Single-molecule fluorescence in-situ hybridization reveals that human SHANK3 mRNA expression varies during development and in autism-associated SHANK3 heterozygosity.

Samuel E TaylorRuth D TaylorJack PriceLaura C Andreae

Published in: Stem cell research & therapy (2018)

Human SHANK3 mRNA shows developmentally regulated dendritic localization in hiPSC-derived neurons, which is reduced in neurons generated from a haploinsufficient individual with autism. Although further replication is needed, given the importance of local mRNA translation in synaptic function, this could represent an important early abnormality.

Keyphrases

single molecule
endothelial cells
autism spectrum disorder
spinal cord
intellectual disability
induced pluripotent stem cells
pluripotent stem cells
living cells
transcription factor
binding protein
spinal cord injury