P035: Characterizing the role of FBXO11 and ubiquitination and proteasomal degradation in intellectual disability
FAU own research funding: EFI / IZKF / EAM ...
Start date : 07.01.2019
End date : 06.01.2020
Project details
Scientific Abstract
Recently we identified de novo variants in FBXO11, encoding a subunit of an E3-ubiquitin ligase complex, as causative for a neurodevelopmental disorder (NDD). The goal of this grant is to characterize the role of FBXO11 in NDDs. With the model organism Drosophila melanogaster anatomical studies of synapses and behavioral assays will be performed. Additionally effects of patient mutations will be tested in cell-based assays and target proteins of FBXO11 will be identified using AP-MS.
Involved:
Contributing FAU Organisations:
Interdisziplinäres Zentrum für Klinische Forschung (IZKF)
Lehrstuhl für Humangenetik
Medizinische Fakultät
