Ben Distel

Affiliations

Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

ORCID: 0000-0002-3046-205X

Publications (5)

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.

Molecular genetics & genomic medicine

Avec: Amber Geerts-Haages , Stijn N V Bossuyt , Inge den Besten , Hennie Bruggenwirth , Ineke van der Burgt , Helger G Yntema , A Mattijs Punt , Alice Brooks , Ype Elgersma , Marlies Valstar

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

Human molecular genetics

Avec: Stijn N V Bossuyt , A Mattijs Punt , Ilona J de Graaf , Janny van den Burg , Mark G Williams , Helen Heussler , Ype Elgersma ,

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

Human molecular genetics

Avec: F Isabella Zampeta , Monica Sonzogni , Eva Niggl , Bas Lendemeijer , Hilde Smeenk , Femke M S de Vrij , Steven A Kushner , Ype Elgersma

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

Cell reports. Medicine

Avec: Nikhil J Pandya , Congwei Wang , Veronica Costa , Paul Lopatta , Sonja Meier , F Isabella Zampeta , A Mattijs Punt , Edwin Mientjes , Philip Grossen , Tania Distler , Manuel Tzouros , Yasmina Martí , Balazs Banfai , Christoph Patsch , Soren Rasmussen , Marius Hoener , Marco Berrera , Thomas Kremer , Tom Dunkley , Martin Ebeling , Ype Elgersma , Ravi Jagasia

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

Scientific reports

Avec: 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 ,

Réseau de co-auteurs

Ype Elgersma 5 collaborations

A Mattijs Punt 4 collaborations

F Isabella Zampeta 3 collaborations

Stijn N V Bossuyt 2 collaborations

Ilona J de Graaf 2 collaborations

Edwin Mientjes 2 collaborations

Amber Geerts-Haages 1 collaboration

Inge den Besten 1 collaboration

Hennie Bruggenwirth 1 collaboration

Ineke van der Burgt 1 collaboration

Helger G Yntema 1 collaboration

Alice Brooks 1 collaboration

Marlies Valstar 1 collaboration

Janny van den Burg 1 collaboration

Mark G Williams 1 collaboration

Helen Heussler 1 collaboration

Monica Sonzogni 1 collaboration

Eva Niggl 1 collaboration

Bas Lendemeijer 1 collaboration

Hilde Smeenk 1 collaboration

Femke M S de Vrij 1 collaboration

Steven A Kushner 1 collaboration

Nikhil J Pandya 1 collaboration

Congwei Wang 1 collaboration

Veronica Costa 1 collaboration

Paul Lopatta 1 collaboration

Sonja Meier 1 collaboration

Philip Grossen 1 collaboration

Tania Distler 1 collaboration

Manuel Tzouros 1 collaboration

Yasmina Martí 1 collaboration

Balazs Banfai 1 collaboration

Christoph Patsch 1 collaboration

Soren Rasmussen 1 collaboration

Marius Hoener 1 collaboration

Marco Berrera 1 collaboration

Thomas Kremer 1 collaboration

Tom Dunkley 1 collaboration

Martin Ebeling 1 collaboration

Ravi Jagasia 1 collaboration

Rossella Avagliano Trezza 1 collaboration

Marlene van den Berg 1 collaboration

Yana van der Weegen 1 collaboration

Jeroen A A Demmers 1 collaboration