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Metabolic Alterations in NADSYN1-Deficient Cells.
Meijer NWF, Gerrits J, Zwakenberg S, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Meijer NWF, et al. Among authors: zwartkruis fjt. Metabolites. 2023 Dec 12;13(12):1196. doi: 10.3390/metabo13121196. Metabolites. 2023. PMID: 38132878 Free PMC article.
The malate-aspartate shuttle is important for de novo serine biosynthesis.
Broeks MH, Meijer NWF, Westland D, Bosma M, Gerrits J, German HM, Ciapaite J, van Karnebeek CDM, Wanders RJA, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Broeks MH, et al. Among authors: zwartkruis fjt. Cell Rep. 2023 Sep 26;42(9):113043. doi: 10.1016/j.celrep.2023.113043. Epub 2023 Aug 30. Cell Rep. 2023. PMID: 37647199 Free article.
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
Ciapaite J, van Roermund CWT, Bosma M, Gerrits J, Houten SM, IJlst L, Waterham HR, van Karnebeek CDM, Wanders RJA, Zwartkruis FJT, Jans JJ, Verhoeven-Duif NM. Ciapaite J, et al. Among authors: zwartkruis fjt. J Biol Chem. 2023 Sep;299(9):105047. doi: 10.1016/j.jbc.2023.105047. Epub 2023 Jul 13. J Biol Chem. 2023. PMID: 37451483 Free PMC article.
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines.
Glykofridis IE, Henneman AA, Balk JA, Goeij-de Haas R, Westland D, Piersma SR, Knol JC, Pham TV, Boekhout M, Zwartkruis FJT, Wolthuis RMF, Jimenez CR. Glykofridis IE, et al. Among authors: zwartkruis fjt. Mol Cell Proteomics. 2022 Sep;21(9):100263. doi: 10.1016/j.mcpro.2022.100263. Epub 2022 Jul 19. Mol Cell Proteomics. 2022. PMID: 35863698 Free PMC article.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: zwartkruis fjt. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Ciapaite J, Albersen M, Savelberg SMC, Bosma M, Tessadori F, Gerrits J, Lansu N, Zwakenberg S, Bakkers JPW, Zwartkruis FJT, van Haaften G, Jans JJ, Verhoeven-Duif NM. Ciapaite J, et al. Among authors: zwartkruis fjt. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165607. doi: 10.1016/j.bbadis.2019.165607. Epub 2019 Nov 21. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31759955 Free article.
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R. Rumping L, et al. Among authors: zwartkruis fjt. JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941. JAMA Neurol. 2019. PMID: 30575854 Free PMC article.
35 results