Search Results - "Boot, Rolf G."

Lyso-glycosphingolipids: presence and consequences by van Eijk, Marco, Ferraz, Maria J, Boot, Rolf G, Aerts, Johannes M F G

“…Lyso-glycosphingolipids are generated in excess in glycosphingolipid storage disorders. In the course of these pathologies glycosylated sphingolipid species…”
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Glycosphingolipids-Nature, Function, and Pharmacological Modulation by Wennekes, Tom, van den Berg, Richard J. B. H. N., Boot, Rolf G., van der Marel, Gijsbert A., Overkleeft, Herman S., Aerts, Johannes M. F. G.

“…The discovery of the glycosphingolipids is generally attributed to Johan L. W. Thudichum, who in 1884 published on the chemical composition of the brain. In…”
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Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases by Ferraz, Maria J., Marques, André R. A., Appelman, Monique D., Verhoek, Marri, Strijland, Anneke, Mirzaian, Mina, Scheij, Saskia, Ouairy, Cécile M., Lahav, Daniel, Wisse, Patrick, Overkleeft, Herman S., Boot, Rolf G., Aerts, Johannes M.

“…Glycosphingoid bases are elevated in inherited lysosomal storage disorders with deficient activity of glycosphingolipid catabolizing glycosidases. We…”
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Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions by Kok, Ken, Zwiers, Kimberley C, Boot, Rolf G, Overkleeft, Hermen S, Aerts, Johannes M F G, Artola, Marta

“…Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic…”
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6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols by Bannink, Stef, Bila, Kateryna O., van Weperen, Joosje, Ligthart, Nina A.M., Ferraz, Maria J., Boot, Rolf G., van der Vliet, Daan, Boer, Daphne.E.C., Overkleeft, Herman S., Artola, Marta, Aerts, Johannes M.F.G.

“…Gaucher disease (GD) is a lysosomal storage disorder (LSD) resulting from inherited glucocerebrosidase (GBA1) deficiency. GD diagnosis relies on GBA1 activity…”
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Elevated globotriaosylsphingosine is a hallmark of Fabry disease by Aerts, Johannes M, Groener, Johanna E, Kuiper, Sijmen, Donker-Koopman, Wilma E, Strijland, Anneke, Ottenhoff, Roelof, van Roomen, Cindy, Mirzaian, Mina, Wijburg, Frits A, Linthorst, Gabor E, Vedder, Anouk C, Rombach, Saskia M, Cox-Brinkman, Josanne, Somerharju, Pentti, Boot, Rolf G, Hollak, Carla E, Brady, Roscoe O, Poorthuis, Ben J

“…Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows disease expression in…”
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Increased YKL-40 and Chitotriosidase in Asthma and Chronic Obstructive Pulmonary Disease by James, Anna J, Reinius, Lovisa E, Verhoek, Marri, Gomes, Anna, Kupczyk, Maciej, Hammar, Ulf, Ono, Junya, Ohta, Shoichiro, Izuhara, Kenji, Bel, Elisabeth, Kere, Juha, Söderhäll, Cilla, Dahlén, Barbro, Boot, Rolf G, Dahlén, Sven-Erik

“…Serum chitinases may be novel biomarkers of airway inflammation and remodeling, but less is known about factors regulating their levels. To examine serum…”
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Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response by Dekker, Nick, van Dussen, Laura, Hollak, Carla E.M., Overkleeft, Herman, Scheij, Saskia, Ghauharali, Karen, van Breemen, Mariëlle J., Ferraz, Maria J., Groener, Johanna E.M., Maas, Mario, Wijburg, Frits A., Speijer, Dave, Tylki-Szymanska, Anna, Mistry, Pramod K., Boot, Rolf G., Aerts, Johannes M.

“…Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide accumulation in lysosomes of tissue…”
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Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish by Lelieveld, Lindsey T., Gerhardt, Sophie, Maas, Saskia, Zwiers, Kimberley C., de Wit, Claire, Beijk, Ernst H., Ferraz, Maria J., Artola, Marta, Meijer, Annemarie H., Tudorache, Christian, Salvatori, Daniela, Boot, Rolf G., Aerts, Johannes M.F.G.

“…In Gaucher disease (GD), the deficiency of glucocerebrosidase causes lysosomal accumulation of glucosylceramide (GlcCer), which is partly converted by acid…”
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Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses by Ferraz, Maria J., Kallemeijn, Wouter W., Mirzaian, Mina, Herrera Moro, Daniela, Marques, Andre, Wisse, Patrick, Boot, Rolf G., Willems, Lianne I., Overkleeft, H.S., Aerts, J.M.

“…Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases…”
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Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice by Marques, André R A, Aten, Jan, Ottenhoff, Roelof, van Roomen, Cindy P A A, Herrera Moro, Daniela, Claessen, Nike, Vinueza Veloz, María Fernanda, Zhou, Kuikui, Lin, Zhanmin, Mirzaian, Mina, Boot, Rolf G, De Zeeuw, Chris I, Overkleeft, Herman S, Yildiz, Yildiz, Aerts, Johannes M F G

“…The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations…”
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Evolution of Mammalian Chitinase(-Like) Members of Family 18 Glycosyl Hydrolases by Bussink, Anton P, Speijer, Dave, Aerts, Johannes M. F. G, Boot, Rolf G

“…Family 18 of glycosyl hydrolases encompasses chitinases and so-called chi-lectins lacking enzymatic activity due to amino acid substitutions in their active…”
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Functionalized Cyclophellitols Are Selective Glucocerebrosidase Inhibitors and Induce a Bona Fide Neuropathic Gaucher Model in Zebrafish by Artola, Marta, Kuo, Chi-Lin, Lelieveld, Lindsey T, Rowland, Rhianna J, van der Marel, Gijsbert A, Codée, Jeroen D. C, Boot, Rolf G, Davies, Gideon J, Aerts, Johannes M. F. G, Overkleeft, Herman S

“…Gaucher disease is caused by inherited deficiency in glucocerebrosidase (GBA, a retaining β-glucosidase), and deficiency in GBA constitutes the largest known…”
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Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases[S] by Marques, AndréR.A., Mirzaian, Mina, Akiyama, Hisako, Wisse, Patrick, Ferraz, Maria J., Gaspar, Paulo, Ghauharali-van der Vlugt, Karen, Meijer, Rianne, Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Dahl, Maria, Karlsson, Stefan, Pavlova, Elena V., Cox, Timothy M., Scheij, Saskia, Verhoek, Marri, Ottenhoff, Roelof, van Roomen, CindyP.A.A., Pannu, Navraj S., van Eijk, Marco, Dekker, Nick, Boot, Rolf G., Overkleeft, Herman S., Blommaart, Edward, Hirabayashi, Yoshio, Aerts, Johannes M.

“…The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA)…”
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The chitinase-like protein YKL-40: A possible biomarker of inflammation and airway remodeling in severe pediatric asthma by Konradsen, Jon R., MD, PhD, James, Anna, PhD, Nordlund, Björn, RN, Reinius, Lovisa E., PhD, Söderhäll, Cilla, PhD, Melén, Erik, MD, PhD, Wheelock, Åsa, PhD, Lödrup Carlsen, Karin C., MD, PhD, Lidegran, Marika, MD, PhD, Verhoek, Marri, Boot, Rolf G., PhD, Dahlén, Barbro, MD, PhD, Dahlén, Sven Erik, MD, PhD, Hedlin, Gunilla, MD, PhD

“…Background Problematic severe childhood asthma includes a subgroup of patients who are resistant to therapy. The specific mechanisms involved are unknown, and…”
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Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard by Mirzaian, Mina, Wisse, Patrick, Ferraz, Maria J., Gold, Henrik, Donker-Koopman, Wilma E., Verhoek, Marri, Overkleeft, Herman S., Boot, Rolf G., Kramer, Gertjan, Dekker, Nick, Aerts, Johannes M.F.G.

“…Deficiency of glucocerebrosidase (GBA) leads to Gaucher disease (GD), an inherited disorder characterised by storage of glucosylceramide (GlcCer) in lysosomes…”
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Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions by Boer, Daphne E., Mirzaian, Mina, Ferraz, Maria J., Zwiers, Kimberley C., Baks, Merel V., Hazeu, Marc D., Ottenhoff, Roelof, Marques, André R.A., Meijer, Rianne, Roos, Jonathan C.P., Cox, Timothy M., Boot, Rolf G., Pannu, Navraj, Overkleeft, Herman S., Artola, Marta, Aerts, Johannes M.

“…Deficiency of glucocerebrosidase (GBA), a lysosomal β-glucosidase, causes Gaucher disease. The enzyme hydrolyzes β-glucosidic substrates and transglucosylates…”
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Chitotriosidase is the primary active chitinase in the human lung and is modulated by genotype and smoking habit by Seibold, Max A., PhD, Donnelly, Samantha, PhD, Solon, Margaret, BA, Innes, Anh, MD, Woodruff, Prescott G., MD, MPH, Boot, Rolf G., PhD, Burchard, Esteban González, MD, MPH, Fahy, John V., MD, MSc

“…Background Chitinolytic enzymes play important roles in the pathophysiology of allergic airway responses in mouse models of asthma. Acidic mammalian chitinase…”
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Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes by Herrera Moro Chao, Daniela, Kallemeijn, Wouter W, Marques, Andre R A, Orre, Marie, Ottenhoff, Roelof, van Roomen, Cindy, Foppen, Ewout, Renner, Maria C, Moeton, Martina, van Eijk, Marco, Boot, Rolf G, Kamphuis, Willem, Hol, Elly M, Aten, Jan, Overkleeft, Hermen S, Kalsbeek, Andries, Aerts, Johannes M F G

“…Gaucher disease is characterized by lysosomal accumulation of glucosylceramide due to deficient activity of lysosomal glucocerebrosidase (GBA). In cells,…”
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Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity by van Eijk, Marco, van Roomen, Cindy P. A. A., Renkema, G. Herma, Bussink, Anton P., Andrews, Laura, Blommaart, Edward F. C., Sugar, Alan, Verhoeven, Arthur J., Boot, Rolf G., Aerts, Johannes M. F. G.

“…Man has been found to produce highly conserved chitinases. The most prominent is the phagocyte-derived chitotriosidase, the plasma levels of which are markedly…”
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