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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Biol Chem
Egile Nagusiak: Yin, Tao, Yao, Wen, Lemenze, Alexander D., D’Adamio, Luciano
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2020
Gaiak:
Sarrera elektronikoa: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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