Article

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

2022-01-12

Abstract excerpt

<h4>ABSTRACT</h4> Copy number variations (CNV) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. We used a heterozygous 15q13.3 microdeletion mouse model and patient iPSC-derived neurons to reveal developmental defects in neuronal maturation and network activity. To identify the underlying mol...

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Literature Corpus work: 6ef782ae-8163-5260-b282-8fe922fe38a9
DOI: 10.1101/2022.01.11.475723

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