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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Bibliografiska uppgifter
I publikationen:J Biol Chem
Huvudupphovsmän: Yin, Tao, Yao, Wen, Lemenze, Alexander D., D’Adamio, Luciano
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Biochemistry and Molecular Biology 2020
Ämnen:
Research Article
Länkar: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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