These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Hsi G, Cullen LM, Macintyre G, Chen MM, Glerum DM, Cox DW. Hum Mutat; 2008 Apr; 29(4):491-501. PubMed ID: 18203200 [Abstract] [Full Text] [Related]
3. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? Forbes JR, Cox DW. Am J Hum Genet; 1998 Dec; 63(6):1663-74. PubMed ID: 9837819 [Abstract] [Full Text] [Related]
4. Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae. Iida M, Terada K, Sambongi Y, Wakabayashi T, Miura N, Koyama K, Futai M, Sugiyama T. FEBS Lett; 1998 May 29; 428(3):281-5. PubMed ID: 9654149 [Abstract] [Full Text] [Related]
11. 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. Hepatology; 2009 Dec 29; 50(6):1783-95. PubMed ID: 19937698 [Abstract] [Full Text] [Related]
16. Structural and functional insights of Wilson disease copper-transporting ATPase. Fatemi N, Sarkar B. J Bioenerg Biomembr; 2002 Oct 29; 34(5):339-49. PubMed ID: 12539961 [Abstract] [Full Text] [Related]
18. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Park S, Park JY, Kim GH, Choi JH, Kim KM, Kim JB, Yoo HW. Hum Mutat; 2007 Nov 29; 28(11):1108-13. PubMed ID: 17587212 [Abstract] [Full Text] [Related]