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

Young, R. E., Zuccaro, M. V., LeDuc, C. A., Germain, N. D., Kim, T. H., Sarmiere, P., & Chung, W. K. (2025). Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown. Human Genetics and Genomics Advances, 6(3), 100450. https://doi.org/10.1016/j.xhgg.2025.100450
Authors:
Randee E Young
Michael V Zuccaro
Charles A LeDuc
Noelle D Germain
Tae Hyun Kim
Patrick Sarmiere
Wendy K Chung
Affiliated Authors:
Randee E Young
Michael V Zuccaro
Charles A LeDuc
Wendy K Chung
Columbia Affiliation:
Subjects:
Gene Therapy for Spinal Muscular Atrophy (OpenAlex Topic)
Protein Arginine Methylation in Mammals (OpenAlex Topic)
Structure and Function of the Nuclear Pore Complex (OpenAlex Topic)
Author Keywords:
houge-janssens syndrome
ppp2r5d
rna-seq
allele-specific knockdown
antisense oligonucleotides
ipscs
induced pluripotent stem cells
neurite outgrowth
neurodevelopmental disorders
patient-derived neurons
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Publication Type:
Article
Unique ID:
10.1016/j.xhgg.2025.100450
PMID:
40340253
DOI:
10.1016/j.xhgg.2025.100450
Journal:
Human Genetics and Genomics Advances
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record

Record Created: