Abstract
•Loss-of-function mutations in the NKX6-2 transcription factor are linked to autosomal recessive spastic ataxia 8 (SPAX8).•SPAX8-related mutations show lower levels of protein expression, potentially due to nonsense-mediated mRNA decay (NMD).•We developed new molecular tools to study SPAX8-related NKX6-2 mutants in living cells, which are not targeted by NMD.•SPAX8-causing mutations lose their exclusive nuclear localization, display lower protein levels, or aggregate.•Our results indicate that at least some forms of SPAX8 belong to the superfamily of protein misfolding disorders.
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