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An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.

Chunyang NiLeqian YuBarbara VonaDayea ParkYulei WeiDaniel A SchmitzYudong WeiYi DingMasahiro SakuraiEmily BallardYan LiuAshwani KumarChao XingHyung-Goo KimCumhur EkmekciEhsan Ghayoor KarimianiShima ImannezhadFatemeh EghbalReza Shervin BadvEva Maria Christina SchwaiboldMohammadreza DehghaniMohammad Yahya Vahidi MehrjardiZahra MetanatHosein EslamiyehEbtissal KhoujSaleh Mohammed Nasser AlhajjAziza ChedrawiCésar Augusto Pinheiro Ferreira AlvesHenry HouldenMichael KruerFowzan S AlkurayaCan CenikReza MaroofianJun WuMichael Buszczak
Published in: bioRxiv : the preprint server for biology (2024)
variants reduce ribosome levels specifically in neural progenitor cells. Inappropriately low ribosome levels cause a transient delay in radial glia fate commitment.Reduced ribosome levels impair translation of a selected subset of mRNAs.Genetic and pharmacologic activation of mTORC1 suppresses AIRIM-linked phenotypes.
Keyphrases
  • gene expression
  • dna methylation
  • brain injury