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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 15
2021
Lotz-Havla, Amelie S.; Woidy, Mathias; Guder, Philipp; Schmiesing, Jessica; Erdmann, Ralf; Waterham, Hans R.; Muntau, Ania C. und Gersting, Soren W.
(4. November 2021):
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.
In: Frontiers in Genetics, Bd. 12, 726174
[PDF, 2MB]
Lotz-Havla, Amelie S.; Woidy, Mathias; Guder, Philipp; Friedel, Caroline C.; Klingbeil, Julian M.; Bulau, Ana-Maria; Schultze, Anja; Dahmen, Ilona; Noll-Puchta, Heidi; Kemp, Stephan; Erdmann, Ralf; Zimmer, Ralf; Muntau, Ania C. und Gersting, Soren W.
(2021):
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.
In: Journal of Proteome Research, Bd. 20, Nr. 9: S. 4366-4380
Muntau, Ania C.; Burlina, Alberto; Eyskens, Francois; Freisinger, Peter; Leuzzi, Vincenzo; Sivri, Hatice Serap; Gramer, Gwendolyn; Pazdirkova, Renata; Cleary, Maureen; Lotz-Havla, Amelia S.; Lane, Paul; Alvarez, Ignacio und Rutsch, Frank
(2021):
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 341
2019
Guder, Philipp; Lotz-Havla, Amelie S.; Woidy, Mathias; Reiss, Dunja D.; Danecka, Marta K.; Schatz, Ulrich A.; Becker, Marc; Ensenauer, Regina; Pagel, Philipp; Buettner, Lars; Muntau, Ania C. und Gersting, Soren W.
(2019):
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.
In: Biochimica et Biophysica Acta-Molecular Cell Research, Bd. 1866, Nr. 3: S. 518-531
2018
Woidy, Mathias; Muntau, Ania C. und Gersting, Soren W.
(2018):
Inborn errors of metabolism and the human interactome: a systems medicine approach.
In: Journal of Inherited Metabolic Disease, Bd. 41, Nr. 3: S. 285-296
Eichinger, Anna; Danecka, Marta K.; Moeglich, Tamara; Borsch, Julia; Woidy, Mathias; Büttner, Lars; Muntau, Ania C. und Gersting, Soren W.
(2018):
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
In: Human Molecular Genetics, Bd. 27, Nr. 10: S. 1732-1742
2017
Muntau, Ania C.; Burlina, Alberto; Eyskens, Francois; Freisinger, Peter; Laet, Corinne de; Leuzzi, Vincenzo; Rutsch, Frank; Sivri, H. Serap; Vijay, Suresh; Bal, Milva Orquidea; Gramer, Gwendolyn; Pazdirkova, Renata; Cleary, Maureen; Lotz-Havla, Amelie S.; Munafo, Alain; Mould, Diane R.; Moreau-Stucker, Flavie und Rogoff, Daniela
(2017):
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients < 4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
In: Orphanet Journal of Rare Diseases
12:47
[PDF, 1MB]
Schmiesing, Jessica; Lohmöller, Benjamin; Schweizer, Michaela; Tidow, Henning; Gersting, Soren W.; Muntau, Ania C.; Braulke, Thomas und Muehlhausen, Chris
(2017):
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
In: Human Molecular Genetics, Bd. 26, Nr. 3: S. 538-551
2016
Santer, René; Moulin, Marcel du; Shahinyan, Tatevik; Vater, Inga; Maier, Esther; Muntau, Ania C. und Steinmann, Beat
(2016):
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.
In: Orphanet Journal of Rare Diseases
11:44
[PDF, 1MB]
Frixel, Sabrina; Lotz-Havla, Amelie S.; Kern, Sunčana; Kaltenborn, Eva; Wittmann, Thomas; Gersting, Søren W.; Muntau, Ania C.; Zarbock, Ralf und Griese, Matthias
(2016):
Homooligomerization of ABCA3 and its functional significance.
In: International Journal of Molecular Medicine, Bd. 38, Nr. 2: S. 558-566
2015
Danecka, Marta K.; Woidy, Mathias; Zschocke, Johannes; Feillet, Francois; Muntau, Ania C. und Gersting, Søren W.
(2015):
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
In: Journal of Medical Genetics, Bd. 52, Nr. 3: S. 175-185
[PDF, 5MB]
2014
Jank, Johanna M.; Maier, Esther M.; Reiss, Dunja D.; Haslbeck, Martin; Kemter, Kristina F.; Truger, Marietta S.; Sommerhoff, Christian P.; Ferdinandusse, Sacha; Wanders, Ronald J.; Gersting, Soren W. und Muntau, Ania C.
(2014):
The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.
In: PLOS ONE 9(4), e93852 [PDF, 1MB]
In: PLOS ONE 9(4), e93852 [PDF, 1MB]
2013
Maier, Esther M.; Hege, Inga; Muntau, Ania C.; Huber, Johanna und Fischer, Martin R.
(2013):
What are effects of a spaced activation of virtual patients in a pediatric course?
In: BMC Medical Education
13:45
[PDF, 538kB]
2007
Beblo, Skadi; Reinhardt, Hannes; Demmelmair, Hans; Muntau, Ania C. und Koletzko, Berthold
(2007):
Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria.
In: Journal of pediatrics, Bd. 150, Nr. 5: S. 479-484
2001
Beblo, Skadi; Reinhardt, Hannes; Muntau, Ania C.; Müller-Felber, Wolfgang; Roscher, Adelbert A. und Koletzko, Berthold
(2001):
Fish oil supplementation improves visual evoked potentials in children with phenylketonuria.
In: Neurology, Bd. 57, Nr. 8: S. 1488-1491