Martina U. Muckenthaler
Heidelberg University
250 Papers
1.9K Citations
Martina U. Muckenthaler is an academic researcher from Heidelberg University. The author has contributed to research in topics: Hepcidin & Medicine. The author has an hindex of 63, co-authored 219 publications. Previous affiliations of Martina U. Muckenthaler include University of Pennsylvania & Boston Children's Hospital.
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Papers
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
Sara Luscieti,Gabriele Tolle,Jessica Aranda,Carmen Benet Campos,Frank Risse,Erica Moran,Martina U. Muckenthaler,Mayka Sanchez +7 more
TL;DR: Two novel mutations in the IRE of L-Ferritin causing HHCS are identified: the Badalona +36C > U and the Heidelberg +52 G > C mutation and both conferred reduced binding affinity on recombinant Iron Regulatory Proteins in EMSA experiments.
Fine Tuning of Hepcidin Expression by Positive and Negative Regulators
TL;DR: A novel hepcidin suppressor, the transmembrane serine protease TMPRSS6 (also known as matriptase-2), which is required to sense iron deficiency is identified.
Elevated hepcidin serum level in response to inflammatory and iron signals in exercising athletes is independent of moderate supplementation with vitamin C and E.
Víctor Díaz,Ana B. Peinado,Laura Barba-Moreno,Sandro Altamura,Javier Butragueño,Marcela González-Gross,Birgit Alteheld,Peter Stehle,Augusto G. Zapico,Martina U. Muckenthaler,Max Gassmann,Max Gassmann +11 more
TL;DR: It is observed that hepcidin concentrations remain elevated in response to inflammatory and iron signals despite a 28‐days supplementation period with vitamins C and E.
Iron overload in adult Hfe-deficient mice independent of changes in the steady-state expression of the duodenal iron transporters DMT1 and Ireg1/ferroportin
Thomas Herrmann,Martina U. Muckenthaler,Frank van der Hoeven,Karen Brennan,Sven G. Gehrke,Nadia Hubert,Consolato Sergi,Hermann Josef Gröne,Iris Kaiser,Isabella Gosch,Martin Volkmann,Hans Dieter Riedel,Matthias W. Hentze,A. Francis Stewart,Wolfgang Stremmel +14 more
TL;DR: The lack of correlation between DMT1 and Ireg1 protein expression and the liver iron content suggests that elevated duodenal iron transporter expression is not required for high liver iron overload.
Increased hepcidin levels in high-altitude pulmonary edema.
Sandro Altamura,Peter Bärtsch,Christoph Dehnert,Marco Maggiorini,Günter Weiss,Igor Theurl,Martina U. Muckenthaler,Heimo Mairbäurl +7 more
TL;DR: It is found that HAPE is associated with inappropriate expression of hepcidin without inducing expected changes in serum iron within 2 days at HA, likely due to too short time.