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Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Nat Metab. 2023 Jan;5(1):80-95. doi: 10.1038/s42255-022-00720-8. Epub 2023 Jan 26.
Nat Metab. 2023.
PMID: 36717752
Free PMC article.
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR.
Forny P, et al. Among authors: plessl t.
Hum Genet. 2022 Jul;141(7):1253-1267. doi: 10.1007/s00439-021-02398-6. Epub 2021 Nov 18.
Hum Genet. 2022.
PMID: 34796408
Free PMC article.
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Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F, Tuncel AT, Gleich F, Plessl T, Froese SD, Garbade SF, Kölker S, Baumgartner MR; Additional Contributors from E-IMD.
Hörster F, et al. Among authors: plessl t.
J Inherit Metab Dis. 2021 Jan;44(1):193-214. doi: 10.1002/jimd.12297. Epub 2020 Sep 15.
J Inherit Metab Dis. 2021.
PMID: 32754920
Free article.
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Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase.
Sokolovskaya OM, Plessl T, Bailey H, Mackinnon S, Baumgartner MR, Yue WW, Froese DS, Taga ME.
Sokolovskaya OM, et al. Among authors: plessl t.
Biochimie. 2021 Apr;183:35-43. doi: 10.1016/j.biochi.2020.06.014. Epub 2020 Jul 10.
Biochimie. 2021.
PMID: 32659443
Free PMC article.
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Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Plessl T, Bürer C, Lutz S, Yue WW, Baumgartner MR, Froese DS.
Plessl T, et al.
Hum Mutat. 2017 Aug;38(8):988-1001. doi: 10.1002/humu.23251. Epub 2017 Jun 6.
Hum Mutat. 2017.
PMID: 28497574
Free article.
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Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW.
Froese DS, et al. Among authors: plessl t.
J Biol Chem. 2015 Dec 4;290(49):29167-77. doi: 10.1074/jbc.M115.683268. Epub 2015 Oct 19.
J Biol Chem. 2015.
PMID: 26483544
Free PMC article.
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The stem cell signature of CHH/CHG methylation is not present in 271 cancer associated 5'UTR gene regions.
Pulverer W, Wielscher M, Panzer-Grümayer R, Plessl T, Kriegner A, Vierlinger K, Weinhäusel A.
Pulverer W, et al. Among authors: plessl t.
Biochimie. 2012 Nov;94(11):2345-52. doi: 10.1016/j.biochi.2012.06.023. Epub 2012 Jun 29.
Biochimie. 2012.
PMID: 22750649
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