SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Psychiatry and Mental health,Molecular Biology
Link
http://www.nature.com/articles/mp2015121.pdf
Reference23 articles.
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2. Dodson SE, Andersen OM, Karmali V, Fritz JJ, Cheng D, Peng J et al. Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: evidence for a proximal role in Alzheimer's disease. J Neurosci 2008; 28: 12877–12886.
3. Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J et al. Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci USA 2005; 102: 13461–13466.
4. Caglayan S, Takagi-Niidome S, Liao F, Carlo AS, Schmidt V, Burgert T et al. Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer's disease mutation. Sci Transl Med 2014; 6: 223ra20.
5. Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S et al. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 2012; 17: 875–879.
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