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Works by Paul J. Savelkoul

Results: 6

1

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

Published in:

Pflügers Archiv: European Journal of Physiology, 2008, v. 455, n. 6, p. 1041, doi. 10.1007/s00424-007-0364-6

By:

Kamsteeg, Erik-Jan;
Savelkoul, Paul J. M.;
Hendriks, Giel;
Konings, Irene B. M.;
Nivillac, Nicole M. I.;
Lagendijk, Anne Karine;
van der Sluijs, Peter;
Deen, Peter M. T.

Publication type:

Article

2

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

Published in:

FASEB Journal, 2008, v. 22, n. 11, p. 3846, doi. 10.1096/fj.08-110890

By:

Klootwijk, Riko D.;
Savelkoul, Paul J. M.;
Ciccone, Carla;
Manoli, Irini;
Caplen, Natasha J.;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan

Publication type:

Article

3

Missorting to late endosome/lysosomes due to increased phosphorylation by protein kinase C and mono- ubiquitination of the Aquaporin-2 mutant E258K might explain its role in dominant Nephrogenic Diabetes Insipidus.

Published in:

FASEB Journal, 2007, v. 21, n. 6, p. A956, doi. 10.1096/fasebj.21.6.a956-a

By:

Deen, Peter M. T.;
Savelkoul, Paul J. M.;
Kamsteeg, Erik-Jan;
Hendriks, Giel;
Konings, Irene B. M.;
Van Der Sluijs, Peter

Publication type:

Article

4

High phenylalanine concentrations induce demyelination and microglial activation in mouse cerebellar organotypic slices.

Published in:

Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.926023

By:

Thau-Zuchman, Orli;
Pallier, Patrick N.;
Savelkoul, Paul J. M.;
Kuipers, Almar A. M.;
Verkuyl, J. Martin;
Michael-Titus, Adina T.

Publication type:

Article

5

A specific multi-nutrient formulation enhances M1 muscarinic acetylcholine receptor responses in vitro.

Published in:

Journal of Neurochemistry, 2012, v. 120, n. 4, p. 631, doi. 10.1111/j.1471-4159.2011.07616.x

By:

Savelkoul, Paul J. M.;
Janickova, Helena;
Kuipers, Almar A. M.;
Hageman, Robert J. J.;
Kamphuis, Patrick J.;
Dolezal, Vladimir;
Broersen, Laus M.

Publication type:

Article

6

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

Published in:

Glycobiology, 2005, v. 15, n. 11, p. 1102, doi. 10.1093/glycob/cwi100

By:

Susan E. Sparks;
Carla Ciccone;
Molly Lalor;
Eduard Orvisky;
Riko Klootwijk;
Paul J. Savelkoul;
Marinos C. Dalakas;
Donna M. Krasnewich;
William A. Gahl;
Marjan Huizing

Publication type:

Article