Matches in SemOpenAlex for { <https://semopenalex.org/work/W4327967424> ?p ?o ?g. }
- W4327967424 abstract "ABSTRACT Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder caused by a CAG-polyglutamine repeat expansion. SCA7 patients display a striking loss of Purkinje cell (PC) neurons with disease progression; however, PCs are rare, making them difficult to characterize. We developed a PC nuclei enrichment protocol and applied it to single-nucleus RNA-seq of a SCA7 knock-in mouse model. Our results unify prior observations into a central mechanism of cell identity loss, impacting both glia and PCs, driving accumulation of inhibitory synapses and altered PC spiking. Zebrin-II subtype dysregulation is the predominant signal in PCs, leading to complete loss of zebrin-II striping at motor symptom onset in SCA7 mice. We show this zebrin-II subtype degradation is shared across Polyglutamine Ataxia mouse models and SCA7 patients. It has been speculated that PC subtype organization is critical for cerebellar function, and our results suggest that a breakdown of zebrin-II parasagittal striping is pathological." @default.
- W4327967424 created "2023-03-21" @default.
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- W4327967424 date "2023-03-20" @default.
- W4327967424 modified "2023-09-30" @default.
- W4327967424 title "Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias" @default.
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- W4327967424 doi "https://doi.org/10.1101/2023.03.19.533345" @default.
- W4327967424 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37214832" @default.
- W4327967424 hasPublicationYear "2023" @default.
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