The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias

The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias

Abstract Chromosome 3-linked frontotemporal dementia (FTD3) is caused by a gain-of-function mutation in CHMP2B, resulting in the production of a truncated toxic protein, CHMP2BIntron5. Loss-of-function mutations in spastin are the most common genetic cause of hereditary spastic paraplegias (HSP). Ho...

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Bibliographic Details
Main Authors: Yongping Chen, Gopinath Krishnan, Sepideh Parsi, Marine Pons, Veroniki Nikolaki, Lu Cao, Zuoshang Xu, Fen-Biao Gao
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Acta Neuropathologica Communications
Subjects:
CHMP2B
ESCRT
Frontotemporal dementia
Hereditary spastic paraplegias
Spastin
Online Access:https://doi.org/10.1186/s40478-022-01476-8

Internet

https://doi.org/10.1186/s40478-022-01476-8

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