Author

Kumi Takatsuto

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Open access Sep 2026

AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants.

These findings establish CBLN1 deficiency as a cause of hereditary ataxia and identify extracellular CBLN1 replacement as a therapeutic strategy for a reversible cerebellar synaptopathy.

Tokiwa Yamasak, W. Kakegawa, Ayumi Hayashi et al. · Molecular Therapy · 0 citations