Work

Cdh1 Asp187gly Mutation Impairs Apc/c Activity Leading to Pfkfb3 Stabilization

Year: 2023

Type: article

Abstract: The Fizzy-related protein 1 (Fzr1) gene encodes the coactivator of the E3 ubiquitin ligase Anaphase Promoting Complex/Cyclosome (APC/C), Cdh1, which regulates mitotic and non-mitotic functions. In addition to cell cycle regulation, APC/C-Cdh1 plays a key role in neuronal survival and neurogenesis during brain development. Recently, we described that APC/C-Cdh1 loss of function caused by a novel human mutation (p.Asp187Gly) in the Fzr1 gene (c.560A>G) results in a new cause of prenatal microcephaly.

Source: IBRO Neuroscience Reports

DOI: 10.1016/j.ibneur.2023.08.170

Authors: Leticia Sancha, Irene Sánchez-Morán, Ángeles Almeida Parra, Juan P. Bolanos

Institutions: Instituto de Investigación Biomédica de Salamanca, Instituto de Biología Funcional y Genómica

Language: English

Topic: Microtubule and mitosis dynamics

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,500