Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Johannes M.F.G. Aerts"'
Autor:
Lindsey T. Lelieveld, Sophie Gerhardt, Saskia Maas, Kimberley C. Zwiers, Claire de Wit, Ernst H. Beijk, Maria J. Ferraz, Marta Artola, Annemarie H. Meijer, Christian Tudorache, Daniela Salvatori, Rolf G. Boot, Johannes M.F.G. Aerts
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 5, Pp 100199- (2022)
Abstract: In Gaucher disease (GD), the deficiency of glucocerebrosidase causes lysosomal accumulation of glucosylceramide (GlcCer), which is partly converted by acid ceramidase to glucosylsphingosine (GlcSph) in the lysosome. Chronically elevated blo
Externí odkaz:
https://doaj.org/article/aa3d445ab3fa4e6ca569b196780b716f
Autor:
Maria Dahl, Emma M.K. Smith, Sarah Warsi, Michael Rothe, Maria J. Ferraz, Johannes M.F.G. Aerts, Azadeh Golipour, Claudia Harper, Richard Pfeifer, Daniella Pizzurro, Axel Schambach, Chris Mason, Stefan Karlsson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 312-323 (2021)
Gaucher disease type 1 (GD1) is an inherited lysosomal disorder with multisystemic effects in patients. Hallmark symptoms include hepatosplenomegaly, cytopenias, and bone disease with varying degrees of severity. Mutations in a single gene, glucosida
Externí odkaz:
https://doaj.org/article/07372d5f46f04d9c947be435687180aa
Autor:
Jeroen van Smeden, Hanin Al-Khakany, Yichen Wang, Dani Visscher, Nicole Stephens, Samira Absalah, Herman S. Overkleeft, Johannes M.F.G. Aerts, Alain Hovnanian, Joke A. Bouwstra
Publikováno v:
Journal of Lipid Research, Vol 61, Iss 6, Pp 859-869 (2020)
Individuals with Netherton syndrome (NTS) have increased serine protease activity, which strongly impacts the barrier function of the skin epidermis and leads to skin inflammation. Here, we investigated how serine protease activity in NTS correlates
Externí odkaz:
https://doaj.org/article/c986b4ebf6c140799096c6d0fac06e3a
Autor:
Lindsey T. Lelieveld, Mina Mirzaian, Chi-Lin Kuo, Marta Artola, Maria J. Ferraz, Remco E.A. Peter, Hisako Akiyama, Peter Greimel, Richard J.B.H.N. van den Berg, Herman S. Overkleeft, Rolf G. Boot, Annemarie H. Meijer, Johannes M.F.G. Aerts
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 11, Pp 1851-1867 (2019)
μ-glucosidases [GBA1 (glucocerebrosidase) and GBA2] are ubiquitous essential enzymes. Lysosomal GBA1 and cytosol-facing GBA2 degrade glucosylceramide (GlcCer); GBA1 deficiency causes Gaucher disease, a lysosomal storage disorder characterized by lys
Externí odkaz:
https://doaj.org/article/05ce0c35bb594489bd17fa37e18c9942
Autor:
Simon Wheeler, Per Haberkant, Meenakshi Bhardwaj, Paige Tongue, Maria J. Ferraz, David Halter, Hein Sprong, Ralf Schmid, Johannes M.F.G. Aerts, Nikol Sullo, Dan J. Sillence
Publikováno v:
Neurobiology of Disease, Vol 127, Iss , Pp 242-252 (2019)
Niemann-Pick type C disease (NPCD) is a neurodegenerative disease associated with increases in cellular cholesterol and glycolipids and most commonly caused by defective NPC1, a late endosomal protein. Using ratiometric probes we find that NPCD cells
Externí odkaz:
https://doaj.org/article/6fb5ca776cce47189af2095afd786cce
Publikováno v:
Journal of Lipid Research, Vol 59, Iss 12, Pp 2262-2276 (2018)
Glycosyl hydrolases (GHs) are carbohydrate-active enzymes that hydrolyze a specific β-glycosidic bond in glycoconjugate substrates; β-glucosidases degrade glucosylceramide, a ubiquitous glycosphingolipid. GHs are grouped into structurally similar f
Externí odkaz:
https://doaj.org/article/9c8b582bbcad456b8d51eb5d7d41dc61
Autor:
Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100618- (2020)
Enzyme replacement therapy (ERT) has been shown to stabilize certain aspects of Fabry disease (FD). However, in some patients on ERT, high antibody titres have been documented, with limited clinical improvement in systemic manifestations and often wi
Externí odkaz:
https://doaj.org/article/23d63e924b9b4c13a433ac1a3d2aa15a
Autor:
Jeroen van Smeden, Irini M. Dijkhoff, Richard W.J. Helder, Hanin Al-Khakany, Daphne E.C. Boer, Anne Schreuder, Wouter W. Kallemeijn, Samira Absalah, Herman S. Overkleeft, Johannes M.F.G. Aerts, Joke A. Bouwstra
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 12, Pp 2299-2309 (2017)
Epidermal β-glucocerebrosidase (GBA1), an acid β-glucosidase normally located in lysosomes, converts (glucosyl)ceramides into ceramides, which is crucial to generate an optimal barrier function of the outermost skin layer, the stratum corneum (SC).
Externí odkaz:
https://doaj.org/article/00a799f942364befb5381154410a58c9
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 1, p 66 (2018)
Several diseases are caused by inherited defects in lysosomes, the so-called lysosomal storage disorders (LSDs). In some of these LSDs, tissue macrophages transform into prominent storage cells, as is the case in Gaucher disease. Here, macrophages be
Externí odkaz:
https://doaj.org/article/295757102a1941749e1906f208dfbdbe
Autor:
Anton P. Bussink, Paul F. van Swieten, Karen Ghauharali, Saskia Scheij, Marco van Eijk, Tom Wennekes, Gijs A. van der Marel, Rolf G. Boot, Johannes M.F.G. Aerts, Herman S. Overkleeft
Publikováno v:
Journal of Lipid Research, Vol 48, Iss 6, Pp 1417-1421 (2007)
Peracetylated N-α-azidoacetylmannosamine (Ac4ManNAz) is metabolized by cells to CMP-azidosialic acid. It has been demonstrated previously that in this way azidosialic acid-containing glycoproteins are formed that can be labeled on the cell surface b
Externí odkaz:
https://doaj.org/article/66c6502612744bc7b882a6938d45887c