Ben Distel
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 28 publications
Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.
Journal: Journal of neurodevelopmental disorders
Published: September 16, 2025
Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
Journal: Human molecular genetics
Published: February 05, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 10, 2023
UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation.
Journal: Nature communications
Published: September 15, 2023
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.
Journal: International journal of molecular sciences
Published: November 18, 2022
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
Journal: Human genetics
Published: January 06, 2022
A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.
Journal: Molecular psychiatry
Published: August 16, 2021
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
Journal: Human molecular genetics
Published: January 13, 2021
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Journal: Cell reports. Medicine
Published: June 28, 2020
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
Journal: Human molecular genetics
Published: June 25, 2020
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
Journal: Scientific reports
Published: May 04, 2020
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.
Journal: Molecular genetics & genomic medicine
Published: January 29, 2020
Last Updated: 09/26/2026