Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome

Autor: Monica Sonzogni, Peipei Zhai, Edwin J. Mientjes, Geeske M. van Woerden, Ype Elgersma

Publikováno v: Molecular Autism, Vol 11, Iss 1, Pp 1-12 (2020)

Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of functional ubiquitin protein ligase E3A (UBE3A). In neurons, UBE3A expression is tightly regulated by a mechanism of imprinting which suppresses th

Externí odkaz: https://doaj.org/article/b539d1fa5dfd432a9e8a6071f4abe41b

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants

Autor: Monica Sonzogni, Ilse Wallaard, Sara Silva Santos, Jenina Kingma, Dorine du Mee, Geeske M. van Woerden, Ype Elgersma

Publikováno v: Molecular Autism, Vol 9, Iss 1, Pp 1-19 (2018)

Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder caused by mutations affecting UBE3A function. AS is characterized by intellectual disability, impaired motor coordination, epilepsy, and behavioral abnormalities including au

Externí odkaz: https://doaj.org/article/47ddba8f847a4d07bb0e7241bd603d15

Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms

Autor: Ben Distel, Ype Elgersma, Hilde Smeenk, Monica Sonzogni, F. Isabella Zampeta, Bas Lendemeijer, Femke de Vrij, Steven A. Kushner, Eva Niggl

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 29(18), 3032-3043. Oxford University Press
Human molecular genetics, 29(18), 3032-3043. Oxford University Press

The human UBE3A gene, which is essential for normal neurodevelopment, encodes three Ubiquitin E3 ligase A (UBE3A) protein isoforms. However, the subcellular localization and relative abundance of these human UBE3A isoforms are unknown. We found, as p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a406e457dbd067017e5deefbfff6474
http://www.scopus.com/inward/record.url?scp=85095861858&partnerID=8YFLogxK

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Autor: Johanna Hakonen, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Mireia Bernabé Kleijn, Geeske M. van Woerden, Ype Elgersma, Monica Sonzogni

Publikováno v: Molecular Autism, 10:23. BioMed Central Ltd.
Molecular Autism, Vol 10, Iss 1, Pp 1-9 (2019)
Molecular Autism

Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene exp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ab48dcfdef5b4330a3df2d5dbf858c
https://pure.eur.nl/en/publications/06f190a1-2056-4279-878b-d91f8233d757

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

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

Publikováno v: Nature neuroscience. 22(8)

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=pmid________::eb3e5ddef64686f72a3f404d7c534333
https://pubmed.ncbi.nlm.nih.gov/31235931