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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: van esbroeck acm. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Discovery of a NAPE-PLD inhibitor that modulates emotional behavior in mice.
Mock ED, Mustafa M, Gunduz-Cinar O, Cinar R, Petrie GN, Kantae V, Di X, Ogasawara D, Varga ZV, Paloczi J, Miliano C, Donvito G, van Esbroeck ACM, van der Gracht AMF, Kotsogianni I, Park JK, Martella A, van der Wel T, Soethoudt M, Jiang M, Wendel TJ, Janssen APA, Bakker AT, Donovan CM, Castillo LI, Florea BI, Wat J, van den Hurk H, Wittwer M, Grether U, Holmes A, van Boeckel CAA, Hankemeier T, Cravatt BF, Buczynski MW, Hill MN, Pacher P, Lichtman AH, van der Stelt M. Mock ED, et al. Among authors: van esbroeck acm. Nat Chem Biol. 2020 Jun;16(6):667-675. doi: 10.1038/s41589-020-0528-7. Epub 2020 May 11. Nat Chem Biol. 2020. PMID: 32393901 Free PMC article.
Activity-based protein profiling of the human failing ischemic heart reveals alterations in hydrolase activities involving the endocannabinoid system.
van Esbroeck ACM, Varga ZV, Di X, van Rooden EJ, Tóth VE, Onódi Z, Kuśmierczyk M, Leszek P, Ferdinandy P, Hankemeier T, van der Stelt M, Pacher P. van Esbroeck ACM, et al. Pharmacol Res. 2020 Jan;151:104578. doi: 10.1016/j.phrs.2019.104578. Epub 2019 Nov 30. Pharmacol Res. 2020. PMID: 31794870 Free PMC article.
Chemical Proteomic Analysis of Serine Hydrolase Activity in Niemann-Pick Type C Mouse Brain.
van Rooden EJ, van Esbroeck ACM, Baggelaar MP, Deng H, Florea BI, Marques ARA, Ottenhoff R, Boot RG, Overkleeft HS, Aerts JMFG, van der Stelt M. van Rooden EJ, et al. Among authors: van esbroeck acm. Front Neurosci. 2018 Jul 3;12:440. doi: 10.3389/fnins.2018.00440. eCollection 2018. Front Neurosci. 2018. PMID: 30018533 Free PMC article.
Two-step activity-based protein profiling of diacylglycerol lipase.
van Rooden EJ, Kreekel R, Hansen T, Janssen APA, van Esbroeck ACM, den Dulk H, van den Berg RJBHN, Codée JDC, van der Stelt M. van Rooden EJ, et al. Among authors: van esbroeck acm. Org Biomol Chem. 2018 Jul 25;16(29):5250-5253. doi: 10.1039/c8ob01499j. Org Biomol Chem. 2018. PMID: 30004552
Activity-based protein profiling reveals off-target proteins of the FAAH inhibitor BIA 10-2474.
van Esbroeck ACM, Janssen APA, Cognetta AB 3rd, Ogasawara D, Shpak G, van der Kroeg M, Kantae V, Baggelaar MP, de Vrij FMS, Deng H, Allarà M, Fezza F, Lin Z, van der Wel T, Soethoudt M, Mock ED, den Dulk H, Baak IL, Florea BI, Hendriks G, De Petrocellis L, Overkleeft HS, Hankemeier T, De Zeeuw CI, Di Marzo V, Maccarrone M, Cravatt BF, Kushner SA, van der Stelt M. van Esbroeck ACM, et al. Science. 2017 Jun 9;356(6342):1084-1087. doi: 10.1126/science.aaf7497. Science. 2017. PMID: 28596366 Free PMC article.
12 results