Work

Author response: An antisense oligonucleotide-based strategy to ameliorate cognitive dysfunction in the 22q11.2 Deletion Syndrome

Year: 2025

Type: peer-review

Abstract: AssessmentThis is an important study that establishes how anti-sense oligonucleotides degrading a specific target protein called EMC10 can rescue neuronal function in models of chromosome 22.11.2 deletions.The authors use human iPSC-derived neurons and a mouse model to provide compelling data for the rescue of cellular and cognitive features of 22.11.2 phenotypes upon ASO regulation of EMC10.These pre-clinical data are of interest because they support reduction of ECM10 as a promising therapeutic strategy.

Source: eLife

DOI: 10.7554/elife.103328.2.sa0

Authors: Pratibha Thakur, Martin Lackinger, Anastasia Diamantopoulou, Sneha Rao, Yijing Chen, Khakima Khalizova, Annie Ferng, Curt Mazur, Holly Kordasiewicz, Robert J Shprintzen, Sander Markx, Bin Xu, Joseph A Gogos

Institutions: Ionis Pharmaceuticals (United States), Mortimer B. Zuckerman Mind Brain Behavior Institute, Columbia University, Stavros Niarchos Foundation

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,500

Funders: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Stavros Niarchos Foundation, National Institutes of Health, National Institute of Mental Health, National Cancer Institute

Awards: G3870997364, MicroRNA Dysregulation in Pyschiatric Disorders and Cognitive Dysfunction, Cancer Center Support Grant

OpenAlex ID: W4408668317

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