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The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo M, Remacle N, Cudré-Cung HP, Roux C, Poms M, Cudalbu C, Barroso M, Gersting SW, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Rüfenacht V, Häberle J, Braissant O, Ballhausen D. Gonzalez Melo M, et al. Among authors: gersting sw. Mol Genet Metab. 2021 Jun;133(2):157-181. doi: 10.1016/j.ymgme.2021.03.017. Epub 2021 Apr 18. Mol Genet Metab. 2021. PMID: 33965309 Free article.
Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5-11 Years.
Lalia JK, Schild R, Lütgehetmann M, Dunay GA, Kallinich T, Kobbe R, Massoud M, Oh J, Pietzsch L, Schulze-Sturm U, Schuetz C, Sibbertsen F, Speth F, Thieme S, Witkowski M, Berner R, Muntau AC, Gersting SW, Toepfner N, Pagel J, Paul K. Lalia JK, et al. Among authors: gersting sw. Viruses. 2023 Jul 14;15(7):1553. doi: 10.3390/v15071553. Viruses. 2023. PMID: 37515239 Free PMC article.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Genet Med. 2021 Sep;23(9):1705-1714. doi: 10.1038/s41436-021-01194-x. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140661 Free article.
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Genet Med. 2021 Sep;23(9):1789. doi: 10.1038/s41436-021-01280-0. Genet Med. 2021. PMID: 34302123 Free article. No abstract available.
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW. Barroso M, et al. Among authors: gersting sw. Int J Mol Sci. 2023 Aug 24;24(17):13158. doi: 10.3390/ijms241713158. Int J Mol Sci. 2023. PMID: 37685964 Free PMC article.
Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1.
Barroso M, Puchwein-Schwepcke A, Buettner L, Goebel I, Küchler K, Muntau AC, Delgado A, Garcia-Collazo AM, Martinell M, Barril X, Cubero E, Gersting SW. Barroso M, et al. Among authors: gersting sw. J Med Chem. 2024 Oct 10;67(19):17087-17100. doi: 10.1021/acs.jmedchem.4c00292. Epub 2024 Sep 23. J Med Chem. 2024. PMID: 39312412 Free PMC article.
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Gersting SW, Lagler FB, Eichinger A, Kemter KF, Danecka MK, Messing DD, Staudigl M, Domdey KA, Zsifkovits C, Fingerhut R, Glossmann H, Roscher AA, Muntau AC. Gersting SW, et al. Hum Mol Genet. 2010 May 15;19(10):2039-49. doi: 10.1093/hmg/ddq085. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179079 Free article.
43 results