Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

Autor: Anna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, Margreet C. Ridder, Marisol Montolio, Tania López-Hernández, Ilja Boor, Chun-Fu Lien, Tracy Hagemann, Albee Messing, Dariusz C. Gorecki, Gert C. Scheper, Albert Martínez, Virginia Nunes, Marjo S. van der Knaap, Raúl Estévez

Publikováno v: Neurobiology of Disease, Vol 43, Iss 1, Pp 228-238 (2011)

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy, in the majority of cases caused by mutations in the MLC1 gene. MRI from MLC patients shows diffuse cerebral white matter signal abnormality and swellin

Externí odkaz: https://doaj.org/article/ab7e770a271145778d5dd3d5e8bc9908

Meaningful Assessment in Interdisciplinary Education

Autor: Ilja Boor, Debby Gerritsen, Linda Greef, Jessica Rodermans

Today’s university lecturers are faced with the challenge of educating students to see beyond the limits of their own discipline and to come up with innovative solutions to societal challenges. Many lecturers would like to put more emphasis on teac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b857e619532d215269db9e4cd509adb1
https://doi.org/10.5117/9789463729048

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

Autor: Raúl Estévez, Ilja Boor, Marjo S. van der Knaap

Publikováno v: Lancet Neurology, 11(11), 973-985. Lancet Publishing Group
van der Knaap, M S, Boor, P K I & Estevez, R 2012, ' Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis ', Lancet Neurology, vol. 11, no. 11, pp. 973-985 . https://doi.org/10.1016/S1474-4422(12)70192-8

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterised by chronic white matter oedema. The disease has an infantile onset and leads to slow neurological deterioration in most cases, but, surprisingly, some patients recover.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3ae58b24ab4448aa8ae7ba55b22f6e
https://doi.org/10.1016/s1474-4422(12)70192-8

MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet

Autor: Kevin E. Bove, Ignacio Pascual-Castroviejo, Machiel M. Nagtegaal, Ilja Boor, Raúl Estévez, Paul van der Valk, Francesco Muntoni, A. Dinopoulos, Marjo S. van der Knaap, Gert C. Scheper, Wouter Kamphorst, Jack van Horssen, Jan C. Pronk

Publikováno v: Acta Neuropathologica
Acta neuropathologica, 114(4), 403-410. Springer Verlag
Boor, I, Nagtegaal, M, Kamphorst, W, van der Valk, P, Pronk, J C, van Horssen, J, Dinopoulos, A, Bove, K E, Pascual-Castroviejo, I, Muntoni, F, Estévez, R, Scheper, G C & van der Knaap, M S 2007, ' MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet ', Acta Neuropathologica, vol. 114, no. 4, pp. 403-10 . https://doi.org/10.1007/s00401-007-0247-0
Acta Neuropathologica, 114(4), 403-10. Springer Verlag

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease with onset in childhood, caused by mutations in the MLC1 gene. MLC1 is a protein with unknown function that is mainly expressed in the bra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab21b4f3c77cc230c9324397c582148
http://europepmc.org/articles/PMC2039857

MLC1: a novel protein in distal astroglial processes

Autor: Marjo S. van der Knaap, Cees B.M. Oudejans, Gert C. Scheper, Wouter Kamphorst, Koen de Groot, Quinten Waisfisz, James M. Powers, P. K. Ilja Boor, Jan C. Pronk

Publikováno v: Journal of Neuropathology and Experimental Neurology, 64(5), 412-419. OUP
Boor, PKI, de Groot, K, Waisfisz, Q, Kamphorst, W, Oudejans, CBM, Powers, JM, Pronk, JC, Scheper, GC & van der Knaap, MS 2005, ' MLC1: A novel protein in distal astroglial processes ', Journal of Neuropathology and Experimental Neurology, vol. 64, no. 5, pp. 412-419 .
Journal of Neuropathology and Experimental Neurology, 64(5), 412-419. Lippincott Williams and Wilkins
Boor, P K I, de Groot, K, Waisfisz, Q, Kamphorst, W, Oudejans, C B M, Powers, J M, Pronk, J C, Scheper, G C & van der Knaap, M S 2005, ' MLC1: a novel protein in distal astroglial processes ', Journal of Neuropathology and Experimental Neurology, vol. 64, no. 5, pp. 412-419 .

Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease in children caused by mutations in the MLC1 gene. This disease is histopathologically characterized by myelin splitting and intramyelinic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e37cbcb8165d2453eb1c268e192b2c4
https://hdl.handle.net/1871.1/6ddc0d6a-30ac-4095-960c-d179310d6f3c