Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Sheng-Jia LinBarbara VonaPatricia G BarbalhoRauan KaiyrzhanovReza MaroofianCassidy PetreeMariasavina SeverinoValentina StanleyPratishtha VarshneyPaulina BahenaFatema AlzahraniAmal AlhashemAlistair T PagnamentaGudrun AubertinJuvianee I Estrada-VerasHéctor Adrián Díaz HernándezNeda MazaheriAndrea OzaJenny ThiesDeborah L RenaudSanmati DugadJennifer McEvoyTipu SultanLynn S PaisBrahim TabarkiDaniel Villalobos-RamirezAboulfazl Radnull nullHamid GalehdariFarah AshrafzadehAfsaneh SahebzamaniKolsoum SaeidiErin TortiHouda Z ElloumiSara MoraTimothy B PalculictHui YangJonathan D Wrennull Ben FowlerManali JoshiMartine BehraShawn M BurgessSwapan K NathMichael G HannaMargaret KennaJ Lawrence MerrittHenry HouldenEhsan Ghayoor KarimianiMaha S ZakiThomas HaafFowzan S AlkurayaJoseph G GleesonGuarav K VarshneyPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Our work delineates the clinical spectrum associated with KARS1 defects and provides a novel animal model for KARS1-related human diseases revealing p53 signaling components as potential therapeutic targets.