Article

SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal disease model

2025-12-26

Abstract excerpt

Spinocerebellar Ataxia 27B (SCA27B), caused by a deep-intronic GAA•TTC repeat expansion in FGF14 , has recently been identified as one of the most frequent genetic ataxias. Yet its underlying disease mechanism remains largely unknown, and disease-modifying treatments targeting upstream disease mechanisms are lacking. Here we hypothesized that (i) SCA27B is caused by transcriptional repression of FGF14 , leading...

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Literature Corpus work: 1f79fd9a-a97f-5b49-80c4-33e80ac110b2
DOI: 10.64898/2025.12.24.696231

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