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Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Among authors: strahl s. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379
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: strahl s. 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
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: strahl s. 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.
Mapping the O-Mannose Glycoproteome in Saccharomyces cerevisiae.
Neubert P, Halim A, Zauser M, Essig A, Joshi HJ, Zatorska E, Larsen IS, Loibl M, Castells-Ballester J, Aebi M, Clausen H, Strahl S. Neubert P, et al. Among authors: strahl s. Mol Cell Proteomics. 2016 Apr;15(4):1323-37. doi: 10.1074/mcp.M115.057505. Epub 2016 Jan 13. Mol Cell Proteomics. 2016. PMID: 26764011 Free PMC article.
76 results