L’ inattivazione di una delle due copie (aploinsufficienza) del gene PRR12 e’ stata recentemente individuata come la causa di specifici disturbi del neurosviluppo. Questo progetto si propone di individuare i meccanismi molecolari alterati nell’aploinsufficienza di PRR12 utilizzando zebrafish come sistema modello. 

Tipo: Nazionale

Durata: 01.11.2022 - 30.10.2024

ENGLISH VERSION

Title: Dissecting the pathomolecular mechanisms of Prr12 gene inactivation leading to neurodevelopmental and eye abnormalities.

Recently, inactivation of a single copy (haploinsufficiency) of the PRR12 gene has been recognized as the cause of specific neurodevelopmental defects. This project aims at investigating the molecular mechanisms underlying the neuropathogenic effects of PRR12 haploinsufficiency using zebrafish as a model system

Type: National

Period: 01.11.2022 - 30.10.2024