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Modeling and targeting haploinsufficiency in SHINE syndrome

2026-08-13

Abstract excerpt

DLG4-related Synaptopathy, or SHINE syndrome, is a neurodevelopmental disorder caused by de novo heterozygous variants in DLG4 gene, encoding the postsynaptic scaffold PSD-95. Although clinical and genetic evidence support haploinsufficiency, the consequences of pathogenic DLG4 variants in human neurons remain poorly defined. Here, we model three mutations spanning distinct protein domains: a frameshift, nonsense...

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Literature Corpus work
7edb3c1f-cc9b-5c11-b8e8-93035be6b1f5
DOI
10.64898/2026.08.07.743528
Open publication

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Modeling and targeting haploinsufficiency in SHINE syndromeDOI 10.64898/2026.08.07.743528
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