ReviewHuman molecular genetics2019
Synapse diversity and synaptome architecture in human genetic disorders.
Review in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
36 citing papers in PubMed, 71 citations in OpenAlex.
- Review
- Synapse types are spatially associated with regional hemodynamics in the mouse brain.PLoS biology · 2026Article
- Molecular Physiology of the Neuronal Synapse.Current issues in molecular biology · 2026Review
- Article
- SIMPLEX Enriches Hydrophobic and Lipidated Proteins in Membrane Proteomics Experiments.Proteomics · 2025Article
- The pathogenic factor of ZC4H2-associated rare disorder is a postsynaptic regulator for synaptic activity and cognitive function.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Concerns regarding the interpretation of Shank3 protein isoforms expressed in Shank3BMolecular psychiatry · 2025Article
- Synapse vulnerability and resilience underlying Alzheimer's disease.EBioMedicine · 2025Review
- Data-driven synapse classification reveals a logic of glutamate receptor diversity.bioRxiv : the preprint server for biology · 2025Article
- SV2A is expressed in synapse subpopulations in mouse and human brain: implications for PET radiotracer studies.Wellcome open research · 2025Article
- Exploring Synaptic Pathways in Traumatic Brain Injury: A Cross-Phenotype Genomics Approach.Journal of neurotrauma · 2025Article
- Article
- Simulated complexes formed from a set of postsynaptic proteins suggest a localised effect of a hypomorphic Shank mutation.BMC neuroscience · 2024Article
- Cell Adhesion Molecule Signaling at the Synapse: Beyond the Scaffold.Cold Spring Harbor perspectives in biology · 2024Review
- Adaptation of Magnified Analysis of the Proteome for Excitatory Synaptic Proteins in Varied Samples and Evaluation of Cell Type-Specific Distributions.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Human mutations inFrontiers in molecular neuroscience · 2024Article
- Developing a Toolbox of Antibodies Validated for Array Tomography-Based Imaging of Brain Synapses.eNeuro · 2023Article
- Developing a Toolbox of Antibodies Validated for Array Tomography-Based Imaging of Brain Synapses.bioRxiv : the preprint server for biology · 2023Article
- Electrical synapse structure requires distinct isoforms of a postsynaptic scaffold.PLoS genetics · 2023Article
- Enriched environment-induced neuroplasticity in ischemic stroke and its underlying mechanisms.Frontiers in cellular neuroscience · 2023Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Over 130 brain diseases are caused by mutations that disrupt genes encoding the proteome of excitatory synapses. These include neurological and psychiatric disorders with early and late onset such as autism, schizophrenia and depression and many other rarer conditions. The proteome of synapses is highly complex with over 1000 conserved proteins which are differentially expressed generating a vast, potentially unlimited, number of synapse types. The diversity of synapses and their location in the brain are described by the synaptome. A recent study has mapped the synaptome across the mouse brain, revealing that synapse diversity is distributed into an anatomical architecture observed at scales from individual dendrites to the whole systems level. The synaptome architecture is built from the hierarchical expression and assembly of proteins into complexes and supercomplexes which are distributed into different synapses. Mutations in synapse proteins change the synaptome architecture leading to behavioral phenotypes. Mutations in the mechanisms regulating the hierarchical assembly of the synaptome, including transcription and proteostasis, may also change synapse diversity and synaptome architecture. The logic of synaptome hierarchical assembly provides a mechanistic framework that explains how diverse genetic disorders can converge on synapses in different brain circuits to produce behavioral phenotypes.
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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.