Rossella Avagliano Trezza

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

Rossella Avagliano Trezza, Monica Sonzogni, Stijn N. V. Bossuyt et al. · Nature Neuroscience · 2019 · 98 citations

Molecular Neuroscience, Neurobiology Of Disease, Neurophysiology +8

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink et al. · Human Mutation · 2021 · 63 citations · Full text

Brain Development, Developmental Cognitive Neuroscience, Neurodevelopment +23

The Deubiquitylase USP2 Regulates the LDLR Pathway by Counteracting the E3-Ubiquitin Ligase IDOL

Jessica K. Nelson, Vincenzo Sorrentino, Rossella Avagliano Trezza et al. · Circulation Research · 2015 · 47 citations

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot–Marie–Tooth disease 2P

Johanna E. Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza et al. · Human Molecular Genetics · 2017 · 15 citations · Full text

Full Lrsam1, Mendelian Disorder, Genetic Disorder +15

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

Rossella Avagliano Trezza, A. Mattijs Punt, Edwin Mientjes et al. · Scientific Reports · 2021 · 14 citations · Full text