Novel perspectives in mammalian copper metabolism through the use of genome-wide approaches.

Autor: Muller PAJ, Klomp LW

Publikováno v: American Journal of Clinical Nutrition; Sep2008, Vol. 88 Issue 3, p821S-5S, 1p

The Copper Metabolism MURR1 domain protein 1 (COMMD1) modulates the aggregation of misfolded protein species in a client-specific manner.

Autor: Vonk WI; University Medical Center Utrecht, Department of Metabolic and Endocrine Diseases, and Netherlands Metabolomics Center, Utrecht, the Netherlands; University Medical Center Utrecht, Complex Genetics Section, Utrecht, the Netherlands., Kakkar V; University of Groningen, University Medical Center Groningen, Department of Cell Biology, Groningen, the Netherlands., Bartuzi P; University of Groningen, University Medical Center Groningen, Molecular Genetics, Groningen, the Netherlands., Jaarsma D; Erasmus Medical Center, Department of Neuroscience, Rotterdam, the Netherlands., Berger R; University Medical Center Utrecht, Department of Metabolic and Endocrine Diseases, and Netherlands Metabolomics Center, Utrecht, the Netherlands., Hofker MH; University of Groningen, University Medical Center Groningen, Molecular Genetics, Groningen, the Netherlands., Klomp LW; University Medical Center Utrecht, Department of Metabolic and Endocrine Diseases, and Netherlands Metabolomics Center, Utrecht, the Netherlands., Wijmenga C; University Medical Center Utrecht, Complex Genetics Section, Utrecht, the Netherlands; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Kampinga HH; University of Groningen, University Medical Center Groningen, Department of Cell Biology, Groningen, the Netherlands., van de Sluis B; University of Groningen, University Medical Center Groningen, Molecular Genetics, Groningen, the Netherlands.

Publikováno v: PloS one [PLoS One] 2014 Apr 01; Vol. 9 (4), pp. e92408. Date of Electronic Publication: 2014 Apr 01 (Print Publication: 2014).

Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia.

Autor: Fuchs SA; Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Postbox 85090, 3508 AB, Utrecht, The Netherlands. S.Fuchs@umcutrecht.nl, Peeters-Scholte CM, de Barse MM, Roeleveld MW, Klomp LW, Berger R, de Koning TJ

Publikováno v: Amino acids [Amino Acids] 2012 Jul; Vol. 43 (1), pp. 355-63. Date of Electronic Publication: 2011 Sep 23.

The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

Autor: Vonk WI; Department of Metabolic and Endocrine Diseases, Netherlands Metabolomics Center, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands., de Bie P, Wichers CG, van den Berghe PV, van der Plaats R, Berger R, Wijmenga C, Klomp LW, van de Sluis B

Publikováno v: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2012 Jan; Vol. 69 (1), pp. 149-63. Date of Electronic Publication: 2011 Jun 11.

A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids.

Autor: Visser WF; University Medical Center Utrecht/Wilhelmina Children's Hospital, Department of Metabolic and Endocrine Diseases, Utrecht, The Netherlands., Verhoeven-Duif NM, Ophoff R, Bakker S, Klomp LW, Berger R, de Koning TJ

Publikováno v: Journal of chromatography. A [J Chromatogr A] 2011 Oct 07; Vol. 1218 (40), pp. 7130-6. Date of Electronic Publication: 2011 Aug 03.