AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.

Connor J MaltbyAmy KransSamantha J GrudzienYomira PalaciosJessica MuiñosAndrea SuárezMelissa AsherVikram KhuranaSami J BarmadaAnke A DijkstraPeter K Todd

Published in: bioRxiv : the preprint server for biology (2023)

Human CANVAS neurons exhibit transcriptional and functional synaptic defects that are corrected by heterozygous repeat deletion but are independent of the gene within which they reside-RFC1.

Keyphrases

endothelial cells
spinal cord
induced pluripotent stem cells
pluripotent stem cells
gene expression
early onset
genome wide
dna methylation
spinal cord injury
copy number
oxidative stress
health insurance
affordable care act