Výsledky vyhledávání - "Polder, Emiel"

Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions

Autor: Wisse, Lisanne E., Penning, Renske, Zaal, Esther A., van Berkel, Carola G M, ter Braak, Timo J., Polder, Emiel, Kenney, Justin W., Proud, Christopher G, Berkers, Celia R., Altelaar, Maarten A.F., Speijer, Dave, van der Knaap, Marjo S, Abbink, Truus E.M., Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics

Publikováno v: Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience, 11:411. Frontiers Media S.A.
Frontiers in Cellular Neuroscience, Vol 11 (2017)
Frontiers in cellular neuroscience, 11. Frontiers Media S.A.
Frontiers in Cellular Neuroscience, 11. Frontiers Media S.A.
Wisse, L E, Penning, R, Zaal, E A, van Berkel, C G M, ter Braak, T J, Polder, E, Kenney, J W, Proud, C G, Berkers, C R, Altelaar, M A F, Speijer, D, van der Knaap, M S & Abbink, T E M 2017, ' Proteomic and metabolomic analyses of vanishing white matter mouse astrocytes reveal deregulation of ER functions ', Frontiers in Cellular Neuroscience, vol. 11, 411 . https://doi.org/10.3389/fncel.2017.00411

Vanishing white matter (VWM) is a leukodystrophy with predominantly early-childhood onset. Affected children display various neurological signs, including ataxia and spasticity, and die early. VWM patients have bi-allelic mutations in any of the five

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91fa1cc30254d4b349b3588cb55df7cf
https://pubmed.ncbi.nlm.nih.gov/29375313

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Astrocytes are central in the pathomechanisms of vanishing white matter

Autor: Dooves, Stephanie, Bugiani, Marianna, Postma, Nienke L., Polder, Emiel, Land, Niels, Horan, Stephen T., van Deijk, Anne-Lieke F., van de Kreeke, Aleid, Jacobs, Gerbren, Vuong, Caroline, Klooster, Jan, Kamermans, Maarten, Wortel, Joke, Loos, Maarten, Wisse, Lisanne E., Scheper, Gert C., Abbink, Truus E. M., Heine, Vivi M., van der Knaap, Marjo S.

Publikováno v: Journal of Clinical Investigation, 1512-1524. The American Society for Clinical Investigation
ISSUE=126;STARTPAGE=1512;ENDPAGE=1524;ISSN=0021-9738;TITLE=Journal of Clinical Investigation
Journal of Clinical Investigation, 126(4), 1512-24. The American Society for Clinical Investigation
Journal of clinical investigation, 126(4), 1512-1524. The American Society for Clinical Investigation
Dooves, S, Bugiani, M, Postma, N L, Polder, E, Land, N, Horan, S T, van Deijk, A L F, van de Kreeke, A, Jacobs, J G, Vuong, C, Klooster, J, Kamermans, M, Wortel, J, Loos, M, Wisse, L E, Scheper, G C, Abbink, G E M, Heine, V M & Knaap, M 2016, ' Astrocytes are central in the pathomechanisms of vanishing white matter ', Journal of Clinical Investigation, no. 126, 4, pp. 1512-1524 . https://doi.org/10.1172/JCI83908
Dooves, S, Bugiani, M, Postma, N L, Polder, E, Land, N, Horan, S T, van Deijk, A-L F, van de Kreeke, A, Jacobs, G, Jacobs, G, Vuong, C, Klooster, J, Kamermans, M, Wortel, J, Loos, M, Wisse, L E, Scheper, G C, Abbink, T E M, Heine, V M & van der Knaap, M S 2016, ' Astrocytes are central in the pathomechanisms of vanishing white matter ', Journal of Clinical Investigation, vol. 126, no. 4, pp. 1512-1524 . https://doi.org/10.1172/JCI83908
Journal of Clinical Investigation, 126(4), 1512-1524. The American Society for Clinical Investigation

Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes encoding subunits of eukaryotic translation initiation factor 2B (eIF2B). Disease onset and severity are codetermined by genotype. White matter astrocytes and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::394a1c7d2dca7a643df9f1b67338d999
https://research.vu.nl/en/publications/0aed7403-5a46-47a6-9f77-d1787b2ad303

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Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle

Publikováno v: Dubey, M, Bugiani, M, Ridder, M C, Postma, N L, Brouwers, E, Polder, E, Jacobs, J G, Baaijen, J C, Klooster, J, Kamermans, M, Aardse, R, de Kock, C P J, Dekker, M P, van Weering, J R T, Heine, V M, Abbink, T E M, Scheper, G C, Boor, P K I, Lodder, J C, Mansvelder, H D & Knaap, M 2015, ' Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle ', Annals of Neurology, vol. 77, no. 11, pp. 114-131 . https://doi.org/10.1002/ana.24307
Annals of Neurology, 77(1), 114-31. John Wiley and Sons Inc.
Annals of Neurology, 77(11), 114-131. John Wiley and Sons Inc.
Annals of neurology, 77(1), 114-131. John Wiley and Sons Inc.

Objective: Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic disease characterized by infantile onset white matter edema and delayed onset neurological deterioration. Loss of MLC1 function causes MLC. MLC1 is involved in ion-water hom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::63b5eaea153bd0f0de749b918aa88e1c
https://research.vu.nl/en/publications/7acabace-5a3c-4113-83de-aad5a3ea0bdd

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