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Pharmacologic enhancement of retromer rescues endosomal pathology induced by defects in the Alzheimer’s gene SORL1

Mishra, Swati, Knupp, Allison, Kinoshita, Chizuru, Williams, C. Andrew, Rose, Shannon E., Martinez, Refugio, Theofilas, Panos, Young, Jessica E.·2023·Stem Cell Reports
DOI 10.1016/j.stemcr.2023.10.011PMC PMC10724056
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  • Sorl1 distribution is altered both in APP overexpressing AD models such as 5xFAD and in Sorl1 mutations linked to AD pathology.

    “Sorl1 distribution that has been reported to be altered both in APP overexpressing AD models such as 5xFAD and in Sorl1 mutations that have been linked to AD pathology [29].”

    From Stabilizing the retromer complex rescues synaptic dysfunction and endosomal trafficking deficits in an Alzheimer’s disease mouse model (2025) · cites this paper as [29]

    The Results section identifies SORL1 variants associated with increased Alzheimer’s disease risk. It reports altered localization of APP and VPS35 in SORL1-deficient neurons, not altered distribution of SORL1 itself; our copy also does not report a 5xFAD or other APP-overexpressing model. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

  • SORLA deletion as well as AD-associated Y1816C, G511R, E270K and Y141C variants can promote endosomal enlargement and dysregulated trafficking of targets such as APP and GLUA1 in iPSC-derived neurons.

    “SORLA deletion as well as AD-associated Y1816C, G511R, E270K and Y141C variants can promote endosomal enlargement (Knupp, Mishra et al. 2020, Hung, Tuck et al. 2021, Mishra, Knupp et al. 2023, Jensen, Raska et al. 2024) and dysregulated trafficking of targets such as APP and GLUA1 in iPSC-derived neurons (Mishra, Knupp et al. 2022).”

    From SORLA up-regulation suppresses pathological effects in aged tauopathy mouse brain (2026) · cites this paper as Mishra, Knupp et al. 2023

  • Pharmacological retromer enhancement can reduce Aβ and ptau levels in iPSC-derived neurons with AD-associated SORLA variants (G511R, E270K, Y141C) or deletion/haploinsufficiency.

    “Similarly, pharmacological retromer enhancement can reduce Aβ and ptau levels in iPSC-derived neurons with AD-associated SORLA variants (G511R, E270K, Y141C) or deletion/haploinsufficiency (Mishra, Knupp et al. 2023).”

    From SORLA up-regulation suppresses pathological effects in aged tauopathy mouse brain (2026) · cites this paper as Mishra, Knupp et al. 2023

  • Retromer stabilization has been suggested as a promising therapeutic approach to treat Alzheimer's disease, another retromer dysfunction-related disorder.

    “Retromer stabilization has been suggested as a promising therapeutic approach to treat Alzheimer’s disease, another retromer dysfunction–related disorder;56,100”

    From EHBP1 suppresses liver fibrosis in metabolic dysfunction-associated steatohepatitis (2025) · cites this paper as [100]

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Research works printed but not linked: 42

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Metadata

Authors
Mishra, S., Knupp, A., Kinoshita, C., Williams, C. A., Rose, S. E., Martinez, R., Theofilas, P., & Young, J. E.
ORCID
Young, Jessica E.
Venue
Stem Cell Reports
Publisher
Elsevier BV
Published
2023-12
Volume
18
Issue
12
Pages
2434-2450
ISSN
2213-6711
DOI
10.1016/j.stemcr.2023.10.011
PMC
PMC10724056
Cited by
28
References
3
Language
en
Licence
Funders
  • BrightFocus Foundation (A2018656S)
  • NIH (P30 AG066509, T32 AG052354, R01AG062148)
  • Lawrence Ellison Foundation
  • Biogen

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