Steatohepatitis/Metabolic Liver Disease
Reduced expression of ATP7B affected by Wilson disease–causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin†
Version of Record online: 5 AUG 2009
Copyright © 2009 American Association for the Study of Liver Diseases
Volume 50, Issue 6, pages 1783–1795, December 2009
How to Cite
van den Berghe, P. V. E., Stapelbroek, J. M., Krieger, E., de Bie, P., van de Graaf, S. F. J., de Groot, R. E. A., van Beurden, E., Spijker, E., Houwen, R. H. J., Berger, R. and Klomp, L. W. J. (2009), Reduced expression of ATP7B affected by Wilson disease–causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. Hepatology, 50: 1783–1795. doi: 10.1002/hep.23209
Potential conflict of interest: Nothing to report.
- Issue online: 20 NOV 2009
- Version of Record online: 5 AUG 2009
- Accepted manuscript online: 5 AUG 2009 12:00AM EST
- Manuscript Accepted: 23 JUL 2009
- Manuscript Received: 13 JAN 2009
- Dutch Digestive Disease foundation. Grant Number: WS 02-34
- NWO Program. Grant Number: 912.04.106
- NWO ALW. Grant Number: 817.02.022
- NWO VENI. Grant Number: 016.096.108
- Stichting BRIC, de leverziekte
- 1Wilson's disease. Lancet 2007; 369: 397–408., , , , .
- 2http://www.wilsondisease.med.ualberta.ca/database.asp. Accessed August 6, 2009., . Wilson disease database.
- 3Wilson's disease: new oral therapy. Lancet 1956; 270: 25–26..
- 4Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients. Arch Neurol 1994; 51: 545–554., , , , , , et al.
- 5Initial therapy of patients with Wilson's disease with tetrathiomolybdate. Arch Neurol 1991; 48: 42–47., , , , , .
- 6Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease. Br J Dermatol 2000; 142: 560–561., , .
- 7Wilson disease: a practical approach to diagnosis, treatment and follow-up. Dig Liver Dis 2007; 39: 601–609., , .
- 8Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987; 44: 490–493., , , .
- 9Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 2006; 63: 521–527., , , , , , et al.
- 10Paradigm shift in treatment of Wilson's disease: zinc therapy now treatment of choice. Brain Dev 2006; 28: 141–146..
- 11Treatment of Wilson's disease with zinc. IX: Response of serum lipids. J Lab Clin Med 1991; 118: 466–470., , .
- 12Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol 2006; 40: 936–941., , , , , , et al.
- 13Diagnosis and treatment of Wilson disease: an update. HEPATOLOGY 2008; 47: 2089–2111., .
- 14Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci U S A 1996; 93: 14030–14035., , , .
- 15Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells. Cell Physiol Biochem 2007; 20: 1073–1084., , , , , .
- 16Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet 1997; 6: 1043–1049., , .
- 17ATP7B expression in human breast epithelial cells is mediated by lactational hormones. J Histochem Cytochem 2008; 56: 389–399., , , , , , et al.
- 18Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 2008; 134: 769–781., , , , , , et al.
- 19Modulation of deltaF508 cystic fibrosis transmembrane regulator trafficking and function with 4-phenylbutyrate and flavonoids. Am J Respir Cell Mol Biol 2004; 31: 351–357., , , , .
- 20Chemical rescue of deltaF508-CFTR mimics genetic repair in cystic fibrosis bronchial epithelial cells. Mol Cell Proteomics 2008; 7: 1099–1110., , .
- 21Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking. Traffic 2008; 9: 1878–1893., , , , .
- 22Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 2007; 133: 1316–1326., , , , , , et al.
- 23Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake. Biochem J 2007; 407: 49–59., , , , , , et al.
- 24Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002; 3: RESEARCH0034., , , , , , et al.
- 25Cell-specific trafficking suggests a new role for renal ATP7B in the intracellular copper storage. Traffic 2009; 10: 767–779., , , , , , et al.
- 26Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc Natl Acad Sci U S A 1999; 96: 13363–13368., , , .
- 27Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet 2007; 44: 673–688., , , .
- 28The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 2003; 278: 41593–41596., , , , .
- 29Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 2002; 11: 165–173., , , , .
- 30COMMD proteins: COMMing to the scene. Cell Mol Life Sci 2007; 64: 1997–2005., .
- 31Induction of HSP70 promotes DeltaF508 CFTR trafficking. Am J Physiol Lung Cell Mol Physiol 2001; 281: 58–68., .
- 32Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 2004; 304: 600–602., , , , , , et al.
- 33The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. J Biol Chem 2004; 279: 36363–36371., , , , .
- 34Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation. J Mol Biol 2008; 383: 1097–1111., , .
- 35Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. Mol Cell Biochem 2007; 294: 1–10., , , .
- 364-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. HEPATOLOGY 2007; 45: 1506–1516., .
- 37A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med 1998; 157: 484–490., .
- 38Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr Res 1991; 29: 147–150..
- 39Prospective treatment of urea cycle disorders. J Pediatr 1991; 119: 923–928., , , .
- 40Curcumin labels amyloid pathology in vivo, disrupts existing plaques, and partially restores distorted neurites in an Alzheimer mouse model. J Neurochem 2007; 102: 1095–1104., , , , .
- 41Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator. J Cell Biol 2005; 169: 93–104., , , , , , et al.
- 42Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study. J Pediatr Gastroenterol Nutr 2004; 39: 34–37..