Ontology highlight
ABSTRACT:
SUBMITTER: Marcogliese PC
PROVIDER: S-EPMC8769555 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Marcogliese Paul C PC Dutta Debdeep D Ray Shrestha Sinha SS Dang Nghi D P NDP Zuo Zhongyuan Z Wang Yuchun Y Lu Di D Fazal Fatima F Ravenscroft Thomas A TA Chung Hyunglok H Kanca Oguz O Wan JiJun J Douine Emilie D ED Network Undiagnosed Diseases UD Pena Loren D M LDM Yamamoto Shinya S Nelson Stanley F SF Might Matthew M Meyer Kathrin C KC Yeo Nan Cher NC Bellen Hugo J HJ
Science advances 20220119 3
De novo truncations in <i>Interferon Regulatory Factor 2 Binding Protein Like</i> (<i>IRF2BPL</i>) lead to severe childhood-onset neurodegenerative disorders. To determine how loss of <i>IRF2BPL</i> causes neural dysfunction, we examined its function in <i>Drosophila</i> and zebrafish. Overexpression of either <i>IRF2BPL</i> or <i>Pits</i>, the <i>Drosophila</i> ortholog, represses Wnt transcription in flies. In contrast, neuronal depletion of Pits leads to increased <i>wingless</i> (<i>wg</i>) ...[more]