Alzheimer's disease: advances in trafficking
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All high-penetrance AD genetic risk alleles (APOE ε4 allele, Down syndrome, APP mutations and duplications, PSEN1 and PSEN2 mutations) have been linked in various experimental systems with increased Aβ deposition and increased formation of putative toxic Aβ peptide species.
“All high-penetrance AD genetic risk alleles (i.e. APOE ε4 allele, Down syndrome, APP mutations and duplications, PSEN1 and PSEN2 mutations) have been linked in various experimental systems with increased Aβ deposition and increased formation of putative toxic Aβ peptide species (46, 55-57).”
From Correlation of Alzheimer Disease Neuropathologic Changes With Cognitive Status: A Review of the Literature (2012) · cites this paper as [56]
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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
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- Authors
- Mayeux, R., & Hyslop, P. S. G.
- Affiliations
- Columbia University (US)
- ORCID
- Mayeux, Richard
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2008-01
- Volume
- 7
- Issue
- 1
- Pages
- 2-3
- ISSN
- 1474-4422 (ISSN-L)
- PMC
- PMC2739745
- OpenAlex
- W1985168631
- Cited by
- 20
- References
- 11
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2018: 1 · 2014: 2 · 2013: 1 · 2012: 2
- FWCI
- 2.26
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust
- National Institutes of Health (5r37ag015473-15)
- National Institute on Aging (P01AG007232, R37-AG015473)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Keywords
- Alzheimer's disease, amyloid-beta, amyloid precursor protein, APP trafficking, SORL1, single nucleotide polymorphisms, genetic association, Alzheimer's disease risk, age-related cognitive decline, apolipoprotein E, APOE ε4, APOE ε2, APOE ε3
- MeSH terms
- Alzheimer Disease, Animals, Humans, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, Protein Transport, LDL-Receptor Related Proteins, Membrane Transport Proteins
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