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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: luchtenborg c. 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: luchtenborg 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
Sphingosine-1-Phosphate Lyase Deficient Cells as a Tool to Study Protein Lipid Interactions.
Gerl MJ, Bittl V, Kirchner S, Sachsenheimer T, Brunner HL, Lüchtenborg C, Özbalci C, Wiedemann H, Wegehingel S, Nickel W, Haberkant P, Schultz C, Krüger M, Brügger B. Gerl MJ, et al. Among authors: luchtenborg c. PLoS One. 2016 Apr 21;11(4):e0153009. doi: 10.1371/journal.pone.0153009. eCollection 2016. PLoS One. 2016. PMID: 27100999 Free PMC article.
The UbiB family member Cqd1 forms a novel membrane contact site in mitochondria.
Khosravi S, Chelius X, Unger AK, Rieger D, Frickel J, Sachsenheimer T, Lüchtenborg C, Schieweck R, Brügger B, Westermann B, Klecker T, Neupert W, Harner ME. Khosravi S, et al. Among authors: luchtenborg c. J Cell Sci. 2023 May 15;136(10):jcs260578. doi: 10.1242/jcs.260578. Epub 2023 May 18. J Cell Sci. 2023. PMID: 37073556 Free PMC article.
30 results