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Article

A congenital hydrocephalus-causing mutation in Trim71 induces stem cell defects via inhibiting Lsd1 mRNA translation.

EMBO reports - 6 Feb 2023

Liu Qiuying, Novak Mariah K, Pepin Rachel M, Maschhoff Katharine R, Worner Kailey, Chen Xiaoli, Zhang Shaojie, Hu Wenqian

Abstract excerpt

Congenital hydrocephalus (CH) is a major cause of childhood morbidity. Mono-allelic mutations in Trim71, a conserved stem-cell-specific RNA-binding protein, cause CH; however, the molecular basis for pathogenesis mediated by these mutations remains unknown. Here, using mouse embryonic stem cells as a model, we reveal that the mouse R783H mutation (R796H in human) alters Trim71's mRNA substrate specificity and...

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Identifiers

PMID: 36573342
DOI: 10.15252/embr.202255843
PMCID: PMC9900330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A congenital hydrocephalus-causing mutation in Trim71 induces stem cell defects via inhibiting Lsd1 mRNA translation.PMID 36573342Read ↗

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