Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function

Autor: Rossella Avagliano Trezza, A. Mattijs Punt, Edwin Mientjes, Marlene van den Berg, F. Isabella Zampeta, Ilona J. de Graaf, Yana van der Weegen, Jeroen A. A. Demmers, Ype Elgersma, Ben Distel

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

Abstract Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by brain-specific loss of UBE3A, an E3 ubiquitin protein ligase. A substantial number of possible ubiquitination targets of UBE3A have been identified, although evidence o

Externí odkaz: https://doaj.org/article/103b8ab37f3849878bac0c65b929ee9d

The MARCH6-SQLE Axis Controls Endothelial Cholesterol Homeostasis and Angiogenic Sprouting

Autor: Josephine Mathilde Elisabeth Tan, Miesje Maxime van der Stoel, Marlene van den Berg, Nienke Marlies van Loon, Martina Moeton, Edwin Scholl, Nicole Neeltje van der Wel, Igor Kovačević, Peter Lodewijk Hordijk, Anke Loregger, Stephan Huveneers, Noam Zelcer

Publikováno v: Cell Reports, Vol 32, Iss 5, Pp 107944- (2020)

Summary: The endothelial monolayer forms a barrier between the lumen of blood vessels and the underlying tissues. Stable VE-cadherin-based adherens junctions are essential for maintaining this barrier, whereas their remodeling is required for angioge

Externí odkaz: https://doaj.org/article/d956f3cfee4f47078c64a2d549743b71

The MARCH6-SQLE Axis Controls Endothelial Cholesterol Homeostasis and Angiogenic Sprouting

Autor: Marlene van den Berg, Noam Zelcer, Nicole N. van der Wel, Igor Kovacevic, Josephine M. E. Tan, Edwin R. Scholl, Peter L. Hordijk, Miesje M. van der Stoel, Anke Loregger, Stephan Huveneers, Nienke M. van Loon, Martina Moeton

Publikováno v: Cell Reports, Vol 32, Iss 5, Pp 107944-(2020)
Tan, J M E, van der Stoel, M M, van den Berg, M, van Loon, N M, Moeton, M, Scholl, E, van der Wel, N N, Kovačević, I, Hordijk, P L, Loregger, A, Huveneers, S & Zelcer, N 2020, ' The MARCH6-SQLE Axis Controls Endothelial Cholesterol Homeostasis and Angiogenic Sprouting ', Cell Reports, vol. 32, no. 5, 107944 . https://doi.org/10.1016/j.celrep.2020.107944
Cell reports, 32(5):107944. Cell Press
Cell Reports, 32(5):107944. Cell Press

Summary: The endothelial monolayer forms a barrier between the lumen of blood vessels and the underlying tissues. Stable VE-cadherin-based adherens junctions are essential for maintaining this barrier, whereas their remodeling is required for angioge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b153f9e3a4d72b42183bbed7ea45d7bd
http://www.sciencedirect.com/science/article/pii/S2211124720309256

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

Autor: Linda M. C. Koene, Helen Heussler, Edwin Mientjes, Shashini T. Munshi, Femke M.S. de Vrij, Marlene van den Berg, A. Mattijs Punt, Geeske M. van Woerden, Steven A. Kushner, Diana C. Rotaru, Monica Sonzogni, Ype Elgersma, F. Isabella Zampeta, Rossella Avagliano Trezza, Stijn N V Bossuyt, Mark Williams, Jeffrey Stedehouder, Johan M. Kros, Ben Distel

Publikováno v: Nature Neuroscience, 22(8), 1235-+. Nature Publishing Group
Nature neuroscience, 22(8), 1235-1247. Nature Publishing Group

Mutations affecting the gene encoding the ubiquitin ligase UBE3A cause Angelman syndrome. Although most studies focus on the synaptic function of UBE3A, we show that UBE3A is highly enriched in the nucleus of mouse and human neurons. We found that th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f92dd77d3397c167cc98539f8243ef5
https://doi.org/10.1038/s41593-019-0425-0

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

Autor: Johanna E. Hakonen, Marit B. de Wissel, Marian A. J. Weterman, Boris Bleijlevens, Ben Distel, Vincenzo Sorrentino, Marlene van den Berg, Rossella Avagliano Trezza, Fred van Ruissen, Noam Zelcer, Frank Baas

Publikováno v: Human Molecular Genetics, 26(11), 2034-2041. Oxford University Press
Human molecular genetics, 26(11), 2034-2041. Oxford University Press

Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02dc6cffe1b8a130c47318df138695c
https://pure.eur.nl/en/publications/56cdcf31-140e-424f-9cd4-d6927b3d246e