A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.
Rui ChenShiyue DuYanyi YaoLu ZhangJunyu LuoYinhua ShenZhenping XuXiaomei ZengLuoying ZhangMugen LiuChuang YinBei-Sha TangJun TanXuan XuJing Yu LiuPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
SPAST mutations leading to premature stop codons do not always act through haploinsufficiency. The truncated spastin may damage the corticospinal tracts through an isoform-specific toxic effect.
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