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
Supplementary data for paper published in Communications Biology titled "Sex disparate gut microbiome and metabolome perturbations precede disease progression in a mouse model of Rett syndrome." Abs
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
