Values for all data points in graphs in main and supplementary figures in "AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants."
Year: 2026
Type: supplementary-materials
Abstract: Yuzaki and colleagues identify biallelic CBLN1 variants as a cause of early-onset hereditary ataxia and show that loss of extracellular CBLN1 disrupts cerebellar synapses. Astrocyte-targeted AAV delivery restores synaptic CBLN1 and rescues circuit and motor dysfunction, establishing extracellular synaptic organizer replacement as a therapeutic strategy.
Source: Figshare
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7212427328