Danish and British dementia ITM2b/BRI2 mutations reduce BRI2 protein stability and impair glutamatergic synaptic transmission

Mutations in integral membrane protein 2B (ITM2b/BRI2) gene cause familial British and Danish dementia (FBD and FDD), autosomal dominant disorders characterized by progressive cognitive deterioration. Two pathogenic mechanisms, which may not be mutually exclusive, have been proposed for FDD and FBD:...

Descripción completa

Detalles Bibliográficos
Autores principales: Yin, Tao, Yao, Wen, Lemenze, Alexander D., D’Adamio, Luciano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948410/
https://www.ncbi.nlm.nih.gov/pubmed/33172889
http://dx.doi.org/10.1074/jbc.RA120.015679

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948410/
https://www.ncbi.nlm.nih.gov/pubmed/33172889
http://dx.doi.org/10.1074/jbc.RA120.015679

Ejemplares similares