Zobrazeno 1 - 10
of 156
pro vyhledávání: '"E.A. Struys"'
Autor:
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 60-63 (2016)
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative.
Externí odkaz:
https://doaj.org/article/4de213973d8d4ae6aefa8a2c5c8b9f8f
Autor:
N.M. Verhoeven, D.S.M. Schor, E.A. Struys, E.E.W. Jansen, H.J. ten Brink, R.J.A. Wanders, C. Jakobs
Publikováno v:
Journal of Lipid Research, Vol 40, Iss 2, Pp 260-266 (1999)
In this paper we report the development of highly sensitive, selective, and accurate stable isotope dilution gas chromatography negative chemical ionization mass spectrometry (GC-NCI-MS) methods for quantification of peroxisomal β-oxidation intermed
Externí odkaz:
https://doaj.org/article/b727506886a44338977e6d4fa94b9282
Akademický článek
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Autor:
Truus Em Abbink, Abdellatif Bakkali, Christopher D. Morrison, Denise Visser, Timo J. ter Braak, E.A. Struys, Marjo S van der Knaap, Lisanne E. Wisse
Publikováno v:
Nutritional Neuroscience, 25(6), 1219-1230. Maney Publishing
Wisse, L E, Visser, D, ter Braak, T J, Bakkali, A, Struys, E A, Morrison, C D, van der Knaap, M S & Abbink, T E M 2022, ' Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver ', Nutritional Neuroscience, vol. 25, no. 6, pp. 1219-1230 . https://doi.org/10.1080/1028415X.2020.1846356
Wisse, L E, Visser, D, ter Braak, T J, Bakkali, A, Struys, E A, Morrison, C D, van der Knaap, M S & Abbink, T E M 2020, ' Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver ', Nutritional neuroscience . https://doi.org/10.1080/1028415X.2020.1846356
Nutritional neuroscience. Maney Publishing
Wisse, L E, Visser, D, ter Braak, T J, Bakkali, A, Struys, E A, Morrison, C D, van der Knaap, M S & Abbink, T E M 2022, ' Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver ', Nutritional Neuroscience, vol. 25, no. 6, pp. 1219-1230 . https://doi.org/10.1080/1028415X.2020.1846356
Wisse, L E, Visser, D, ter Braak, T J, Bakkali, A, Struys, E A, Morrison, C D, van der Knaap, M S & Abbink, T E M 2020, ' Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver ', Nutritional neuroscience . https://doi.org/10.1080/1028415X.2020.1846356
Nutritional neuroscience. Maney Publishing
Objective: Vanishing white matter (VWM) is a genetic brain white matter disorder caused by mutations in eIF2B. eIF2B is central in the integrated stress response (ISR), during which its activity is inhibited by various cellular stresses. VWM is a chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69606f844515c8da945dafdc9f16b2b7
https://research.vu.nl/en/publications/4c62cd7f-455d-47fb-9f85-1730c766f395
https://research.vu.nl/en/publications/4c62cd7f-455d-47fb-9f85-1730c766f395
Akademický článek
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Autor:
E.A. Struys, Renske C. F. Hebing, Ittai B. Muller, Gerrit Jansen, Willem F. Lems, Jacqueline Cloos, Conny J. van der Laken, Robert de Jonge, Paniz Heydari, Marry Lin, Michael T. Nurmohamed
Publikováno v:
Muller, I B, Lin, M, Struys, E A, Heydari, P, Hebing, R C F, Nurmohamed, M T, van der Laken, C, Lems, W F, Cloos, J, Jansen, G & de Jonge, R 2019, ' Development and validation of a sensitive UHPLC-MS/MS-based method for the analysis of folylpolyglutamate synthetase enzymatic activity in peripheral blood mononuclear cells : application in rheumatoid arthritis and leukemia patients ', Therapeutic Drug Monitoring, vol. 41, no. 5, pp. 598-606 . https://doi.org/10.1097/FTD.0000000000000638
Therapeutic Drug Monitoring, 41(5), 598-606. Lippincott Williams and Wilkins
Therapeutic Drug Monitoring, 41(5), 598-606. Lippincott Williams and Wilkins
BACKGROUND: Folylpolyglutamate synthetase (FPGS) is a crucial enzyme in both cellular folate homeostasis and the intracellular retention of folate analogue drugs such as methotrexate (MTX), which is commonly used for the treatment of (pediatric) leuk
Autor:
Trisha V. Kers, Romain Tching Chi Yen, Martine L.M. Lamfers, Clemens M F Dirven, Stijn L.W. Koolen, Ioannis Ntafoulis, Pim J. French, César Payán-Gómez, Cassandra Verheul, E.A. Struys, Sander Barnhoorn, Pier G. Mastroberardino, Youri Hoogstrate, Sieger Leenstra
BackgroundMutations of the isocitrate dehydrogenase (IDH) gene occur in over 80% of low-grade gliomas and secondary glioblastomas. Despite considerable efforts, endogenous in vitro IDH-mutated glioma models remain scarce. Availability of these models
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e760ff32ce5e7dda6a29f7bb4a3fd1d
https://doi.org/10.1101/2021.04.09.435131
https://doi.org/10.1101/2021.04.09.435131
Autor:
César Payán-Gómez, Martine L.M. Lamfers, Pier G. Mastroberardino, Ioannis Ntafoulis, Stijn L.W. Koolen, Pim J. French, Trisha V. Kers, Clemens M F Dirven, Cassandra Verheul, E.A. Struys, Youri Hoogstrate, Romain Tching Chi Yen, Sieger Leenstra, Sander Barnhoorn
Publikováno v:
Neuro-Oncology Advances, 3(1):vdab103. Oxford University Press
Verheul, C, Ntafoulis, I, Kers, T V, Hoogstrate, Y, Mastroberardino, P G, Barnhoorn, S, Payán-Gómez, C, Tching Chi Yen, R, Struys, E A, Koolen, S L W, Dirven, C M F, Leenstra, S, French, P J & Lamfers, M L M 2021, ' Generation, characterization, and drug sensitivities of 12 patient-derived IDH1-mutant glioma cell cultures ', Neuro-oncology advances, vol. 3, no. 1, vdab103 . https://doi.org/10.1093/noajnl/vdab103
Neuro-oncology advances, 3(1):vdab103. Oxford University Press
Neuro-Oncology Advances
Neuro-oncology Advances
Verheul, C, Ntafoulis, I, Kers, T V, Hoogstrate, Y, Mastroberardino, P G, Barnhoorn, S, Payán-Gómez, C, Tching Chi Yen, R, Struys, E A, Koolen, S L W, Dirven, C M F, Leenstra, S, French, P J & Lamfers, M L M 2021, ' Generation, characterization, and drug sensitivities of 12 patient-derived IDH1-mutant glioma cell cultures ', Neuro-oncology advances, vol. 3, no. 1, vdab103 . https://doi.org/10.1093/noajnl/vdab103
Neuro-oncology advances, 3(1):vdab103. Oxford University Press
Neuro-Oncology Advances
Neuro-oncology Advances
Background Mutations of the isocitrate dehydrogenase (IDH) gene occur in over 80% of low-grade gliomas and secondary glioblastomas. Despite considerable efforts, endogenous in vitro IDH-mutated glioma models remain scarce. Availability of these model
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5f6d073950160a1be8293798e386bf
https://pure.eur.nl/en/publications/45e60580-a703-4ccb-8ad9-9d6ffd013b14
https://pure.eur.nl/en/publications/45e60580-a703-4ccb-8ad9-9d6ffd013b14
Autor:
Bernd Jilma, Thomas Boehm, Barbara Plecko, Karin Petroczi, Holger Hubmann, Déborah Mathis, E.A. Struys, Kristaps Klavins, Guenter Fauler
Publikováno v:
Boehm, T, Hubmann, H, Petroczi, K, Mathis, D, Klavins, K, Fauler, G, Plecko, B, Struys, E & Jilma, B 2020, ' Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency ', Journal of Inherited Metabolic Disease, vol. 43, no. 4, pp. 891-900 . https://doi.org/10.1002/jimd.12214
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(4), 891-900. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(4), 891-900. Springer Netherlands
Antiquitin (ATQ) deficiency leads to tissue, plasma, and urinary accumulation of alpha‐aminoadipic semialdehyde (AASA) and its Schiff base delta‐1‐piperideine‐6‐carboxylate (P6C). Although genetic testing of ALDH7A1 is the most definitive d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a5230eabdd53708a727f0334326088f
https://research.vumc.nl/en/publications/6e5b13db-e887-4266-93aa-19de91303b8a
https://research.vumc.nl/en/publications/6e5b13db-e887-4266-93aa-19de91303b8a
Autor:
E.A. Struys, Wiep Scheper, Ernesto Berenjeno-Correa, Petrus J Hoetjes, Anna Maria van Ziel, Kimberly Wolzak, Anna Nölle, Eelco van Anken
Publikováno v:
Journal of neurochemistry, 152(2), 208-220. Wiley-Blackwell
Journal of Neurochemistry, 152(2), 208-220. Wiley-Blackwell
van Ziel, A M, Wolzak, K, Nölle, A, Hoetjes, P J, Berenjeno-Correa, E, van Anken, E, Struys, E A & Scheper, W 2020, ' No evidence for cell-to-cell transmission of the unfolded protein response in cell culture ', Journal of Neurochemistry, vol. 152, no. 2, pp. 208-220 . https://doi.org/10.1111/jnc.14856
Journal of Neurochemistry
Journal of Neurochemistry, 152(2), 208-220. Wiley-Blackwell
van Ziel, A M, Wolzak, K, Nölle, A, Hoetjes, P J, Berenjeno-Correa, E, van Anken, E, Struys, E A & Scheper, W 2020, ' No evidence for cell-to-cell transmission of the unfolded protein response in cell culture ', Journal of Neurochemistry, vol. 152, no. 2, pp. 208-220 . https://doi.org/10.1111/jnc.14856
Journal of Neurochemistry
The unfolded protein response (UPR) is one of the major cell‐autonomous proteostatic stress responses. The UPR has been implicated in the pathogenesis of neurodegenerative diseases and is therefore actively investigated as therapeutic target. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ee83a17e19cc036ad8f294fb7c9772