bioRxiv / medRxiv
open access
CC BY-NC 4.0
SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal model
Spinocerebellar Ataxia 27B (SCA27B), caused by a deep-intronic GAA repeat expansion in the first intron of the FGF14 gene, is one of the most frequent genetic ataxias. Its underlying disease mechanisms remain largely unknown, and disease-modifying therapies targeting upstream processes are lacking.
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