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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
van der Welle REN, Jobling R, Burns C, Sanza P, van der Beek JA, Fasano A, Chen L, Zwartkruis FJ, Zwakenberg S, Griffin EF, Ten Brink C, Veenendaal T, Liv N, van Ravenswaaij-Arts CMA, Lemmink HH, Pfundt R, Blaser S, Sepulveda C, Lozano AM, Yoon G, Santiago-Sim T, Asensio CS, Caldwell GA, Caldwell KA, Chitayat D, Klumperman J. van der Welle REN, et al. Among authors: zwartkruis fj. EMBO Mol Med. 2021 May 7;13(5):e13258. doi: 10.15252/emmm.202013258. Epub 2021 Apr 14. EMBO Mol Med. 2021. PMID: 33851776 Free PMC article.
Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism.
Ramos RJ, Albersen M, Vringer E, Bosma M, Zwakenberg S, Zwartkruis F, Jans JJM, Verhoeven-Duif NM. Ramos RJ, et al. Biochim Biophys Acta Gen Subj. 2019 Jun;1863(6):1088-1097. doi: 10.1016/j.bbagen.2019.03.019. Epub 2019 Mar 27. Biochim Biophys Acta Gen Subj. 2019. PMID: 30928491 Free article.
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.
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. 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.
84 results