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FAD-linked Presenilin-1 V97L mutation impede tranport regulation and intracellular Ca(2+) homeostasis under ER stress
We report a PS1 gene mutation (Val 97Leu) in a Chinese familial Alzheimer’s disease (FAD) pedigree and a cell model of FAD built by transfecting PS1 v97L mutants into human neuroblastoma SH-SY5Y cells. To test our hypothesis that the PS1 v97L mutation is pathogenic, we investigated possible alterati...
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| Publicado no: | Int J Clin Exp Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
e-Century Publishing Corporation
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4723842/ https://ncbi.nlm.nih.gov/pubmed/26884997 |
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