A Mattijs Punt

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 3

Top Topics

Pseudomonas Aeruginosa

Spinal Cord Injury

Intellectual Disability

Top Venues

Scientific reports

Human molecular genetics

Nature neuroscience

This page only lists publications with an associated author ORCID identifier.

Publications

Stijn N V Bossuyt, A Mattijs Punt, Ilona J de Graaf, Janny van den Burg, Mark G Williams, Helen Heussler, Ype Elgersma, Ben Distel
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Human molecular genetics 30 (6) (2022)
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, Ben Distel
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function. Scientific reports 11 (1) (2021)
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 G Williams, Helen Heussler, Femke M S de Vrij, Edwin J Mientjes, Geeske M van Woerden, Steven A Kushner, Ben Distel, Ype Elgersma
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome. Nature neuroscience 22 (8) (2019)