Ben Distel - Dissemin

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All papers authored by Ben Distel

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2021 Nikhil J. Pandya

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, Congwei Wang, Veronica Costa

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, F. Isabella Zampeta, A. Mattijs Punt

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, Edwin Mientjes, Philip Grossen, Tania Distler

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, Manuel Tzouros

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, Yasmina Martí, Balazs Banfai

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, 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

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

Stijn N. V. Bossuyt

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, A. Mattijs Punt

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

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, Helen Heussler, Ype Elgersma

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, Ben Distel

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

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This paper is made freely available by the publisher.

Rossella Avagliano Trezza

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

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

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

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, Ben Distel

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

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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

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, 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

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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

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, Ype Elgersma

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

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

2019 Rossella Avagliano Trezza, Monica Sonzogni

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, Stijn N. V. Bossuyt

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, F. Isabella Zampeta, A. Mattijs Punt

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, Marlene van den Berg, Diana C. Rotaru

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

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, Helen Heussler, Femke M. S. de Vrij

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, Edwin J. Mientjes and 4 other authors

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

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