Houwen RH - Search Results

1

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: houwen rh. Hepatology. 2010 Jan;51(1):286-96. doi: 10.1002/hep.23268. Hepatology. 2010. PMID: 19918981

2

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Klomp LW, et al. Among authors: houwen rh. Hepatology. 2004 Jul;40(1):27-38. doi: 10.1002/hep.20285. Hepatology. 2004. PMID: 15239083

3

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. Among authors: houwen rh. J Hepatol. 2004 Nov;41(5):758-63. doi: 10.1016/j.jhep.2004.07.017. J Hepatol. 2004. PMID: 15519648

4

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. Among authors: houwen rh. Hepatology. 2006 Jan;43(1):51-3. doi: 10.1002/hep.20998. Hepatology. 2006. PMID: 16374853

5

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: houwen rh. Hepatology. 2009 Dec;50(6):1783-95. doi: 10.1002/hep.23209. Hepatology. 2009. PMID: 19937698

6

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

Stapelbroek JM, van Erpecum KJ, Klomp LW, Houwen RH. Stapelbroek JM, et al. Among authors: houwen rh. 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.

7

A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells.

Verhulst PM, van der Velden LM, Oorschot V, van Faassen EE, Klumperman J, Houwen RH, Pomorski TG, Holthuis JC, Klomp LW. Verhulst PM, et al. Among authors: houwen rh. Hepatology. 2010 Jun;51(6):2049-60. doi: 10.1002/hep.23586. Hepatology. 2010. PMID: 20512993

8

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

van der Woerd WL, Mulder J, Pagani F, Beuers U, Houwen RH, van de Graaf SF. van der Woerd WL, et al. Among authors: houwen rh. Hepatology. 2015 Apr;61(4):1382-91. doi: 10.1002/hep.27620. Epub 2015 Feb 23. Hepatology. 2015. PMID: 25421123

9

Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.

van der Woerd WL, Wichers CG, Vestergaard AL, Andersen JP, Paulusma CC, Houwen RH, van de Graaf SF. van der Woerd WL, et al. Among authors: houwen rh. J Hepatol. 2016 Jun;64(6):1339-47. doi: 10.1016/j.jhep.2016.02.001. Epub 2016 Feb 12. J Hepatol. 2016. PMID: 26879107

10

A missense mutation in FIC1 is associated with greenland familial cholestasis.

Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH. Klomp LW, et al. Among authors: houwen rh. Hepatology. 2000 Dec;32(6):1337-41. doi: 10.1053/jhep.2000.20520. Hepatology. 2000. PMID: 11093741

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