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Identification of Alzheimer disease-associated variants in genes that regulate retromer function
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Genetic studies have identified many genes associated with the endosomal network as causal for neurodegenerative disorders including Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis.
“Genetic studies have identified many genes associated with the endosomal network to be causal for numerous neurodegenerative disorders including Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis [1][2][3][4][5][6][7].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [1]
The Discussion (page unavailable) reports associations between retromer-related genes and Alzheimer’s disease risk, and states that rare VPS35 mutations cause Parkinson’s disease. It does not address amyotrophic lateral sclerosis, and its Alzheimer’s findings establish association rather than showing that the identified variants are causal. (LLM, conf=0.87)
Experimental — accuracy not yet measuredSingle nucleotide polymorphisms in SNX3 are associated with Alzheimer's disease.
“and single nucleotide polymorphisms (SNPs) in SNX3 are associated with Alzheimer's disease [1].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [1]
SNX3 has a PX domain and, alongside Rab7A, is important for facilitating Retromer's localisation to the endosome.
“SNX3 also has a PX domain and, alongside Rab7A, has been shown to be important for facilitating Retromer's localisation to the endosome [1,25,68].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [1]
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Self-citationAdjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix
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Metadata
- Authors
- Vardarajan, B. N., Bruesegem, S. Y., Harbour, M. E., George-Hyslop, P. S., Seaman, M. N. J., & Farrer, L. A.
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2012-09
- Volume
- 33
- Issue
- 9
- Pages
- 2231.e15-2231.e30
- ISSN
- 0197-4580
- PMC
- PMC3391348
- Cited by
- 142
- References
- 7
- Language
- en
- Funders
- NIH (R01 AG025259, R01-AG33193, U01-AG032984)
- Wellcome Trust
- Medical Research Council
- Canadian Institutes of Health Research
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