Human Neurons

Retinoic Acid Signaling is Blocked by Fragile X Mutation

August 10, 2018

With a 2013-2014 FRAXA Research Grant, Principal Investigator Marius Wernig, PhD and FRAXA Fellow Samuele Marro, PhD at Stanford University found that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling. Retinoic acid is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.

Read More »

Synaptic Characterization of Human Fragile X Neurons

September 12, 2014

Stanford scientists used human stem-cell–derived neurons to show that retinoic acid signaling is blocked by Fragile X, revealing a new pathway to target for treatment.

Read More »

Categories

FRAXA Funded Research

Current Research Grants (38)