Synaptic dysfunction in a hIPSC-derived neuronal model of ALS and FTD
Rachel Jackson, Matthew J Keuss, Peter Harley, Juan Burrone, Pietro Fratta · FENS Forum 2024
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are adult-onset neurodegenerative disorders that share common pathology and genetic causes. In many cases the RNA binding protein TDP-43 aggregates in the cytoplasm leading to the loss of its nuclear functions, including as a splicing repressor. This results in the erroneous inclusion of intronic sequences known as cryptic exons (CEs) in several mature mRNAs. Recently, it has been shown that TDP-43 depletion leads to CE inclusion in UNC13A, which encodes a protein crucial for priming synaptic vesicles for release. The UNC13A
ePoster · Neuroscience