Zobrazeno 1 - 10
of 361
pro vyhledávání: '"Hans R. Waterham"'
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
ObjectiveBi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD). We generated and characte
Externí odkaz:
https://doaj.org/article/d7dbf338f78b42f79c1c5a5f27834b04
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 5, Pp 100364- (2023)
Peroxisomes are single-membrane bounded organelles that in humans play a dual role in lipid metabolism, including the degradation of very long-chain fatty acids and the synthesis of ether lipids/plasmalogens. The first step in de novo ether lipid syn
Externí odkaz:
https://doaj.org/article/d3dbfee03d5e473f9f7dfc2fe5820712
Autor:
Selva Turkolmez, Serhii Chornyi, Sondos Alhajouj, Lodewijk IJlst, Hans R. Waterham, Phil J. Mitchell, Ewald H. Hettema, Carlo W. T. van Roermund
Publikováno v:
Biomolecules, Vol 13, Iss 9, p 1294 (2023)
Debaryomyces hansenii is considered an unconventional yeast with a strong biotechnological potential, which can produce and store high amounts of lipids. However, relatively little is known about its lipid metabolism, and genetic tools for this yeast
Externí odkaz:
https://doaj.org/article/c074d709e88641dba553515120aebcff
Autor:
Cláudio F. Costa, Celien Lismont, Serhii Chornyi, Hongli Li, Mohamed A. F. Hussein, Hans R. Waterham, Marc Fransen
Publikováno v:
Antioxidants, Vol 12, Iss 6, p 1236 (2023)
Peroxisomes serve as important centers for cellular redox metabolism and communication. However, fundamental gaps remain in our understanding of how the peroxisomal redox equilibrium is maintained. In particular, very little is known about the functi
Externí odkaz:
https://doaj.org/article/986ad53d97c240deaa3d71cd351cc5a5
Autor:
Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 12-18 (2021)
Abstract Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the
Externí odkaz:
https://doaj.org/article/cb91c53ae02a4567a0df7f2ee355599a
Autor:
Carlo W. T. van Roermund, Lodewijk IJlst, Nicole Linka, Ronald J. A. Wanders, Hans R. Waterham
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2022)
Peroxisomes are essential organelles involved in various metabolic processes, including fatty acid β-oxidation. Their metabolic functions require a controlled exchange of metabolites and co-factors, including ATP, across the peroxisomal membrane. We
Externí odkaz:
https://doaj.org/article/8c7b751b90d943c080cc6dea25315715
Autor:
Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Abstract Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an addition
Externí odkaz:
https://doaj.org/article/b313ae0552894ab4b545c7fc6b8eee71
Autor:
Amelie S. Lotz-Havla, Mathias Woidy, Philipp Guder, Jessica Schmiesing, Ralf Erdmann, Hans R. Waterham, Ania C. Muntau, Søren W. Gersting
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Peroxisomes share metabolic pathways with other organelles and peroxisomes are embedded into key cellular processes. However, the specific function of many peroxisomal proteins remains unclear and restricted knowledge of the peroxisomal protein inter
Externí odkaz:
https://doaj.org/article/1d918e65f1b043d5b0911c91c23a0f2f
Autor:
Frouwkje A. Politiek, Hans R. Waterham
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resultin
Externí odkaz:
https://doaj.org/article/31f6d2a4c60e46088d9662520a8d229c
Autor:
Femke C. C. Klouwer, Kim D. Falkenberg, Rob Ofman, Janet Koster, Démi van Gent, Sacha Ferdinandusse, Ronald J. A. Wanders, Hans R. Waterham
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Peroxisome biogenesis disorders within the Zellweger spectrum (PBD-ZSDs) are most frequently associated with the c.2528G>A (p.G843D) mutation in the PEX1 gene (PEX1-G843D), which results in impaired import of peroxisomal matrix proteins and, conseque
Externí odkaz:
https://doaj.org/article/714d994559274b5aa2102e279188ee8d