Article
SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.
Scientific reports - 22 Jan 2021
Unsicker Christine, Cristian Flavia-Bianca, von Hahn Manja, Eckstein Volker, Rappold Gudrun A, Berkel Simone
Abstract excerpt
SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD). Using CRISPR/Cas9 genome editing, we obtained SH-SY5Y cell lines with frameshift mutations on one or both SHANK2 alleles. We investigated the effects of the different SHANK2 mutations on cell morphology, cell proliferation and differentiation potential...
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