Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
- Patrick Forny, Ximena Bonilla, David Lamparter, …, Bernd Wollscheid, Matthias R Baumgartner, D Sean Froese
- Nat Metab, 10.1038/s42255-022-00720-8
The complex machinery of human cobalamin metabolism
- Thomas J McCorvie, Douglas Ferreira, Wyatt W Yue, …, Douglas Ferreira, Wyatt W Yue, D Sean Froese
- J Inherit Metab Dis, 10.1002/jimd.12593
HIF1 and DROSHA are involved in MMACHC repression in hypoxia
- Eva Kiessling, Florian Peters, Lynn J A Ebner, …, Matthias R Baumgartner, Christian Grimm, D Sean Froese
- Biochim Biophys Acta Gen Subj, 10.1016/j.bbagen.2022.130175
Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia
- Alessandro Luciani, Matthew C S Denley, Larissa P Govers, Vincenzo Sorrentino, D Sean Froese
- Cell Mol Life Sci, 10.1007/s00018-021-03934-3
Shifting landscapes of human MTHFR missense-variant effects
- Jochen Weile, Nishka Kishore, Song Sun, …, Michael Garton, D Sean Froese, Frederick P Roth
- Am J Hum Genet, 10.1016/j.ajhg.2021.05.009
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
- Eva Kiessling, Sarah Nötzli, Vyara Todorova, …, Viktor Kožich, Christian Grimm, D Sean Froese
- Biochim Biophys Acta Mol Basis Dis, 10.1016/j.bbadis.2021.166201
Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders
- Georgios Makris, Matthias Lauber, Véronique Rüfenacht, …, Ljubica Caldovic, D Sean Froese, Johannes Häberle
- Biochimie, 10.1016/j.biochi.2020.12.003
Naturally occurring cobalamin (B 12 ) analogs can function as cofactors for human methylmalonyl-CoA mutase
- Olga M Sokolovskaya, Tanja Plessl, Henry Bailey, …, Wyatt W Yue, D Sean Froese, Michiko E Taga
- Biochimie, 10.1016/j.biochi.2020.06.014