A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics

BACKGROUND: Haploinsufficiency is widely accepted as the pathogenic mechanism of spastic paraplegia type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST. OBJECTIVES: To identify the causative gene of autosomal dominant here...

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Detalles Bibliográficos
Autores principales: Chen, Rui, Du, Shiyue, Yao, Yanyi, Zhang, Lu, Luo, Junyu, Shen, Yinhua, Xu, Zhenping, Zeng, Xiaomei, Zhang, Luoying, Liu, Mugen, Yin, Chuang, Tang, Beisha, Tan, Jun, Xu, Xuan, Liu, Jing Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Regular Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300132/
https://www.ncbi.nlm.nih.gov/pubmed/34927746
http://dx.doi.org/10.1002/mds.28885

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