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Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N
Abstract
Vacuolar protein sorting 35 (VPS35) is a core component of the retromer complex, crucial to endosomal protein sorting and intracellular trafficking. We recently linked a mutation in VPS35 (p.D620N) to familial parkinsonism. Here, we characterize human VPS35 and retromer function in mature murine neuronal cultures and investigate neuron-specific consequences of the p.D620N mutation. We find VPS35 localizes to dendritic spines and is involved in the trafficking of excitatory AMPA-type glutamate receptors (AMPARs). Fundamental neuronal processes, including excitatory synaptic transmission, AMPAR surface expression and synaptic recycling are altered by VPS35 overexpression. VPS35 p.D620N acts as a loss-of-function mutation with respect to VPS35 activity regulating synaptic transmission and AMPAR recycling in mouse cortical neurons and dopamine neuron-like cells produced from induced pluripotent stem cells of human p.D620N carriers. Such perturbations to synaptic function likely produce chronic pathophysiological stress upon neuronal circuits that may contribute to neurodegeneration in this, and other, forms of parkinsonism.
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VPS35 suppression decreased surface levels of GLUT1/SLC2A1, AMPA receptors GRIA2, GRIA3, GRIA4, NMDA receptors GRIN1, GRIN2b, and SLC4A7.
“Validating our approach, downregulated proteins included the wellestablished Retromer cargo glucose transporter-1 (GLUT1/SLC2A1) [29], the ionotropic glutamate AMPA receptors (GRIA2, GRIA3, GRIA4) and NMDA receptors (GRIN1, GRIN2b) [80][81][82][83][84][85], as well as many other previously identified proteins including the sodium bicarbonate cotransporter-3 (SLC4A7) (Figure 1D, Supplementary Table”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [81]
There are several studies linking Retromer dysfunction to changes in AMPA and NMDA receptor expression and activity in neurons.
“There are several studies linking Retromer dysfunction to changes in AMPA and NMDA receptor expression and activity in neurons [80][81][82][83][84][85].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [81]
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“In addition, VPS35 localizes to dendritic spines and influences the trafficking of excitatory AMPARs (Munsie et al. 2015; Temkin et al. 2017).”
Jones, E., Adams, H., Chen, K.-E., Maroof, F., Ibbotson, T. M., Nakamura, Y., Banks, P. J., Healy, M. D., Lewis, P. A., Heesom, K. J., et al. (2026) · doi:10.64898/2026.05.14.724903
Metadata
- Authors
- Munsie, L. N., Milnerwood, A. J., Seibler, P., Beccano-Kelly, D. A., Tatarnikov, I., Khinda, J., Volta, M., Kadgien, C., Cao, L. P., Tapia, L., Klein, C., & Farrer, M. J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-11-21
- Volume
- 24
- Issue
- 6
- Pages
- 1691-1703
- ISSN
- 0964-6906
- 1460-2083
- Cited by
- 134
- References
- 4
- Language
- en
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