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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Vydáno v:J Biol Chem
Hlavní autoři: Yin, Tao, Yao, Wen, Lemenze, Alexander D., D’Adamio, Luciano
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2020
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Research Article
On-line přístup: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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