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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Principais autores:	Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2023-12-01
coleção:	BMC Medical Genomics
Assuntos:	SPAST Hereditary spastic paraplegias Spastin Intracellular accumulation
Acesso em linha:	https://doi.org/10.1186/s12920-023-01759-6
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