{
  "id": 816831,
  "title": "Modeling and targeting haploinsufficiency in SHINE syndrome",
  "url": "https://urgent.news/2026/08/13/modeling-and-targeting-haploinsufficiency-in-shine-syndrome",
  "topic": "science",
  "section": "Science",
  "published": "2026-08-13T00:00:00.000Z",
  "source": {
    "name": "bioRxiv",
    "slug": "biorxiv",
    "url": "https://www.biorxiv.org/content/10.64898/2026.08.07.743528v1?rss=1"
  },
  "original_language": "en",
  "account": null,
  "summary": "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…",
  "key_points": [],
  "editors_take": null,
  "illustration": null,
  "coverage": {
    "outlets": 1,
    "also_reported_by": []
  },
  "ai_generated": true,
  "disclaimer": "Summaries, key points and the editor’s take are written by software from other outlets’ reporting and may contain errors — always check the linked original."
}