Functional studies drive treatment of phenylketonuria to become personalized
Gundorova P, Danecka M, Woidy M, Kasten V, Muntau A, Gersting S
EUR J HUM GENET. 2024;32(Suppl 1):698.

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin
Overduin R, Grünert S, Besouw M, Bolhuis M, Groen J, Schreuder A, Woidy M, Murko S, Santer R, Derks T
J INHERIT METAB DIS. 2024;47(5):1018-1027.

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer S, Haas F, Wong M, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting S, Muntau A, Kretz O, Hahn O, Rinschen M, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti H, Najafian B, Puelles V, Schell C, Huber T
J CLIN INVEST. 2023;133(11):.

Long-Term Antibody Response to SARS-CoV-2 in Children
Dunay G, Barroso M, Woidy M, Danecka M, Engels G, Hermann K, Neumann F, Paul K, Beime J, Escherich G, Fehse K, Grinstein L, Haniel F, Haupt L, Hecher L, Kehl T, Kemen C, Kemper M, Kobbe R, Kohl A, Klokow T, Nörz D, Olfe J, Schlenker F, Schmiesing J, Schrum J, Sibbertsen F, Stock P, Tiede S, Vettorazzi E, Zazara D, Zapf A, Lütgehetmann M, Oh J, Mir T, Muntau A, Gersting S
J CLIN IMMUNOL. 2023;43(1):46-56.

Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
Derks T, Lubout C, Woidy M, Santer R
2022. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau N, Vici C, Ferreira C, Vianey-Saban C, van Karnebeek C (eds.). 2. ed. Springer Nature Switzerland, 649-700.

A personalized medicine approach for phenylketonuria patients
Gundorova P, Danecka M, Woidy M, Gersting S
J INHERIT METAB DIS. 2022;45(S1):473.

Specific CD4+ T Cell Responses to Ancestral SARS-CoV-2 in Children Increase With Age and Show Cross-Reactivity to Beta Variant
Paul K, Sibbertsen F, Weiskopf D, Lütgehetmann M, Barroso M, Danecka M, Glau L, Hecher L, Hermann K, Kohl A, Oh J, Wiesch J, Sette A, Tolosa E, Vettorazzi E, Woidy M, Zapf A, Zazara D, Mir T, Muntau A, Gersting S, Dunay G
FRONT IMMUNOL. 2022;13:867577.

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations
Lotz-Havla A, Woidy M, Guder P, Friedel C, Klingbeil J, Bulau A, Schultze A, Dahmen I, Noll-Puchta H, Kemp S, Erdmann R, Zimmer R, Muntau A, Gersting S
J PROTEOME RES. 2021;20(9):4366-4380.

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency
Lotz-Havla A, Woidy M, Guder P, Schmiesing J, Erdmann R, Waterham H, Muntau A, Gersting S
FRONT GENET. 2021;12:.

Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
Schob C, Hempel M, Brozkova D, Jiang H, Kim S, Batzir N, Orenstein N, Bierhals T, Johannsen J, Meszarosova A, Chae J, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J
ANN NEUROL. 2021;90(5):738-750.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger P, Kortüm F, Korenke G, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb B, Coci E, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier E, Javaher-Haghighi P, Bedeschi M, Ajmone P, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen M, Beysen D, Kooy R, Houlden H, Murphy D, Doosti M, Karimiani E, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, , Gelb B, Kurth I, Hempel M, Kutsche K
BRAIN. 2020;143(8):2437-2453.

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
Guder P, Lotz-Havla A, Woidy M, Reiß D, Danecka M, Schatz U, Becker M, Ensenauer R, Pagel P, Büttner L, Muntau A, Gersting S
BBA-MOL CELL RES. 2019;1866(3):518-531.

Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
Eichinger A, Danecka M, Möglich T, Borsch J, Woidy M, Büttner L, Muntau A, Gersting S
HUM MOL GENET. 2018;27(10):1732-1742.

Inborn errors of metabolism and the human interactome: a systems medicine approach
Woidy M, Muntau A, Gersting S
J INHERIT METAB DIS. 2018;41(3):285-296.

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
Danecka M, Woidy M, Zschocke J, Feillet F, Muntau A, Gersting S
J MED GENET. 2015;52(3):175-185.

Letzte Aktualisierung aus dem FIS: 23.12.2024 - 03:56 Uhr