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Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene
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SORL1 protein is differentially expressed in neurons in wild-type mice.
“an immunofluorescence map of SORL1 protein expression in WT mice confirms previous cell culture observations (Thonberg et al., 2017), showing that SORL1 protein is differentially expressed in neurons (Figures 5A and 5B).”
From The neuronal retromer can regulate both neuronal and microglial phenotypes of Alzheimer's disease (2022) · cites this paper as Thonberg et al., 2017
The Results (Neuropathology and immunohistochemistry; page unavailable) report reduced SORL1 staining in pyramidal neurons from affected family members compared with human controls and sporadic Alzheimer disease cases. That supports a difference in neuronal SORL1 staining, but the cited observations are from post-mortem human brain tissue, not cell culture or wild-type mice. (LLM, conf=0.86)
Experimental — accuracy not yet measuredDecreased expression of SORLA has been repeatedly observed in human AD brains.
“decreased expression of SORLA has been repeatedly observed in human ad brains”
From The Alzheimer's Disease Gene SORL1 Regulates Lysosome Function in Human Microglia (2025) · cites this paper as Thonberg et al. 2017
The Results (Neuropathology and immunohistochemistry; page unavailable) report reduced SORL1 staining in the brains of two affected family members. The reduction was relative to both controls and sporadic AD cases; the paper does not establish that decreased SORLA expression has been repeatedly observed across human AD brains. (LLM, conf=0.86)
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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
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Molecular genetics of early-onset Alzheimer’s disease revisited
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Cited by
Sorted by citations
The neuronal retromer can regulate both neuronal and microglial phenotypes of Alzheimer's disease
Qureshi, Y. H., Berman, D. E., Marsh, S. E., Klein, R. L., Patel, V. M., Simoes, S., Kannan, S., Petsko, G. A., Stevens, B., & Small, S. A. (2022) · Cell Reports · doi:10.1016/j.celrep.2021.110262 · Cited by 31
The Alzheimer's Disease Gene SORL1 Regulates Lysosome Function in Human Microglia
Mishra, S., Morshed, N., Sidhu, S. B., Kinoshita, C., Stevens, B., Jayadev, S., & Young, J. E. (2025) · Glia · doi:10.1002/glia.70009 · Cited by 31
Metadata
- Authors
- Thonberg, H., Chiang, H.-H., Lilius, L., Forsell, C., Lindström, A.-K., Johansson, C., Björkström, J., Thordardottir, S., Sleegers, K., Van Broeckhoven, C., Rönnbäck, A., & Graff, C.
- ORCID
- Thonberg, Håkan
- Venue
- Acta Neuropathologica Communications
- Published
- 2017-06-09
- Volume
- 5
- Issue
- 1
- ISSN
- 2051-5960
- PMC
- PMC5465543
- Cited by
- 58
- References
- 6
- Language
- en
- Funders
- Vetenskapsrådet (Dnr 521-2010-3134, 2015-02926,)
- Swedish Brain Power
- Karolinska Institutet Strategic Neuroscience program
- Gun och Bertil Stohnes Stiftelse
- Gun och Bertil Stohnes Stiftelse (SE)
- Stiftelsen för Gamla Tjänarinnor
- Foundation for Geriatric Diseases at KI
- Tore Nilsons Stiftelse för Medicinsk Forskning
- Loo och Hans Ostermans Stiftelse för Medicinsk Forskning
- Swedish Alzheimer foundation
- MARIANNE OCH MARCUS WALLENBERGS STIFTELSE
- Konung Gustaf V:s och Drottning Victorias Frimurarestiftelse
- Hjärnfonden
- Stockholms Läns Landsting
- The Research Foundation Flanders
- The Belgian Science Policy Office
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