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M. Nyegaard

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Open access Jul 2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

This work provides mechanistic evidence that a position effect at the SOX3 locus can cause hereditary spastic paraplegia and identifies a 3D regulatory rewiring of SOX3 and transcriptional dysregulation of SOX3 targets in iPSC-derived neurons.

T. Terkelsen, V. Yumiceba, Joshua Kim et al. · 0 citations