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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:...

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Bibliografiske detaljer
Udgivet i:J Biol Chem
Main Authors: Yin, Tao, Yao, Wen, Lemenze, Alexander D., D’Adamio, Luciano
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2020
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7948410/
https://ncbi.nlm.nih.gov/pubmed/33172889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA120.015679
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