A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics

A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics

Abstract Objective Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST. The aim of this study was to identify the causativ...

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Main Authors: Jie Wang (Author), Yihan Wu (Author), Hong Dong (Author), Yunpeng Ji (Author), Lichun Zhang (Author), Yaxian Liu (Author), Yueshi Liu (Author), Xin Gao (Author), Yueqi Jia (Author), Xiaohua Wang (Author)
Format: Book
Published: BMC, 2023-12-01T00:00:00Z.
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