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An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking.
Schneeberger K, Vogel GF, Teunissen H, van Ommen DD, Begthel H, El Bouazzaoui L, van Vugt AH, Beekman JM, Klumperman J, Müller T, Janecke A, Gerner P, Huber LA, Hess MW, Clevers H, van Es JH, Nieuwenhuis EE, Middendorp S. Schneeberger K, et al. Among authors: klumperman j. Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):12408-13. doi: 10.1073/pnas.1516672112. Epub 2015 Sep 21. Proc Natl Acad Sci U S A. 2015. PMID: 26392529 Free PMC article.
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S. Wiegerinck CL, et al. Among authors: klumperman j. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12. Gastroenterology. 2014. PMID: 24726755
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
Kuper WFE, Oostendorp M, van den Broek BTA, van Veghel K, Nonkes LJP, Nieuwenhuis EES, Fuchs SA, Veenendaal T, Klumperman J, Huisman A, Nierkens S, van Hasselt PM. Kuper WFE, et al. Among authors: klumperman j. JIMD Rep. 2020 Jun 2;54(1):87-97. doi: 10.1002/jmd2.12128. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685355 Free PMC 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: klumperman j. 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.
Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.
Jamalpoor A, van Gelder CA, Yousef Yengej FA, Zaal EA, Berlingerio SP, Veys KR, Pou Casellas C, Voskuil K, Essa K, Ammerlaan CM, Rega LR, van der Welle RE, Lilien MR, Rookmaaker MB, Clevers H, Klumperman J, Levtchenko E, Berkers CR, Verhaar MC, Altelaar M, Masereeuw R, Janssen MJ. Jamalpoor A, et al. Among authors: klumperman j. EMBO Mol Med. 2021 Jul 7;13(7):e13067. doi: 10.15252/emmm.202013067. Epub 2021 Jun 24. EMBO Mol Med. 2021. PMID: 34165243 Free PMC article.
195 results