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Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease. Schindehütte M, Weiner S, Klug K, Hölzli L, Nauroth-Kreß C, Hessenauer F, Kampf T, Homola GA, Nordbeck P, Wanner C, Sommer C, Üçeyler N, Pham M. Brain Commun. 2024 May 1;6(3):fcae155. doi: 10.1093/braincomms/fcae155. eCollection 2024.
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Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease. Klein A, Klug K, Breyer M, Grüner J, Medala VK, Nordbeck P, Wanner C, Klopocki E, Üçeyler N. J Inherit Metab Dis. 2024 Jul;47(4):805-817. doi: 10.1002/jimd.12743. Epub 2024 Apr 15.
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Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data. Klein T, Grüner J, Breyer M, Schlegel J, Schottmann NM, Hofmann L, Gauss K, Mease R, Erbacher C, Finke L, Klein A, Klug K, Karl-Schöller F, Vignolo B, Reinhard S, Schneider T, Günther K, Fink J, Dudek J, Maack C, Klopocki E, Seibel J, Edenhofer F, Wischmeyer E, Sauer M, Üçeyler N. Brain Commun. 2024 Apr 3;6(2):fcae095. doi: 10.1093/braincomms/fcae095. eCollection 2024.
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Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease. Hofmann L, Grüner J, Klug K, Breyer M, Klein T, Hochheimer V, Wagenhäuser L, Wischmeyer E, Üçeyler N. PLoS One. 2024 Apr 9;19(4):e0300687. doi: 10.1371/journal.pone.0300687. eCollection 2024.
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In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease. Breyer M, Grüner J, Klein A, Finke L, Klug K, Sauer M, Üçeyler N. Mol Genet Metab Rep. 2023 Nov 25;38:101029. doi: 10.1016/j.ymgmr.2023.101029. eCollection 2024 Mar.
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Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach. Klug K, Spitzel M, Hans C, Klein A, Schottmann NM, Erbacher C, Üçeyler N. Int J Mol Sci. 2023 Oct 21;24(20):15422. doi: 10.3390/ijms242015422.
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Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c.1678C>G variant in the transient receptor potential cation channel subfamily A member (TRPA1) gene potentially associated with small fiber neuropathy. Schottmann NM, Klug K, Klopocki E, Üçeyler N. Stem Cell Res. 2023 Jun;69:103094. doi: 10.1016/j.scr.2023.103094. Epub 2023 Apr 12.
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Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease. Klug K, Breyer M, Klopocki E, Üçeyler N. Stem Cell Res. 2023 Mar;67:103025. doi: 10.1016/j.scr.2023.103025. Epub 2023 Jan 9.
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Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease. Breyer M, Klein T, Klug K, Klopocki E, Üçeyler N. Stem Cell Res. 2022 May;61:102747. doi: 10.1016/j.scr.2022.102747. Epub 2022 Mar 14.
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Differential impact of keratinocytes and fibroblasts on nociceptor degeneration and sensitization in small fiber neuropathy. Kreß L, Hofmann L, Klein T, Klug K, Saffer N, Spitzel M, Bär F, Sommer C, Karl F, Üçeyler N. Pain. 2020 Nov 12;Publish Ahead of Print. doi: 10.1097/j.pain.0000000000002122. Online ahead of print.
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Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy. Klein T, Klug K, Henkel L, Kwok CK, Edenhofer F, Klopocki E, Kurth I, Üçeyler N. Stem Cell Res. 2019 Mar;35:101396. doi: 10.1016/j.scr.2019.101396. Epub 2019 Feb 2.
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Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5. Klein T, Henkel L, Klug K, Kwok CK, Klopocki E, Üçeyler N. Stem Cell Res. 2018 Dec;33:171-174. doi: 10.1016/j.scr.2018.10.017. Epub 2018 Oct 12.
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| | Last update Publications 18.05.2024 |
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