An iPSC-Derived Neuron Model of CLN3 Disease Facilitates Small Molecule Phenotypic Screening

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a family of rare lysosomal storage disorders. The most common form of NCL occurs in children harboring a mutation in the CLN3 gene. This form is lethal with no existing cure or treatment beyond symptomatic relief. The pathophysiology of CLN3 disease is complex and poorly understood, with current in vivo and in vitro models failing to identify pharmacological targets...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autophagy in Disease and Therapy
• Share to Cellular transport and secretion
• Share to Lysosomal Storage Disorders Research