Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown

Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown

Summary: A significant barrier to the treatment of neurodevelopmental disorders (NDDs) is a limited understanding of disease mechanisms. Heterozygous missense variants in PPP2R5D cause Houge-Janssens syndrome 1, a rare NDD characterized by macrocephaly, developmental delay, intellectual disability,...

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Bibliographic Details
Main Authors: Randee E. Young, Michael V. Zuccaro, Charles A. LeDuc, Noelle D. Germain, Tae Hyun Kim, Patrick Sarmiere, Wendy K. Chung
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:HGG Advances
Subjects:
neurodevelopmental disorders
PPP2R5D
Houge-Janssens syndrome
induced pluripotent stem cells
iPSCs
patient-derived neurons
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000533
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http://www.sciencedirect.com/science/article/pii/S2666247725000533

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