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So far Virginia Pizzaferri has created 4 blog entries.

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

2019-09-27T15:01:55+02:0016 September , 2019|

The Fizzy-related protein1(Fzr1) gene encodes Cdh1protein, 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 mouse. To ascertain the possible translation of these findings in humans, we searched for mutations in [...]

ITACA Research Project

2019-06-14T14:59:38+02:0013 June , 2019|

The ITACA (Investigación Traslacional de Arritmias Cardiacas Hereditarias / Hereditary Cardiac Arrhythmias Translational Research) Research Project, funded by the Madrid Regional Government (B2017/BMS-3738), is coordinated by the cellular cardiac electrophysiology group of the Complutense University of Madrid Medical School. ITACA includes clinical researchers from the Cardiology Department of La Paz, Puerta de Hierro, Gregorio Marañón, [...]