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

Year: 2025

Type: peer-review

Abstract: Targeting EMC10 restores neuronal function in 22q11.2DS patient-derived neurons and reverses cognitive deficits in adult mice, highlighting its potential as a therapeutic strategy for mitigating disease-related cognitive impairments.

DOI: 10.7554/elife.103328.3.sa2

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

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

OpenAlex ID: W4410760510

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