Stapelbroek JM - Search Results

1

ATP8B1 is essential for maintaining normal hearing.

Stapelbroek JM, Peters TA, van Beurden DH, Curfs JH, Joosten A, Beynon AJ, van Leeuwen BM, van der Velden LM, Bull L, Oude Elferink RP, van Zanten BA, Klomp LW, Houwen RH. Stapelbroek JM, et al. Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9709-14. doi: 10.1073/pnas.0807919106. Epub 2009 May 28. Proc Natl Acad Sci U S A. 2009. PMID: 19478059 Free PMC article.

2

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

van der Velden LM, Stapelbroek JM, Krieger E, van den Berghe PV, Berger R, Verhulst PM, Holthuis JC, Houwen RH, Klomp LW, van de Graaf SF. van der Velden LM, et al. Among authors: stapelbroek jm. Hepatology. 2010 Jan;51(1):286-96. doi: 10.1002/hep.23268. Hepatology. 2010. PMID: 19918981

3

Liver disease associated with canalicular transport defects: current and future therapies.

Stapelbroek JM, van Erpecum KJ, Klomp LW, Houwen RH. Stapelbroek JM, et al. J Hepatol. 2010 Feb;52(2):258-71. doi: 10.1016/j.jhep.2009.11.012. Epub 2009 Nov 21. J Hepatol. 2010. PMID: 20034695 Free article. Review.

4

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH. van der Woerd WL, et al. Among authors: stapelbroek jm. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955958 Review.

5

Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

van der Woerd WL, van Haaften-Visser DY, van de Graaf SF, Férec C, Masson E, Stapelbroek JM, Bugert P, Witt H, Houwen RH. van der Woerd WL, et al. Among authors: stapelbroek jm. PLoS One. 2013 Nov 19;8(11):e80553. doi: 10.1371/journal.pone.0080553. eCollection 2013. PLoS One. 2013. PMID: 24260417 Free PMC article.

6

The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.

Stapelbroek JM, Bollen CW, van Amstel JK, van Erpecum KJ, van Hattum J, van den Berg LH, Klomp LW, Houwen RH. Stapelbroek JM, et al. J Hepatol. 2004 Nov;41(5):758-63. doi: 10.1016/j.jhep.2004.07.017. J Hepatol. 2004. PMID: 15519648

7

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.

van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW. van den Berghe PV, et al. Among authors: stapelbroek jm. Hepatology. 2009 Dec;50(6):1783-95. doi: 10.1002/hep.23209. Hepatology. 2009. PMID: 19937698

8

Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis.

Stapelbroek JM, van Erpecum KJ, Klomp LW, Venneman NG, Schwartz TP, van Berge Henegouwen GP, Devlin J, van Nieuwkerk CM, Knisely AS, Houwen RH. Stapelbroek JM, et al. Hepatology. 2006 Jan;43(1):51-3. doi: 10.1002/hep.20998. Hepatology. 2006. PMID: 16374853

9

[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B].

Stapelbroek JM, Ploos van Amstel JK, van Hattum J, van den Berg LH, Klomp LW, Houwen RH. Stapelbroek JM, et al. Ned Tijdschr Geneeskd. 2003 Mar 29;147(13):603-5. Ned Tijdschr Geneeskd. 2003. PMID: 12701394 Review. Dutch.

10

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: stapelbroek jm. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12. Gastroenterology. 2014. PMID: 24726755

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