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The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
Vonk WI, de Bie P, Wichers CG, van den Berghe PV, van der Plaats R, Berger R, Wijmenga C, Klomp LW, van de Sluis B. Vonk WI, et al. Among authors: de bie p, van den berghe pv, van de sluis b, van der plaats r. Cell Mol Life Sci. 2012 Jan;69(1):149-63. doi: 10.1007/s00018-011-0743-1. Epub 2011 Jun 11. Cell Mol Life Sci. 2012. PMID: 21667063 Free PMC article.
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.
van de Sluis BJ, Breen M, Nanji M, van Wolferen M, de Jong P, Binns MM, Pearson PL, Kuipers J, Rothuizen J, Cox DW, Wijmenga C, van Oost BA. van de Sluis BJ, et al. Among authors: van oost ba, van wolferen m, de jong p. Hum Mol Genet. 1999 Mar;8(3):501-7. doi: 10.1093/hmg/8.3.501. Hum Mol Genet. 1999. PMID: 9949209
Non-Indian childhood cirrhosis.
Müller T, van de Sluis B, Müller W, Pearson P, Wijmenga C. Müller T, et al. Among authors: van de sluis b. Eur J Med Res. 1999 Jul 28;4(7):293-7. Eur J Med Res. 1999. PMID: 10425268 Review.
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.
Müller T, van de Sluis B, Zhernakova A, van Binsbergen E, Janecke AR, Bavdekar A, Pandit A, Weirich-Schwaiger H, Witt H, Ellemunter H, Deutsch J, Denk H, Müller W, Sternlieb I, Tanner MS, Wijmenga C. Müller T, et al. Among authors: van binsbergen e, van de sluis b. J Hepatol. 2003 Feb;38(2):164-8. doi: 10.1016/s0168-8278(02)00356-2. J Hepatol. 2003. PMID: 12547404
A novel role for XIAP in copper homeostasis through regulation of MURR1.
Burstein E, Ganesh L, Dick RD, van De Sluis B, Wilkinson JC, Klomp LW, Wijmenga C, Brewer GJ, Nabel GJ, Duckett CS. Burstein E, et al. Among authors: van de sluis b. EMBO J. 2004 Jan 14;23(1):244-54. doi: 10.1038/sj.emboj.7600031. Epub 2003 Dec 18. EMBO J. 2004. PMID: 14685266 Free PMC article.
107 results