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

Movement disorders : official journal of the Movement Disorder Society(2023)

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摘要
Patient-derived cells recapitulate key pathological features of SCA1 pathogenesis providing a valuable tool for the identification of novel disease-specific processes. This model can be used for high throughput screenings to identify compounds, which may prevent or rescue neurodegeneration in this devastating disease. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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关键词
bioenergetics, disease modelling, electrophysiology, human induced pluripotent stem cells, MEA, neurodegeneration, neuronal aggregates, neuronal morphology, RNA sequencing, spinocerebellar ataxia type 1
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