Ben Distel - Dissemin

Language
Login

All papers authored by Ben Distel

This paper was not found in any repository, but could be made available legally by the author.

2021 Nikhil J. Pandya

ORCID

, Congwei Wang, Veronica Costa

ORCID

ORCID

ORCID

, F. Isabella Zampeta, A. Mattijs Punt

ORCID

, Edwin Mientjes, Philip Grossen, Tania Distler

ORCID

, Manuel Tzouros

ORCID

, Yasmina Martí, Balazs Banfai

ORCID

, Christoph Patsch, Soren Rasmussen and 8 other authors

Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

Upload

This paper was not found in any repository, but could be made available legally by the author.

Stijn N. V. Bossuyt

ORCID

, A. Mattijs Punt

ORCID

, Ilona J. de Graaf, Janny van den Burg, Mark G. Williams

ORCID

, Helen Heussler, Ype Elgersma

ORCID

, Ben Distel

ORCID

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

Upload

This paper is made freely available by the publisher.

Rossella Avagliano Trezza

ORCID

, Rossella Avagliano Trezza, A. Mattijs Punt, A. Mattijs Punt

ORCID

, Edwin Mientjes, Marlene van den Berg, F. Isabella Zampeta, F. Isabella Zampeta

ORCID

, Ilona J. de Graaf, Yana van der Weegen, Jeroen A. A. Demmers, Ype Elgersma

ORCID

, Ben Distel

ORCID

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

Download from doi.org

This paper is made freely available by the publisher.

2020 Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge Besten, Hennie Bruggenwirth, Ineke Burgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel

ORCID

, Marlies Valstar

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

Download from doi.org

This paper was not found in any repository, but could be made available legally by the author.

Isabella F. Zampeta, F. Isabella Zampeta, Monica Sonzogni, Eva Niggl, Bas Lendemeijer, Hilde Smeenk, Femke M. S. de Vrij, Steven A. Kushner, Ben Distel

ORCID

, Ype Elgersma

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

Upload

This paper was not found in any repository, but could be made available legally by the author.

2019 Rossella Avagliano Trezza, Monica Sonzogni

ORCID

, Stijn N. V. Bossuyt

ORCID

, F. Isabella Zampeta, A. Mattijs Punt

ORCID

, Marlene van den Berg, Diana C. Rotaru

ORCID

, Linda M. C. Koene, Shashini T. Munshi, Jeffrey Stedehouder, Johan M. Kros, Mark Williams

ORCID

, Helen Heussler, Femke M. S. de Vrij

ORCID

, Edwin J. Mientjes and 4 other authors

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

Upload

Missing publications? Search for publications with a matching author name.