ArticleNeurogenetics2015
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.
Article in Neurogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 45 citations in OpenAlex.
- Novel Variants Identified in Families With SNX27 -Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic Spectrum.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Metabolic reprogramming in astrocytes results in neuronal dysfunction in intellectual disability.Molecular psychiatry · 2024Article
- Mapping the global interactome of the ARF family reveals spatial organization in cellular signaling pathways.Journal of cell science · 2024Article
- Direct modulation of G protein-gated inwardly rectifying potassium (GIRK) channels.Frontiers in physiology · 2024Review
- Review
- Review
- Sorting Out Sorting Nexins Functions in the Nervous System in Health and Disease.Molecular neurobiology · 2021Review
- Sorting nexin-27 regulates AMPA receptor trafficking through the synaptic adhesion protein LRFN2.eLife · 2021Article
- Toward Understanding the Molecular Role of SNX27/Retromer in Human Health and Disease.Frontiers in cell and developmental biology · 2021Review
- Sorting Nexins in Protein Homeostasis.Cells · 2020Review
- Sorting Nexin 27 as a potential target in G protein‑coupled receptor recycling for cancer therapy (Review).Oncology reports · 2020Review
- Membrane trafficking in health and disease.Disease models & mechanisms · 2020Review
- Overexpression of HumanFrontiers in cell and developmental biology · 2020Article
- SNX27-Mediated Recycling of Neuroligin-2 Regulates Inhibitory Signaling.Cell reports · 2019Article
- Coatopathies: Genetic Disorders of Protein Coats.Annual review of cell and developmental biology · 2019Review
- To degrade or not to degrade: mechanisms and significance of endocytic recycling.Nature reviews. Molecular cell biology · 2018Review
- GIRK currents in VTA dopamine neurons control the sensitivity of mice to cocaine-induced locomotor sensitization.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Article
- Mechanisms of AMPA Receptor Endosomal Sorting.Frontiers in molecular neuroscience · 2018Review
- Recent Findings on AMPA Receptor Recycling.Frontiers in cellular neuroscience · 2018Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
The composition of the neuronal cell surface dictates synaptic plasticity and thereby cognitive development. This remodeling of the synapses is governed by the endocytic network which internalize transmembrane proteins, then sort them back to the cell surface or carry them to the lysosome for degradation. The multi-protein retromer complex is central to this selection, capturing specific transmembrane proteins and remodeling the cell membrane to form isolated cargo-enriched transport carriers. We investigated a consanguineous family with four patients who presented in infancy with intractable myoclonic epilepsy and lack of psychomotor development. Using exome analysis, we identified a homozygous deleterious mutation in SNX27, which encodes sorting nexin 27, a retromer cargo adaptor. In western analysis of patient fibroblasts, the encoded mutant protein was expressed at an undetectable level when compared with a control sample. The patients' presentation and clinical course recapitulate that reported for the SNX27 knock-out mouse. Since the cargo proteins for SNX27-mediated sorting include subunits of ionotropic glutamate receptors and endosome-to-cell surface synaptic insertion of AMPA receptors is severely perturbed in SNX27(-/-) neurons, it is proposed that at least part of the neurological aberrations observed in the patients is attributed to defective sorting of ionotropic glutamate receptors. SNX27 deficiency is now added to the growing list of neurodegenerative disorders associated with retromer dysfunction.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.