Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
|
Materias: | |
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 |