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

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, CHMP2B(Intron5). Loss-of-function mutations in spastin are the most common genetic cause of hereditary spastic paraplegias (HSP). How these...

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Detalles Bibliográficos
Autores principales: Chen, Yongping, Krishnan, Gopinath, Parsi, Sepideh, Pons, Marine, Nikolaki, Veroniki, Cao, Lu, Xu, Zuoshang, Gao, Fen-Biao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682730/
https://www.ncbi.nlm.nih.gov/pubmed/36414997
http://dx.doi.org/10.1186/s40478-022-01476-8

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