A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

• Published in: Journal of neurochemistry Vol. 151; no. 1; pp. 103 - 115
• Main Authors: Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.10.2019; John Wiley and Sons Inc
• Subjects: Ablation; Anaphase; Anaphase-promoting complex; Cdh1; Cell culture; Cell cycle; Cell death; E-cadherin; Ectopic expression; Enlargement; Epilepsy; Fzr1; HIGHLIGHTED ARTICLE; Intellectual disabilities; Kidneys; Leukocytes; Microcephaly; Microencephaly; Mutation; Neural stem cells; Neurodevelopmental disorders; Neurogenesis; Original; Point mutation; Progenitor cells; Proteins; Psychomotor performance; psychomotor retardation; Ubiquitin; Ubiquitin-protein ligase; microcephaly; mutation; psychomotor retardation; Fzr1; Cdh1

The Fizzy‐related protein 1 (Fzr1) gene encodes Cdh1 protein, a coactivator of the E3 ubiquitin ligase anaphase‐promoting complex/cyclosome (APC/C). Previously, we found that genetic ablation of Fzr1 promotes the death of neural progenitor cells leading to neurogenesis impairment and microcephaly in...