Article
Trabid patient mutations impede the axonal trafficking of adenomatous polyposis coli to disrupt neurite growth.
eLife - 15 Dec 2023
Frank Daniel, Bergamasco Maria, Mlodzianoski Michael J, Kueh Andrew, Tsui Ellen, Hall Cathrine, Kastrappis Georgios, Voss Anne Kathrin, McLean Catriona, Faux Maree, Rogers Kelly L, Tran Bang, Vincan Elizabeth, Komander David, Dewson Grant, Tran Hoanh
Abstract excerpt
ZRANB1 (human Trabid) missense mutations have been identified in children diagnosed with a range of congenital disorders including reduced brain size, but how Trabid regulates neurodevelopment is not understood. We have characterized these patient mutations in cells and mice to identify a key role for Trabid in the regulation of neurite growth. One of the patient mutations flanked the catalytic cysteine of Trabid...
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