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

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...

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Detalles Bibliográficos
Autores principales: Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
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HIGHLIGHTED ARTICLE
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851713/
https://www.ncbi.nlm.nih.gov/pubmed/31318984
http://dx.doi.org/10.1111/jnc.14828

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