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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:...

詳細記述

保存先:
書誌詳細
出版年:J Biol Chem
主要な著者: Yin, Tao, Yao, Wen, Lemenze, Alexander D., D’Adamio, Luciano
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2020
主題:
オンライン・アクセス: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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