Cystatin B (CSTB) is a ubiquitous protein belonging to a superfamily of protease inhibitors. CSTB may play a critical role in brain physiology because its mutations cause progressive myoclonic epileps
Patients with mutations in the thyroid hormone (TH) cell transporter MCT8 gene develop severe neuropsychomotor retardation known as the Allan-Herndon-Dudley syndrome (AHDS). It is assumed that this is
Proper cortical development relies on the balance of neuronal migration and proliferation. We investigated the gene expression differences of mouse knock-outs for Lissencephaly in humans. Our analysis
Noonan syndrome (NS) is a genetic disorder mainly caused by gain-of-function mutations of SHP2. Although diverse neurological manifestations are commonly diagnosed in NS patients, mechanisms on how th
A recurrent de novo mutation in the transcriptional corepressor CTBP1 is associated with neurodevelopmental disabilities in children (Beck et al., 2016; Beck et al., 2019; Sommerville et al., 2017).
