Findings demonstrate RNA foci disrupt NOVA2 in familial myoclonic tremor, suggesting a crucial mechanism.
These findings support a repeat motif-dependent mechanism involving (UUUCA)exp RNA foci and the functional disruption of the key RNA-binding protein NOVA2, providing valuable insights for future studies on FCMTE and other pentanucleotide repeat expansion diseases.
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Zhang et al. (2026) studied this question.
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