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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: jans jjm. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.
Vitamin B6 is essential for serine de novo biosynthesis.
Ramos RJ, Pras-Raves ML, Gerrits J, van der Ham M, Willemsen M, Prinsen H, Burgering B, Jans JJ, Verhoeven-Duif NM. Ramos RJ, et al. J Inherit Metab Dis. 2017 Nov;40(6):883-891. doi: 10.1007/s10545-017-0061-3. Epub 2017 Aug 11. J Inherit Metab Dis. 2017. PMID: 28801717
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.
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: jans jjm. 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.
Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ. van Dijk MJ, et al. Among authors: jans jjm. Am J Hematol. 2022 Jul;97(7):E226-E229. doi: 10.1002/ajh.26554. Epub 2022 Apr 16. Am J Hematol. 2022. PMID: 35384026 Free article. Clinical Trial. No abstract available.
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT. Andressoo JO, et al. Cancer Cell. 2006 Aug;10(2):121-32. doi: 10.1016/j.ccr.2006.05.027. Cancer Cell. 2006. PMID: 16904611 Free article.
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
Andressoo JO, Jans J, de Wit J, Coin F, Hoogstraten D, van de Ven M, Toussaint W, Huijmans J, Thio HB, van Leeuwen WJ, de Boer J, Egly JM, Hoeijmakers JH, van der Horst GT, Mitchell JR. Andressoo JO, et al. PLoS Biol. 2006 Oct;4(10):e322. doi: 10.1371/journal.pbio.0040322. PLoS Biol. 2006. PMID: 17020410 Free PMC article.
83 results