Allan-Herndon-Dudley syndrome – Uncovering disease mechanisms of MCT8-deficiency in the hypothyroid developing brain using snRNAseq
Anna Molenaar, Ekta Pathak, Gandhari Maity, Lisa Ständer, Dominik Luther, Sonja Schriever, Timo Müller, Paul Pfluger · FENS Forum 2024
The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked human disorder characterized by mutations in the MCT8 gene, critical for thyroid hormone (TH) transport across the blood-brain-barrier (BBB). Such central TH deprivation leads to intellectual disability and movement disorders.To understand disrupted processes and to refine future treatment strategies with TH analogs, we conduced single nucleus RNA sequencing studies in a mouse model engineered to replicate the central TH deficiency of AHDS, featuring a dual deletion of MCT8 and the mouse-specific T4 transporter OATP1C1. Bioinformatical an
ePoster · Neuroscience