Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.

摘要: Dominant spinocerebellar ataxias (SCAs) constitute a large group of phenotypically and genetically heterogeneous disorders that mainly present with dysfunction the cerebellum as their main hallmark. Although animal cell models have been highly instrumental for our current insight into underlying disease mechanisms these neurodegenerative disorders, they do not offer full human genetic physiological context. The advent induced pluripotent stem cells (hiPSCs) protocols to differentiate essentially every type allows us closely model SCAs in In this review, we systematically summarize recent findings from studies using hiPSC-based modelling SCAs, discuss what knowledge has gained studies. We conclude are powerful tool contributed new mechanistic insights potential serve development therapies. However, use standardized methods multiple clones isogenic lines essential increase validity reproducibility gained.