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Article

Spinocerebellar Ataxia Type 1 Characteristics in Patient‐Derived Fibroblast and iPSC ‐Derived Neuronal Cultures

6 Jun 2023

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by a polyglutamine expansion in the ataxin-1 protein resulting in neuropathology including mutant ataxin-1 protein aggregation, aberrant neurodevelopment, and mitochondrial dysfunction. OBJECTIVES: Identify SCA1-relevant phenotypes in patient-specific fibroblasts and SCA1 induced pluripotent stem cells (iPSCs) neuronal...

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PMID: 37278528
DOI: 10.1002/mds.29446

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