Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

Autor: Anatoly Korotkov, Mark J. Luinenburg, Alessia Romagnolo, Till S. Zimmer, Jackelien van Scheppingen, Anika Bongaarts, Diede W. M. Broekaart, Jasper J. Anink, Caroline Mijnsbergen, Floor E. Jansen, Wim van Hecke, Wim G. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Peter B. Crino, Katarzyna Kotulska, Lieven Lagae, Anna C. Jansen, David J. Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Angelika Mühlebner, Erwin A. van Vliet, James D. Mills, Eleonora Aronica

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-16 (2022)

Abstract Background The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment.

Externí odkaz: https://doaj.org/article/9e33560efb00425a8bb93db1a513ea16

MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

Autor: Josef Zamecnik, Anatoly Korotkov, Martha Feucht, Mark J. Luinenburg, Wim Van Hecke, Jeong H Lee, Caroline Mijnsbergen, Lieven Lagae, Till S. Zimmer, Wim G.M. Spliet, Floor E. Jansen, Katarzyna Kotulska, Jackelien van Scheppingen, Paolo Curatolo, Jasper J. Anink, Nam Suk Sim, Angelika Mühlebner, Pavel Krsek, Johannes A. Hainfellner, Sergiusz Jozwiak, Peter C. van Rijen, Erwin A. van Vliet, Diede W. M. Broekaart, David J. Kwiatkowski, Peter B. Crino, Anna Jansen, Eleonora Aronica, Anika Bongaarts, James D. Mills

Publikováno v: Neuropathology and Applied Neurobiology
Neuropathology and Applied Neurobiology, 47, 796-811. Wiley-Blackwell
Neuropathology and Applied Neurobiology, 47(6), 796-811. Wiley-Blackwell
Neuropathology and applied neurobiology, 47(6), 796-811. Wiley-Blackwell

Aims Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to cortical tu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb0f7241374fa2ea6880a3964dbd171
https://dare.uva.nl/personal/pure/en/publications/microrna34a-activation-in-tuberous-sclerosis-complex-during-early-brain-development-may-lead-to-impaired-corticogenesis(54e41bc9-19fa-4850-90b0-8be834807835).html

Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

Autor: Wiesława Grajkowska, Roland Coras, Wilfred F. A. den Dunnen, Anika Bongaarts, Theresa Scholl, Sergiusz Jozwiak, Brendon P. Scicluna, Antoinette Y N Schouten-van Meeteren, José Pimentel, Figen Soylemezoglu, Johannes A. Hainfellner, Eleonora Aronica, Jasper J. Anink, Wim G.M. Spliet, David T.W. Jones, Anna Maria Buccoliero, Chiara Caporalini, Angelika Mühlebner, Ingmar Blümcke, James D. Mills, Victoria E Gruber, Martha Feucht, Caroline Mijnsbergen, Katarzyna Kotulska, Floor E. Jansen, Lorenzo Genitori, Werner Paulus, Flavio Giordano

Publikováno v: Cellular and molecular neurobiology. Springer New York
Cellular and Molecular Neurobiology
Cellular and molecular neurobiology, 42, 2863-2892. PLENUM PUBL CORP

Tuberous sclerosis complex (TSC) is a monogenic disorder caused by mutations in either the TSC1 or TSC2 gene, two key regulators of the mechanistic target of the rapamycin complex pathway. Phenotypically, this leads to growth and formation of hamarto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fa0c86e36d56fe639105b8fbe7ecea
https://pubmed.ncbi.nlm.nih.gov/34709498

Rapidly progressive amyotrophic lateral sclerosis is associated with microglial reactivity and small heat shock protein expression in reactive astrocytes

Autor: Jasper J. Anink, Jeroen A.M. Beliën, Jodie Stephenson, J. C. de Jonge, Rianne P. Gorter, Wia Baron, Caroline Mijnsbergen, Erik Nutma, M. C. Jahreiβ, Eleonora Aronica, J M van Noort, Sandra Amor

Publikováno v: Neuropathology and applied neurobiology, 45(5), 459-475. Wiley-Blackwell
Neuropathology and Applied Neurobiology, 45(5), 459-475. Wiley-Blackwell
Neuropathology and Applied Neurobiology
Gorter, R P, Stephenson, J, Nutma, E, Anink, J, de Jonge, J C, Baron, W, Jahreiβ, M C, Belien, J A M, van Noort, J M, Mijnsbergen, C, Aronica, E & Amor, S 2019, ' Rapidly progressive amyotrophic lateral sclerosis is associated with microglial reactivity and small heat shock protein expression in reactive astrocytes ', Neuropathology and Applied Neurobiology, vol. 45, no. 5, pp. 459-475 . https://doi.org/10.1111/nan.12525
Neuropathology and Applied Neurobiology, 45(5), 459-475. WILEY-BLACKWELL

AIMS: Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative disease characterised by progressive loss of motor neurons, muscle weakness, spasticity, paralysis and death usually within 2-5 years of onset. Neuroinflammation is a hallmark o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b0bc859e6c1c9a2c107cb494773d07b
https://research.rug.nl/en/publications/a523de00-84bd-4ba4-b937-533f88897371

Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro

Autor: Wiesława Grajkowska, Johannes A. Hainfellner, Julita Borkowska, Wim G.M. Spliet, Floor E. Jansen, Angelika Mühlebner, Anika Bongaarts, Caroline Mijnsbergen, Lorenzo Genitori, Jackelien van Scheppingen, Chiara Caporalini, Katarzyna Kotulska, Jasper J. Anink, Theresa Scholl, Sergiusz Jozwiak, Jody M de Jong, Flavio Giordano, Diede W. M. Broekaart, Brendon P. Scicluna, Erwin A. van Vliet, Martha Feucht, Eleonora Aronica, Antoinette Y. N. Schouten-van Meeteren, Anna Maria Buccoliero, James D. Mills, Victoria E Gruber, Wilfred F. A. den Dunnen

Publikováno v: Journal of neuropathology and experimental neurology, 79(7):nlaa040, 777-790. Oxford University Press
Journal of Neuropathology and Experimental Neurology
Journal of Neuropathology and Experimental Neurology, 79(7), 777-790. Lippincott Williams & Wilkins
Journal of neuropathology and experimental neurology, 79(7), 777-790. Lippincott Williams and Wilkins

Tuberous sclerosis complex (TSC), a rare genetic disorder caused by a mutation in the TSC1 or TSC2 gene, is characterized by the growth of hamartomas in several organs. This includes the growth of low-grade brain tumors, known as subependymal giant c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef56193138f86b69a1c19148b311f698
https://research.rug.nl/en/publications/ab4fabf9-637e-48d6-a410-5a0e0b600ec2