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Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF. Thiesler CT, et al. Among authors: thiel c. Mol Cell Proteomics. 2016 Apr;15(4):1435-52. doi: 10.1074/mcp.M115.054122. Epub 2016 Jan 19. Mol Cell Proteomics. 2016. PMID: 26785728 Free PMC article.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: thiel c. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. Radenkovic S, et al. Among authors: thiel c. Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982613 Free PMC article.
ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing.
Imle R, Wang BT, Stützenberger N, Birkenhagen J, Tandon A, Carl M, Himmelreich N, Thiel C, Gröne HJ, Poschet G, Völkers M, Gülow K, Schröder A, Carillo S, Mittermayr S, Bones J, Kamiński MM, Kölker S, Sauer SW. Imle R, et al. Among authors: thiel c. Sci Rep. 2019 Oct 3;9(1):14248. doi: 10.1038/s41598-019-50566-6. Sci Rep. 2019. PMID: 31582762 Free PMC article.
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Görlacher M, Panagiotou E, Himmelreich N, Hüllen A, Beedgen L, Dimitrov B, Geiger V, Zielonka M, Peters V, Strahl S, Vázquez-Jiménez J, Kerst G, Thiel C. Görlacher M, et al. Among authors: thiel c. Mol Genet Metab Rep. 2020 Nov 7;25:100673. doi: 10.1016/j.ymgmr.2020.100673. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33209585 Free PMC article.
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Gücüm S, Sakson R, Hoffmann M, Grote V, Becker C, Pakari K, Beedgen L, Thiel C, Rapp E, Ruppert T, Thumberger T, Wittbrodt J. Gücüm S, et al. Among authors: thiel c. Development. 2021 Jun 1;148(11):dev199385. doi: 10.1242/dev.199385. Epub 2021 Jun 9. Development. 2021. PMID: 34106226 Free PMC article.
685 results