unbiased RNAi screen for hepcidin regulators links hepcidin suppression to proliferative Ras/RAF and nutrient-dependent mTOR signaling
    Katarzyna Mleczko-Sanecka
    Department of Pediatric Oncology, Hematology and Immunology, and
    Blood 123:1574-85. 2014
    ....
  16. pmc Sustained submicromolar H2O2 levels induce hepcidin via signal transducer and activator of transcription 3 (STAT3)
    Gunda Millonig
    Center for Alcohol Research, University of Heidelberg and Salem Medical Center, 69120 Heidelberg, Germany
    J Biol Chem 287:37472-82. 2012
    ..Our results suggest a novel mechanism of hepcidin regulation by nanomolar levels of sustained H(2)O(2). Thus, similar to cytokines, H(2)O(2) provides an important regulatory link between inflammation and iron metabolism...
  17. ncbi request reprint Iron-regulatory proteins limit hypoxia-inducible factor-2alpha expression in iron deficiency
    Mayka Sanchez
    Molecular Medicine Partnership Unit, Im Neuenheimer Feld 153, 69120 Heidelberg, Germany
    Nat Struct Mol Biol 14:420-6. 2007
    ..They also show that an IRE that is structurally distinct from, for example, the ferritin mRNA IRE and that has been missed by in silico approaches, can mediate mechanistically similar responses...
  18. ncbi request reprint miChip: a microarray platform for expression profiling of microRNAs based on locked nucleic acid (LNA) oligonucleotide capture probes
    Mirco Castoldi
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 156, D 69210 Heidelberg, Germany
    Methods 43:146-52. 2007
    ..Moreover, they enable high affinity hybridizations yielding accurate signals that discriminate between single nucleotide differences and hence closely related miRNA family members...
  19. doi request reprint Downregulation of Notch signaling by gamma-secretase inhibition can abrogate chemotherapy-induced apoptosis in T-ALL cell lines
    Shuangyou Liu
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Ann Hematol 88:613-21. 2009
    ..In conclusion, the data presented here caution against clinical use of a combination treatment of GSI and chemotherapy in T-ALL...
  20. ncbi request reprint STAT3 mediates hepatic hepcidin expression and its inflammatory stimulation
    Maria Vittoria Verga Falzacappa
    Molecular Medicine Partnership Unit, University of Heidelberg, Heidelberg, Germany
    Blood 109:353-8. 2007
    ..These results identify a missing link in the acute-phase activation of hepcidin and establish STAT3 as a key effector of baseline hepcidin expression and during inflammatory conditions...
  21. pmc Hfe deficiency impairs pulmonary neutrophil recruitment in response to inflammation
    Karolína Benesová
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, Heidelberg, Germany
    PLoS ONE 7:e39363. 2012
    ..In conclusion, our findings suggest a novel role for Hfe and/or imbalanced iron homeostasis in the regulation of the inflammatory response in the lung and hereditary hemochromatosis...
  22. pmc NOTCH1 activation clinically antagonizes the unfavorable effect of PTEN inactivation in BFM-treated children with precursor T-cell acute lymphoblastic leukemia
    Obul R Bandapalli
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Haematologica 98:928-36. 2013
    ....
  23. pmc The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays
    Yevhen Vainshtein
    MMPU, Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    BMC Bioinformatics 11:112. 2010
    ..The use of customized DNA microarrays improves overall data quality in many situations, however, only if for these specifically designed microarrays analysis tools are available...
  24. doi request reprint Two to tango: regulation of Mammalian iron metabolism
    Matthias W Hentze
    European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    Cell 142:24-38. 2010
    ..We also highlight some of the current questions in mammalian iron metabolism and discuss therapeutic opportunities arising from a better understanding of the underlying biological principles...
  25. pmc Heme controls ferroportin1 (FPN1) transcription involving Bach1, Nrf2 and a MARE/ARE sequence motif at position -7007 of the FPN1 promoter
    Samuele Marro
    Department of Pediatric Oncology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg, Germany
    Haematologica 95:1261-8. 2010
    ..The aim of this study was to gain insight into the regulatory mechanisms that control the transcriptional response of iron export protein ferroportin to hemoglobin in macrophages...
  26. doi request reprint Systemic iron homeostasis and the iron-responsive element/iron-regulatory protein (IRE/IRP) regulatory network
    Martina U Muckenthaler
    Molecular Medicine Partnership Unit, Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, D 69120 Heidelberg, Germany
    Annu Rev Nutr 28:197-213. 2008
    ..We also discuss how the IRE/IRP regulatory system communicates with the hepcidin/ferroportin system to connect the control networks for systemic and cellular iron balance...
  27. pmc Transforming Growth Factor β1 (TGF-β1) Activates Hepcidin mRNA Expression in Hepatocytes
    Simeng Chen
    From the Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, 69117 Heidelberg, Germany, The Department of Medicine II, Molecular Hepatology, Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany, the Molecular Medicine Partnership Unit, 69120 Heidelberg, Germany, and
    J Biol Chem 291:13160-74. 2016
    ..In conclusion, these data demonstrate that a complex regulatory network involving TGF-β1 and BMP6 may control the sensing of systemic and/or hepatic iron levels...
  28. pmc A novel inflammatory pathway mediating rapid hepcidin-independent hypoferremia
    Claudia Guida
    Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, Heidelberg, Germany European Molecular Biology Laboratory, Heidelberg, Germany
    Blood 125:2265-75. 2015
    ....
  29. doi request reprint Resistance of ferroportin to hepcidin binding causes exocrine pancreatic failure and fatal iron overload
    Sandro Altamura
    Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, INF 350, 69120 Heidelberg, Germany Molecular Medicine Partnership Unit, 69120 Heidelberg, Germany
    Cell Metab 20:359-67. 2014
    ..This work uncovers the critical importance of the hepcidin-ferroportin regulatory axis for life and unveils the sensitivity of the exocrine pancreas to iron overload. ..
  30. ncbi request reprint Balancing acts: molecular control of mammalian iron metabolism
    Matthias W Hentze
    European Molecular Biology Laboratory, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    Cell 117:285-97. 2004
    ..This has provided novel insights into gene regulation and unveiled remarkable links to the immune system...
  31. pmc The murine growth differentiation factor 15 is not essential for systemic iron homeostasis in phlebotomized mice
    Guillem Casanovas
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, Germany
    Haematologica 98:444-7. 2013
    ..We demonstrate that GDF15 suppresses the hepatic mRNA expression of some BMP/TGFβ target genes but not of hepcidin, and show that GDF15 is not required to balance iron homeostasis in response to blood loss...
  32. doi request reprint Novel genomic amplification targeting the microRNA cluster at 19q13.42 in a pediatric embryonal tumor with abundant neuropil and true rosettes
    Stefan Pfister
    Division Molecular Genetics, German Cancer Research Center, Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
    Acta Neuropathol 117:457-64. 2009
    ..In summary, this is the first report on a potentially specific genetic aberration in ETANTR, supporting the hypothesis of a distinct tumor entity...
  33. ncbi request reprint Hepcidin: iron-hormone and anti-microbial peptide
    Maria Vittoria Verga Falzacappa
    University of Heidelberg, Department of Pediatric Oncology, Hematology and Immunology, Im Neuenheimer Feld 153, D 69120 Heidelberg, Germany
    Gene 364:37-44. 2005
    ..The aim of this review is to discuss hepcidin function in iron-homeostasis under normal physiological and pathophysiological conditions...
  34. pmc Mice with hepcidin-resistant ferroportin accumulate iron in the retina
    Milan Theurl
    F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA Department of Ophthalmology and Optometry, Innsbruck Medical University, Innsbruck, Austria Department of Psychiatry and Behavioral Sciences, and Department of Biochemistry and Molecular Biology, University of Florida, Gainesville, Florida, USA Department of Pediatric Hematology, Oncology, and Immunology, University of Heidelberg, Heidelberg, Germany Molecular Medicine Partnership Unit, Heidelberg, Germany and European Molecular Biology Laboratory, Heidelberg, Germany
    FASEB J 30:813-23. 2016
    ..The results suggest that physiologic hepcidin levels are insufficient to alter Fpn levels within the retinal pigment epithelium and Müller cells, but may limit iron transport into the retina from vascular endothelial cells...
  35. doi request reprint Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)
    Laura Tagliaferri
    Department of Pediatric Oncology, Hematology and Immunology, Children s Hospital, University of Heidelberg, Heidelberg, Germany Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Universita degli Studi di Milano, Fondazione IRCCS Ca randa, Ospedale Maggiore Policlinico, Milan, Italy
    Clin Immunol . 2016
    ..In comparison to established methods, our test requires only 25% of the input material, doesn't require DNA purification and significantly reduces time and cost requirement...
  36. doi request reprint Computerized image analysis of iron-stained macrophages
    Karolína Benesová
    Department of Pediatric Oncology, Hematology, Immunology and Pulmonology, University Hospital of Heidelberg, 69120, Heidelberg, Germany
    Ann Hematol 92:1195-9. 2013
    ..In conclusion, computerized image analysis of single cells is a robust and reproducible tool suitable for iron measurements in small sample sets with limited cell yield. ..
  37. doi request reprint Growth differentiation factor 15 in patients with congenital dyserythropoietic anaemia (CDA) type II
    Guillem Casanovas
    Department of Paediatric Oncology, Haematology and Immunology, University of Heidelberg, Germany
    J Mol Med (Berl) 89:811-6. 2011
    ..The observation that GDF15 is elevated in CDAII patients is consistent with the proposal that GDF15 is among the erythroid factors down-regulating hepcidin and contributing to iron overload in conditions of dyserythropoiesis...
  38. ncbi request reprint Identification of target mRNAs of regulatory RNA-binding proteins using mRNP immunopurification and microarrays
    Mayka Sanchez
    Molecular Medicine Partnership Unit MMPU, Im Neuenheimer Feld 153, 69120 Heidelberg, Germany
    Nat Protoc 2:2033-42. 2007
    ..The mRNA composition of the supernatant and/or immunoprecipitated fraction is analyzed using dual-color microarrays in comparison with control reaction. From start to finish, the protocol takes approximately 6 d...
  39. ncbi request reprint Iron regulation and the cell cycle: identification of an iron-responsive element in the 3'-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy
    Mayka Sanchez
    European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    J Biol Chem 281:22865-74. 2006
    ..This work describes a new experimental strategy to explore the IRE/IRP regulatory network and uncovers a previously unrecognized regulatory link between iron metabolism and the cell cycle...
  40. pmc A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
    Sandro Altamura
    Department of Pediatric Oncology, Haematology and Immunology, University Hospital of Heidelberg, Germany
    Biochem J 431:363-71. 2010
    ..As a consequence, hepcidin mRNA expression is increased, causing the clinical symptoms observed in this IRIDA patient. The present study provides important mechanistic insight into how TMPRSS6 is activated...
  41. doi request reprint SELDI-TOF MS detection of urinary hepcidin
    Sandro Altamura
    Department of Pediatric Oncology, Haematology and Immunology, University Hospital of Heidelberg Molecular Medicine Partnership Unit, Im Neuenheimer Feld 156, 69120 Heidelberg, Germany
    Biochimie 91:1335-8. 2009
    ..Application of this modified hepcidin assay accurately detects increased hepcidin levels in the urine of sepsis patients...
  42. pmc A multi-scale model of hepcidin promoter regulation reveals factors controlling systemic iron homeostasis
    Guillem Casanovas
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, Heidelberg, Germany Molecular Medicine Partnership Unit, Heidelberg, Germany European Molecular Biology Laboratory, Heidelberg, Germany
    PLoS Comput Biol 10:e1003421. 2014
    ..This may explain why inflammatory signals disturb iron homeostasis in anemia of inflammation. Taken together, our results reveal why the iron homeostasis circuit is sensitive to perturbations implicated in disease. ..
  43. pmc A sensitive array for microRNA expression profiling (miChip) based on locked nucleic acids (LNA)
    Mirco Castoldi
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany
    RNA 12:913-20. 2006
    ..The superior detection sensitivity eliminates the need for RNA size selection and/or amplification. MiChip will greatly simplify miRNA expression profiling of biological and clinical samples...
  44. doi request reprint High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response
    Marc Remke
    German Cancer Research Center DKFZ, Division Molecular Genetics, Heidelberg, Germany
    Blood 114:1053-62. 2009
    ..The data presented here implicate the TGF-beta and PI3K-AKT pathways in T-ALL leukemogenesis and identify a subgroup of patients with CASP8AP2 deletions and poor early treatment response...
  45. doi request reprint Iron toxicity in diseases of aging: Alzheimer's disease, Parkinson's disease and atherosclerosis
    Sandro Altamura
    Department of Pediatric Oncology, Haematology and Immunology, University Hospital of Heidelberg, Molecular Medicine Partnership Unit, Heidelberg, Germany
    J Alzheimers Dis 16:879-95. 2009
    ..We will review experimental evidences for an involvement of iron in these diseases and discuss some mouse models with impairment in iron-related genes that may be useful to study the role of iron in these disorders...
  46. pmc Hemopexin therapy reverts heme-induced proinflammatory phenotypic switching of macrophages in a mouse model of sickle cell disease
    Francesca Vinchi
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany Molecular Medicine Partnership Unit, Heidelberg University and European Molecular Biology Laboratory, Heidelberg, Germany Molecular Biotechnology Center and Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino, Italy
    Blood 127:473-86. 2016
    ..Taken together, our data suggest that therapeutic administration of hemopexin is beneficial to counteract heme-driven macrophage-mediated inflammation and its pathophysiologic consequences in sickle cell disease. ..
  47. doi request reprint Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening
    Joachim B Kunz
    Department of Pediatric Oncology, Hematology, Oncology and Immunology, University of Heidelberg, Im Neuenheimer Feld 430, D 69120, Heidelberg, Germany
    Ann Hematol 95:397-402. 2016
    ..Together with previously published even higher results from exclusively urban populations in Berlin and Hamburg, our data provide the basis for the decision on a newborn screening program for SCD in Germany. ..
  48. doi request reprint Regulation of iron homeostasis by microRNAs
    Mirco Castoldi
    Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, 69120, Heidelberg, Germany
    Cell Mol Life Sci 69:3945-52. 2012
    ..MicroRNAs control genes involved in some of these processes adding an additional level of complexity to the regulation of iron metabolism. This review summarizes recent advances how miRNAs regulate iron homeostasis. ..
  49. ncbi request reprint Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia
    Stephen Breit
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, D 69120 Heidelberg, Germany
    Blood 108:1151-7. 2006
    ..These findings indicate that in the context of the ALL-BFM 2000 treatment strategy, NOTCH1 mutations predict a more rapid early treatment response and a favorable long-term outcome in children with T-ALL...
  50. ncbi request reprint An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Cindy N Roy
    Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 36:481-5. 2004
    ..These data suggest a previously unidentified role for Hfe in innate immunity and ACD...
  51. ncbi request reprint Mild copper deficiency alters gene expression of proteins involved in iron metabolism
    Sylvain Auclair
    Centre de Recherche en Nutrition Humaine d Auvergne, Unité des Maladies Métaboliques et Micronutriments, INRA, Theix, 63122 St Genes Champanelle, France
    Blood Cells Mol Dis 36:15-20. 2006
    ..These results suggest that copper-deficient mice respond to the deficiency induced anemia by an adaptation leading to an increase in erythrocyte synthesis...
  52. ncbi request reprint Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1
    Susanne Ludwiczek
    Department of General Internal Medicine, Clinical Immunology and Infectious Diseases, Innsbruck Medical University, Anichstr 35, A 6020 Innsbruck, Austria
    Nat Med 13:448-54. 2007
    ..Modulation of DMT-1 function by L-type calcium channel blockers emerges as a new pharmacological therapy for the treatment of iron overload disorders...
  53. ncbi request reprint Lack of haptoglobin affects iron transport across duodenum by modulating ferroportin expression
    Samuele Marro
    Department of Genetics, Biology and Biochemistry, and Molecular Biotechnology Center, University of Torino, Torino, Italy
    Gastroenterology 133:1261-1271. 2007
    ..Here, we report the analysis of iron homeostasis in haptoglobin-null mice...
  54. ncbi request reprint Lipooligosaccharide-independent alteration of cellular homeostasis in Neisseria meningitidis-infected epithelial cells
    Robert A Bonnah
    Vaccine and Gene Therapy Institute, Portland, OR, USA
    Cell Microbiol 7:869-85. 2005
    ..However, TNFalpha induction and changes in iron homeostasis observed in MC-infected epithelial cells are independent of LOS...
  55. ncbi request reprint Expression of epithelial cell iron-related genes upon infection by Neisseria meningitidis
    Robert A Bonnah
    Vaccine and Gene Therapy Institute, Oregon Health and Sciences University, Portland, OR, USA
    Cell Microbiol 6:473-84. 2004
    ..This finding suggests that low IRP activity may be responsible in part for the decrease in TfR-1 mRNA levels. A discussion of these novel findings in relation to MC infection and virulence is provided...
  56. pmc Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element?
    Melanie J Percy
    Blood 110:2776-7. 2007
  57. doi request reprint 2-Oxoglutarate-dependent oxygenases control hepcidin gene expression
    Georgia G Braliou
    Laboratory of Biochemistry, Department of Medicine, University of Thessaly, 22 Papakyriazi Street, Larissa, Greece
    J Hepatol 48:801-10. 2008
    ..We investigated the involvement of 2-oxoglutarate-dependent oxygenases, HIF-1 and other transcription factors in the hypoxic suppression of hepcidin...