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Article

Recapitulating and reversing human brain ribosomopathy defects via the maladaptive integrated stress response.

Science advances - 2 Feb 2024

Zhang Wei, Zhang Minjie, Ma Li, Jariyasakulroj Supawadee, Chang Qing, Lin Ziying, Lu Zhipeng, Chen Jian-Fu

Abstract excerpt

Animal or human models recapitulating brain ribosomopathies are incomplete, hampering development of urgently needed therapies. Here, we generated genetic mouse and human cerebral organoid models of brain ribosomopathies, caused by mutations in small nucleolar RNA (snoRNA) SNORD118. Both models exhibited protein synthesis loss, proteotoxic stress, and p53 activation and led to decreased proliferation and...

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Identifiers

PMID: 38306425
DOI: 10.1126/sciadv.adk1034
PMCID: PMC10836730

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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