Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Willem Kulik"'
Autor:
Frédéric M. Vaz, Albert H. Bootsma, Willem Kulik, Aad Verrips, Ron A. Wevers, Peter C. Schielen, Andrea E. DeBarber, Hidde H. Huidekoper
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 5, Pp 1002-1007 (2017)
Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excel
Externí odkaz:
https://doaj.org/article/149f04e1e52c4d299760cb20acaf0e0e
Autor:
Femke S. Stet, Frédéric M. Vaz, Johanne H. Klinkspoor, Susan M. I. Goorden, Riekelt H. Houtkooper, Martin A. T. Vervaart, Hilary J. Vernon, Ronald J.A. Wanders, Henk van Lenthe, Willem Kulik
Publikováno v:
Journal of inherited metabolic disease, 45(1), 29-37. Springer Netherlands
Barth syndrome is an X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia, caused by deleterious variants in TAFAZZIN. This gene encodes a phospholipid-lysophospholipid transacylase that is required for the remodeling
Autor:
David P. Sonne, Willem Kulik, Tina Vilsbøll, F. Samuel van Nierop, Filip K. Knop, Maarten R. Soeters
Publikováno v:
Journal of clinical endocrinology and metabolism, 101(8), 3002-3009. The Endocrine Society
Bile acids regulate lipid and carbohydrate metabolism by interaction with membrane or intracellular proteins including the nuclear farnesoid X receptor (FXR). Postprandial activation of ileal FXR leads to secretion of fibroblast growth factor 19 (FGF
Autor:
Albert H. Bootsma, Andrea E. DeBarber, Hidde H. Huidekoper, Peter C. J. I. Schielen, Aad Verrips, Willem Kulik, Frédéric M. Vaz, Ron A. Wevers
Publikováno v:
Journal of Lipid Research, 58, 1002-1007
Journal of Lipid Research, 58, 5, pp. 1002-1007
Journal of Lipid Research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, Vol 58, Iss 5, Pp 1002-1007 (2017)
Journal of lipid research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, 58, 5, pp. 1002-1007
Journal of Lipid Research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, Vol 58, Iss 5, Pp 1002-1007 (2017)
Journal of lipid research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Contains fulltext : 174067.pdf (Publisher’s version ) (Open Access) Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98fda6ad65248bd8cdc39337119cc2b
http://hdl.handle.net/2066/174067
http://hdl.handle.net/2066/174067
Autor:
Angela Gritti, Luigi Naldini, Eugenio Montini, Francesco Morena, Fabrizio Benedicenti, Claudio Maderna, Sabata Martino, Annalisa Lattanzi, Camilla Salvagno, Willem Kulik
Publikováno v:
Human Molecular Genetics
Human molecular genetics, 23(12), 3250-3268. Oxford University Press
Human molecular genetics, 23(12), 3250-3268. Oxford University Press
Globoid cell leukodystrophy (GLD) is an inherited lysosomal storage disease caused by β-galactocerebrosidase (GALC) deficiency. Gene therapy (GT) should provide rapid, extensive and lifetime GALC supply in central nervous system (CNS) tissues to pre
Autor:
Regan Solomons, Carolus J. Reinecke, Arno van Cruchten, Willem Kulik, Shayne Mason, A. Marceline van Furth
Publikováno v:
BMC Infectious Diseases, 16. BioMed Central
BMC Infectious Diseases
Mason, S, Reinecke, C J, Kulik, W, van Cruchten, A, Solomons, R & van Furth, A M T 2016, ' Cerebrospinal fluid in tuberculous meningitis exhibits only the L-enantiomer of lactic acid ', BMC Infectious Diseases, vol. 16 . https://doi.org/10.1186/s12879-016-1597-9
BMC infectious diseases, 16(1). BioMed Central
BMC Infectious Diseases
Mason, S, Reinecke, C J, Kulik, W, van Cruchten, A, Solomons, R & van Furth, A M T 2016, ' Cerebrospinal fluid in tuberculous meningitis exhibits only the L-enantiomer of lactic acid ', BMC Infectious Diseases, vol. 16 . https://doi.org/10.1186/s12879-016-1597-9
BMC infectious diseases, 16(1). BioMed Central
Background The defining feature of the cerebrospinal fluid (CSF) collected from infants and children with tuberculous meningitis (TBM), derived from an earlier untargeted nuclear magnetic resonance (NMR) metabolomics study, was highly elevated lactic
Autor:
Paul E. Minkler, Sander M. Houten, Charles L. Hoppel, Hans P. Sauerwein, Marinus Duran, Willem Kulik, Mireille J. Serlie, Ronald J.A. Wanders, Maarten R. Soeters, Jos P.N. Ruiter, Mariëtte T. Ackermans
Publikováno v:
Metabolism: clinical and experimental, 61(7), 966-973. W.B. Saunders Ltd
Metabolism-Clinical and Experimental, 61(7), 966-973. W B Saunders Co-Elsevier Inc
Metabolism-Clinical and Experimental, 61(7), 966-973. W B Saunders Co-Elsevier Inc
Hydroxybutyrylcarnitine (HB-carnitine) is a metabolite that has been associated with insulin resistance and type 2 diabetes mellitus. It is currently unknown whether HB-carnitine can be produced from D-3-hydroxybutyrate (D-3HB), a ketone body; but it
Publikováno v:
Analytical Techniques for Clinical Chemistry: Methods and Applications
Autor:
Z. Maakaroun-Vermesse, Gabor Matyas, Gilles Simard, Willem Kulik, Alain Chantepie, François Labarthe, Annick Toutain, Hélène Blasco, Cédric Le Caignec, M.C. Vaillant, Laure Cosson, Agnès Guichet
Publikováno v:
Molecular genetics and metabolism, 106(1), 115-120. Academic Press Inc.
Background: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in t
Autor:
Alessandra Ricca, Patrizia Aimar, Sabata Martino, Angela Gritti, Willem Kulik, Sara Santambrogio, Claudio Maderna, Massimo Aureli, Sandro Sonnino, Alessandro Ieraci, Luca Bonfanti
Publikováno v:
Human molecular genetics, 21(21), 4732-4750. Oxford University Press
Human Molecular Genetics; Vol 21
Human Molecular Genetics
Human Molecular Genetics; Vol 21
Human Molecular Genetics
We report a novel role for the lysosomal galactosylceramidase (GALC), which is defective in globoid cell leukodystrophy (GLD), in maintaining a functional post-natal subventricular zone (SVZ) neurogenic niche. We show that proliferation/self-renewal