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

• Hoofdauteurs: Jie Wang (Auteur), Yihan Wu (Auteur), Hong Dong (Auteur), Yunpeng Ji (Auteur), Lichun Zhang (Auteur), Yaxian Liu (Auteur), Yueshi Liu (Auteur), Xin Gao (Auteur), Yueqi Jia (Auteur), Xiaohua Wang (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2023-12-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...