PLD3 gene and processing of APP
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ARMs, but not IRMs, are enriched for known AD risk genes such as Apoe, Trem2, Tyrobp (DAP12), Ctsb, Ctsd, H2-Eb1, and Pld3.
“gene enrichment analysis indicates that ARMs, but not IRMs, are enriched for known AD risk genes such as Apoe, Trem2, Tyrobp (DAP12), Ctsb, Ctsd, H2-Eb1, and Pld3”
From The Major Risk Factors for Alzheimer’s Disease: Age, Sex, and Genes Modulate the Microglia Response to Aβ Plaques (2019) · cites this paper as Fazzari et al., 2017
The paper’s opening passage (p. 1) reports that PLD3 variants have been linked to increased Alzheimer’s disease risk, supporting Pld3 as one example in the list. It does not report gene-enrichment analysis, compare ARMs with IRMs, or establish the claimed enrichment of the listed genes. (LLM, conf=0.86)
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References 10 · Cited by 54
Research works printed but not linked: 1
- [5]5. Nixon, R. a. The role of autophagy in neurodegenerative disease. Nat. Med. 19, 983997 (2013).
- Authors
- Fazzari, P., Horre, K., Arranz, A. M., Frigerio, C. S., Saito, T., Saido, T. C., & De Strooper, B.
- Affiliations
- Universitair Ziekenhuis Leuven (BE)
- RIKEN Center for Brain Science (JP)
- Venue
- Nature
- Published
- 2017-01
- Volume
- 541
- Issue
- 7638
- Pages
- E1-E2
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2580530941
- Cited by
- 54
- References
- 10
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 10 · 2023: 3 · 2022: 4 · 2021: 10 · 2020: 4 · 2019: 11 · 2018: 6 · 2017: 1
- FWCI
- 4.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Lirias (submittedVersion)
- Funders
- Medical Research Council (MC_PC_17116)
- Japan Society for the Promotion of Science (26290019)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- PLD3, Alzheimer's disease, APP processing, APP, rare coding variants, genetic risk, autophagy, lysosomal proteolysis, endosomal-lysosomal system, axonal transport, conditional knockout mice, knock-in mice
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