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Veröffentlichungsdatum
Anzahl der Publikationen: 7
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
2020
Schneeberger, Pauline E.; Kortuem, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Alonso, Aroa Rodriguez; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G.; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja und Kutsche, Kerstin
(2020):
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
In: Brain, Bd. 143: S. 2437-2453
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
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]