Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells

Ataxia with oculomotor apraxia type 1 (AOA1) is an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (APTX). Here we use RNA-seq to identify genes that are affected by APTX-KO, APTX overexpression, and APTX mutant, thus contributes to understadning the mechanisms underlying AOA1 pathlogy. Published: https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkz083/5319145 Overall design: Examination the chages of gene expressions in APTX proficient and APTX deficienc cells.