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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Among authors: fuchs sa. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Prime editing for functional repair in patient-derived disease models.
Schene IF, Joore IP, Oka R, Mokry M, van Vugt AHM, van Boxtel R, van der Doef HPJ, van der Laan LJW, Verstegen MMA, van Hasselt PM, Nieuwenhuis EES, Fuchs SA. Schene IF, et al. Among authors: fuchs sa. Nat Commun. 2020 Oct 23;11(1):5352. doi: 10.1038/s41467-020-19136-7. Nat Commun. 2020. PMID: 33097693 Free PMC article.
Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease.
Verstegen MMA, Roos FJM, Burka K, Gehart H, Jager M, de Wolf M, Bijvelds MJC, de Jonge HR, Ardisasmita AI, van Huizen NA, Roest HP, de Jonge J, Koch M, Pampaloni F, Fuchs SA, Schene IF, Luider TM, van der Doef HPJ, Bodewes FAJA, de Kleine RHJ, Spee B, Kremers GJ, Clevers H, IJzermans JNM, Cuppen E, van der Laan LJW. Verstegen MMA, et al. Sci Rep. 2020 Dec 14;10(1):21900. doi: 10.1038/s41598-020-79082-8. Sci Rep. 2020. PMID: 33318612 Free PMC article.
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.
Molema F, Haijes HA, Janssen MC, Bosch AM, van Spronsen FJ, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Fuchs S, Langendonk JG, Rizopoulos D, van Hasselt PM, Williams M. Molema F, et al. Among authors: fuchs s. Clin Nutr. 2021 May;40(5):3622-3630. doi: 10.1016/j.clnu.2020.12.027. Epub 2020 Dec 25. Clin Nutr. 2021. PMID: 33451859 Free article.
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.
Lehmann V, Schene IF, Ardisasmita AI, Liv N, Veenendaal T, Klumperman J, van der Doef HPJ, Verkade HJ, Verstegen MMA, van der Laan LJW, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Nieuwenhuis EES, Spee B, Fuchs SA. Lehmann V, et al. Among authors: fuchs sa. J Inherit Metab Dis. 2022 Mar;45(2):353-365. doi: 10.1002/jimd.12450. Epub 2021 Nov 3. J Inherit Metab Dis. 2022. PMID: 34671987 Free PMC article.
Mutation-specific reporter for optimization and enrichment of prime editing.
Schene IF, Joore IP, Baijens JHL, Stevelink R, Kok G, Shehata S, Ilcken EF, Nieuwenhuis ECM, Bolhuis DP, van Rees RCM, Spelier SA, van der Doef HPJ, Beekman JM, Houwen RHJ, Nieuwenhuis EES, Fuchs SA. Schene IF, et al. Among authors: fuchs sa. Nat Commun. 2022 Mar 1;13(1):1028. doi: 10.1038/s41467-022-28656-3. Nat Commun. 2022. PMID: 35232966 Free PMC article.
1,951 results