Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease

Autor: Anouk G. Groenen, Anouk M. La Rose, Mengying Li, Venetia Bazioti, Arthur F. Svendsen, Niels J. Kloosterhuis, Albertina Ausema, Alle Pranger, M. Rebecca Heiner-Fokkema, Klary E. Niezen-Koning, Tom Houben, Ronit Shiri-Sverdlov, Marit Westerterp

Publikováno v: Journal of Lipid Research, Vol 63, Iss 2, Pp 100167- (2022)

Niemann-Pick type C1 (NPC1) disease is a progressive lysosomal storage disorder caused by mutations of the NPC1 gene. While neurodegeneration is the most severe symptom, a large proportion of NPC1 patients also present with splenomegaly, which has be

Externí odkaz: https://doaj.org/article/d9955d3f851b4a07a0a7d11d236a62ca

Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients

Autor: Elze R. Timmers, Torsten Plösch, Marenka Smit, Ingrid H. Hof, Rikst Nynke Verkaik-Schakel, Marina A. J. Tijssen, Tom J. de Koning, Klary E. Niezen-Koning

Publikováno v: Clinical Epigenetics, 14(1):170. BMC

Background Dystonia is a rare movement disorder, in which patients suffer from involuntary twisting movements or abnormal posturing. Next to these motor symptoms, patients have a high prevalence of psychiatric comorbidity, suggesting a role for serot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ca8a225db4561eeae4db583d63a15c
https://doi.org/10.1186/s13148-022-01384-7

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Autor: David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP

Publikováno v: Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022
Molecular Genetics and Metabolism, 105, 4, pp. 596-601

Item does not contain fulltext Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 miss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9ae52f281961e053d3c517781e1147
https://cris.maastrichtuniversity.nl/en/publications/d080454e-26b4-4a1a-a10c-7b27ead35fbc

71. Nonmodified siRNA leads to downregulation of alpha-glucosidase: Towards a mouse model for Pompe disease

Autor: Klary E. Niezen-Koning, Petra Voorn, Marieke Geel, Marcel H. Ruiters

Publikováno v: Molecular Genetics and Metabolism. 93:32

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::37efa09b27286cab5a862f67323ad56f
https://doi.org/10.1016/j.ymgme.2007.10.083

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

Autor: Hove, J. L. K., Grunewald, S., Jaeken, J., Demaerel, P., Declercq, P. E., Bourdoux, P., Klary E Niezen-Koning, Deanfeld, J. E., Leonard, J. V.

Publikováno v: University of Groningen
LANCET, 361(9367), 1433-1435. ELSEVIER SCIENCE INC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1bbf6d3403de7f40d48988dadb5dd929
https://research.rug.nl/en/publications/51dc81f2-4d13-400e-a8b4-b495dd97699d