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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Bibliographic Details
Main Authors: Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang
Format: Article
Language:English
Published: BMC 2023-12-01
Series:BMC Medical Genomics
Subjects:
SPAST
Hereditary spastic paraplegias
Spastin
Intracellular accumulation
Online Access:https://doi.org/10.1186/s12920-023-01759-6

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