A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Autor: Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge denBesten, Hennie Bruggenwirth, Ineke van derBurgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)

Abstract Background Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a c

Externí odkaz: https://doaj.org/article/951f87a1100f45729e7e69dffa69cd7c

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Autor: Helger G. Yntema, Amber Geerts-Haages, Stijn N V Bossuyt, Ype Elgersma, A. Mattijs Punt, Hennie T. Brüggenwirth, Alice S. Brooks, Marlies J. Valstar, Inge den Besten, Ben Distel, Ineke van der Burgt

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, 8
Molecular genetics and genomic medicine, 8(11):e1481. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine, 8, 11
Molecular Genetics and Genomic Medicine, 8(11):e1481

Background Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a characteri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d986c6f9388eda6600fb52b362d90fc2
https://hdl.handle.net/2066/229329

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