A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Xiaolin LinWei WangMingyi YangNadirah DamsehMirta Mittelstedt Leal de SousaFadi JacobAnna LångElise KristiansenMarco PannoneMiroslava KissovaRunar AlmaasAnna KuśnierczykRichard SillerMaher ShahrourMotee Al-AshhabBassam Abu-LibdehWannan TangGeir SlupphaugOrly ElpelegStig Ove BøeLars EideGareth J SullivanJohanne Egge RinholmHongjun SongGuo-Li MingBarbara van LoonSimon EdvardsonJing YeMagnar BjøråsPublished in: Genome biology (2023)
This study provides new insights into pathological features and molecular underpinnings associated with OXR1 deficiency in patients.