Výsledky vyhledávání - "Klary E. Niezen-Koning"

Akademický článek

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

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Akademický článek

Gut Microbiome Composition in Dystonia Patients

Autor: Elze R. Timmers, J. Casper Swarte, Ranko Gacesa, Johannes R. Björk, Rinse K. Weersma, Marina A. J. Tijssen, Tom J. de Koning, Hermie J. M. Harmsen, Klary E. Niezen-Koning

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 3, p 2383 (2023)

Dystonia is a movement disorder in which patients have involuntary abnormal movements or postures. Non-motor symptoms, such as psychiatric symptoms, sleep problems and fatigue, are common. We hypothesise that the gut microbiome might play a role in t

Externí odkaz: https://doaj.org/article/97a55b1f11d14514ade296904549ae8e

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Akademický článek

The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?

Autor: Archibold Mposhi, Lin Liang, Kevin P. Mennega, Dilemin Yildiz, Crista Kampert, Ingrid H. Hof, Pytrick G. Jellema, Tom J. de Koning, Klaas Nico Faber, Marcel H. J. Ruiters, Klary E. Niezen-Koning, Marianne G. Rots

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 4, p 2197 (2022)

Mutations in either mitochondrial DNA (mtDNA) or nuclear genes that encode mitochondrial proteins may lead to dysfunctional mitochondria, giving rise to mitochondrial diseases. Some mitochondrial myopathies, however, present without a known underlyin

Externí odkaz: https://doaj.org/article/e688bf36180349f185121c1f58f82ea5

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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

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The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?

Publikováno v: International Journal of Molecular Sciences, 23(4):2197. MDPI AG
International Journal of Molecular Sciences; Volume 23; Issue 4; Pages: 2197

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326500edf33ede62fc7c8808de281720
https://pubmed.ncbi.nlm.nih.gov/35216315

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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

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