806 related articles for article (PubMed ID: 19937698)
1. 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; 50(6):1783-95. PubMed ID: 19937698
[TBL] [Abstract][Full Text] [Related]
2. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
de Bie P; van de Sluis B; Burstein E; van de Berghe PV; Muller P; Berger R; Gitlin JD; Wijmenga C; Klomp LW
Gastroenterology; 2007 Oct; 133(4):1316-26. PubMed ID: 17919502
[TBL] [Abstract][Full Text] [Related]
3. Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.
Chesi G; Hegde RN; Iacobacci S; Concilli M; Parashuraman S; Festa BP; Polishchuk EV; Di Tullio G; Carissimo A; Montefusco S; Canetti D; Monti M; Amoresano A; Pucci P; van de Sluis B; Lutsenko S; Luini A; Polishchuk RS
Hepatology; 2016 Jun; 63(6):1842-59. PubMed ID: 26660341
[TBL] [Abstract][Full Text] [Related]
4. Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N; Kumar A; Thapa BR; Modi M; Pal A; Prasad R
Hum Mutat; 2018 Dec; 39(12):1926-1941. PubMed ID: 30120852
[TBL] [Abstract][Full Text] [Related]
5. Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
Chandhok G; Horvath J; Aggarwal A; Bhatt M; Zibert A; Schmidt HH
World J Gastroenterol; 2016 Apr; 22(16):4109-19. PubMed ID: 27122662
[TBL] [Abstract][Full Text] [Related]
6. 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
[TBL] [Abstract][Full Text] [Related]
7. [Wilson disease: an update].
Seo JK
Korean J Hepatol; 2006 Sep; 12(3):333-63. PubMed ID: 16998287
[TBL] [Abstract][Full Text] [Related]
8. Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
Bost M; Piguet-Lacroix G; Parant F; Wilson CM
J Trace Elem Med Biol; 2012 Jun; 26(2-3):97-101. PubMed ID: 22677543
[TBL] [Abstract][Full Text] [Related]
9. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609
[TBL] [Abstract][Full Text] [Related]
10. Copper transporting P-type ATPases and human disease.
Cox DW; Moore SD
J Bioenerg Biomembr; 2002 Oct; 34(5):333-8. PubMed ID: 12539960
[TBL] [Abstract][Full Text] [Related]
11. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
Seidel J; Caca K; Schwab SG; Berr F; Wildenauer DB; Mentzel HJ; Horn N; Kauf E
Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL149-57. PubMed ID: 11936861
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Roy S; McCann CJ; Ralle M; Ray K; Ray J; Lutsenko S; Jayakanthan S
Sci Rep; 2020 Aug; 10(1):13487. PubMed ID: 32778786
[TBL] [Abstract][Full Text] [Related]
14. Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
Braiterman LT; Murthy A; Jayakanthan S; Nyasae L; Tzeng E; Gromadzka G; Woolf TB; Lutsenko S; Hubbard AL
Proc Natl Acad Sci U S A; 2014 Apr; 111(14):E1364-73. PubMed ID: 24706876
[TBL] [Abstract][Full Text] [Related]
15. Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.
Zhang S; Chen S; Li W; Guo X; Zhao P; Xu J; Chen Y; Pan Q; Liu X; Zychlinski D; Lu H; Tortorella MD; Schambach A; Wang Y; Pei D; Esteban MA
Hum Mol Genet; 2011 Aug; 20(16):3176-87. PubMed ID: 21593220
[TBL] [Abstract][Full Text] [Related]
16. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.
Huster D; Hoppert M; Lutsenko S; Zinke J; Lehmann C; Mössner J; Berr F; Caca K
Gastroenterology; 2003 Feb; 124(2):335-45. PubMed ID: 12557139
[TBL] [Abstract][Full Text] [Related]
17. Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.
Das S; Mohammed A; Mandal T; Maji S; Verma J; Ruturaj ; Gupta A
Hum Mutat; 2022 Oct; 43(10):1408-1429. PubMed ID: 35762218
[TBL] [Abstract][Full Text] [Related]
18. The 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.
Morgan CT; Tsivkovskii R; Kosinsky YA; Efremov RG; Lutsenko S
J Biol Chem; 2004 Aug; 279(35):36363-71. PubMed ID: 15205462
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic analysis of pediatric patients with Wilson disease.
Şimşek Papur Ö; Aşık Akman S; Terzioğlu O
Turk J Gastroenterol; 2015 Sep; 26(5):397-403. PubMed ID: 26215059
[TBL] [Abstract][Full Text] [Related]
20. Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
Zhu M; Dong Y; Ni W; Wu ZY
Mol Cell Neurosci; 2015 Jul; 67():31-6. PubMed ID: 26032686
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]