Zobrazeno 1 - 10
of 163
pro vyhledávání: '"Stephan Kemp"'
Autor:
Yorrick R. J. Jaspers, Hemmo A. F. Yska, Caroline G. Bergner, Inge M. E. Dijkstra, Irene C. Huffnagel, Marije M. C. Voermans, Eric Wever, Gajja S. Salomons, Frédéric M. Vaz, Aldo Jongejan, Jill Hermans, Rebecca K. Tryon, Troy C. Lund, Wolfgang Köhler, Marc Engelen, Stephan Kemp
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-16 (2024)
Abstract Background X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in plasma and tissues. Males can present with various clinical mani
Externí odkaz:
https://doaj.org/article/d97e5ad3080540c59c9d92f89579ba8b
Autor:
Yorrick R.J. Jaspers, Sven W. Meyer, Mia L. Pras-Raves, Inge M.E. Dijkstra, Eric J.M. Wever, Adrie D. Dane, Jan-Bert van Klinken, Gajja S. Salomons, Riekelt H. Houtkooper, Marc Engelen, Stephan Kemp, Michel Van Weeghel, Frédéric M. Vaz
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 6, Pp 100567- (2024)
Lipids play pivotal roles in an extensive range of metabolic and physiological processes. In recent years, the convergence of trapped ion mobility spectrometry and MS has enabled 4D-lipidomics, a highly promising technology for comprehensive lipid an
Externí odkaz:
https://doaj.org/article/deec6247e3684b2caada44c6c89b50f6
Autor:
Bettina Zierfuss, Agnieszka Buda, Andrea Villoria-González, Maxime Logist, Jure Fabjan, Patricia Parzer, Claire Battin, Streggi Vandersteene, Inge M. E. Dijkstra, Petra Waidhofer-Söllner, Katharina Grabmeier-Pfistershammer, Peter Steinberger, Stephan Kemp, Sonja Forss-Petter, Johannes Berger, Isabelle Weinhofer
Publikováno v:
Journal of Neuroinflammation, Vol 19, Iss 1, Pp 1-20 (2022)
Abstract Saturated very long-chain fatty acids (VLCFA, ≥ C22), enriched in brain myelin and innate immune cells, accumulate in X-linked adrenoleukodystrophy (X-ALD) due to inherited dysfunction of the peroxisomal VLCFA transporter ABCD1. In its sev
Externí odkaz:
https://doaj.org/article/28432a9f70e04eb791392053b1e9a1b7
Autor:
Isabelle Weinhofer, Agnieszka Buda, Markus Kunze, Zsofia Palfi, Matthäus Traunfellner, Sarah Hesse, Andrea Villoria-Gonzalez, Jörg Hofmann, Simon Hametner, Günther Regelsberger, Ann B. Moser, Florian Eichler, Stephan Kemp, Jan Bauer, Jörn-Sven Kühl, Sonja Forss-Petter, Johannes Berger
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-12 (2022)
Using Epstein-Barr virus (EBV) infection of human B cells, the importance of peroxisomal very long-chain fatty acid transport involving ABCD1 in viral infection and host defence is elucidated and applicable also to other herpes- and coronaviruses.
Externí odkaz:
https://doaj.org/article/cafeb30b8fac40d4ab823716a9b46cab
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 51 (2023)
Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) can identify affected individuals before the onset of life-threatening manifestations. Some countries have decided to only screen boys (sex-specific screening). This study investigates t
Externí odkaz:
https://doaj.org/article/4f8a5b0ef41e44f5a78ca0aeb1ddfe7e
Autor:
Agnieszka Buda, Sonja Forss-Petter, Rong Hua, Yorrick Jaspers, Mark Lassnig, Petra Waidhofer-Söllner, Stephan Kemp, Peter Kim, Isabelle Weinhofer, Johannes Berger
Publikováno v:
Biomolecules, Vol 13, Iss 9, p 1333 (2023)
X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA). Strongly affected cell types, such as olig
Externí odkaz:
https://doaj.org/article/1724e468916c4597804767f5bf44649a
Autor:
Bettina Zierfuss, Isabelle Weinhofer, Agnieszka Buda, Niko Popitsch, Lena Hess, Verena Moos, Simon Hametner, Stephan Kemp, Wolfgang Köhler, Sonja Forss‐Petter, Christian Seiser, Johannes Berger
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2161-2177 (2020)
Abstract Objective To assess class I‐histone deacetylase (HDAC) inhibition on formation of lipid‐accumulating, disease‐promoting phagocytes upon myelin load in vitro, relevant for neuroinflammatory disorders like multiple sclerosis (MS) and cer
Externí odkaz:
https://doaj.org/article/40f371d81c5841558e4739b6c421dc16
Autor:
Wouter J. C. vanBallegoij, Stephanie I.W. van deStadt, Irene C. Huffnagel, Stephan Kemp, Eline A. J. Willemse, Charlotte E. Teunissen, Marc Engelen
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2127-2136 (2020)
Abstract Objective To explore the potential of neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) as biomarkers of spinal cord degeneration in adrenoleukodystrophy, as objective treatment‐outcome parameters are needed. Methods Pla
Externí odkaz:
https://doaj.org/article/161dd86984fa48c7bece7abb894f59b8
Autor:
Bettina Zierfuss, Isabelle Weinhofer, Jörn‐Sven Kühl, Wolfgang Köhler, Annette Bley, Katharina Zauner, Johannes Binder, Ksenija Martinović, Christian Seiser, Christoph Hertzberg, Stephan Kemp, Gerda Egger, Gerda Leitner, Jan Bauer, Christoph Wiesinger, Markus Kunze, Sonja Forss‐Petter, Johannes Berger
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 639-652 (2020)
Abstract Objective To identify a pharmacological compound targeting macrophages, the most affected immune cells in inflammatory X‐linked adrenoleukodystrophy (cerebral X‐ALD) caused by ABCD1 mutations and involved in the success of hematopoietic
Externí odkaz:
https://doaj.org/article/25a19368269e4040bd9f1f687a1e1952
Autor:
Sylvia M van der Pal, Sophie Wins, Jasmijn E Klapwijk, Tessa van Dijk, Adriana Kater-Kuipers, Catharina P B van der Ploeg, Suze M P J Jans, Stephan Kemp, Rendelien K Verschoof-Puite, Lion J M van den Bosch, Lidewij Henneman
Publikováno v:
PLoS ONE, Vol 17, Iss 8, p e0272585 (2022)
IntroductionThe goal of newborn bloodspot screening (NBS) is the early detection of treatable disorders in newborns to offer early intervention. Worldwide, the number of conditions screened for is expanding, which might affect public acceptance. In t
Externí odkaz:
https://doaj.org/article/c9b6e25f826244afbbddfb0631273748