Missing IER3IP1 protein leads to severe brain developmental disease

A study by the Kaether research group at the Leibniz Institute on Aging – Fritz Lipmann Institute (FLI) in Jena sheds light on the molecular mechanisms of a rare and usually fatal hereditary disease called MEDS1. The study entitled „IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport“, now published in the open access journal „Cellular and Molecular Life Sciences“, show for the first time that the absence of IER3IP1 or its mutation causes defective transport of certain proteins that are essential for the development and survival of nerve cells.

Quelle: IDW Informationsdienst Wissenschaft