Topic: Single nucleus RNA Sequencing

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

Celastrol, a triterpene derived from the thunder god vine (Tripterygium wilfordii), has shown promising efficacy in preclinical models for the treatment of metabolic disorders such as obesity and diabetes. The compound has anti-inflammatory properties and has been shown to improve insulin sensitivity and lipid metabolism. Its weight loss properties are attributed to an improvement in leptin sensitivity, most likely by targeting neural circuits in the hypothalamus that control food intake and appetite. Despite extensive research, the precise mechanism of action remains elusive. In this study, w

Developmental and Epileptic Encephalopathy 9 (DEE9) is a debilitating neurological condition with no effective cure characterized by epilepsy, intellectual disability and autism. DEE9 is due to mutations in the X-chromosome gene PCDH19 that encodes protocadherin-19 (PCDH19), a cell adhesion molecule. We recently reported that PCDH19 undergoes an activity-dependent proteolytic cleavage that generates a cytosolic C-terminal fragment (CTF), which goes in the nucleus and regulates the expression of a subset of immediate early genes in primary hippocampal neurons.The aim of this project is to inves