Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHANK3 gene. To date, the molecular and pathway changes resulting from S...

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Bibliographic Details
Main Authors: Michael S. Breen, Andrew Browne, Gabriel E. Hoffman, Sofia Stathopoulos, Kristen Brennand, Joseph D. Buxbaum, Elodie Drapeau
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Molecular Autism
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13229-020-00355-0