ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2013
X-linked intellectual disability-associated mutations in synaptophysin disrupt synaptobrevin II retrieval.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 40 citations in OpenAlex.
- Increased Expression of α-Synuclein Impairs Trafficking of the Essential SNARE Protein Synaptobrevin-2.Journal of neurochemistry · 2026Article
- Synaptophysin autoantibodies mediate synaptic dysfunction in cerebellar ataxia.Cell reports. Medicine · 2026Article
- INTS1 is required for maintaining accurate transcriptional integrity and behavior in zebrafish.NAR genomics and bioinformatics · 2025Article
- Elevated serum and cerebrospinal fluid levels of the synaptophysin and neurogranin with its altered brain expression in the early phase of traumatic brain injury as a potential marker of synaptic injury.International journal of legal medicine · 2025Article
- Control of Synaptotagmin-1 Trafficking by SV2A-Mechanism and Consequences for Presynaptic Function and Dysfunction.Journal of neurochemistry · 2025Review
- Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder.EBioMedicine · 2024Article
- Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Genetics and Epigenetics of the X and Y Chromosomes in the Sexual Differentiation of the Brain.International journal of molecular sciences · 2022Review
- An Epilepsy-Associated SV2A Mutation Disrupts Synaptotagmin-1 Expression and Activity-Dependent Trafficking.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Synaptophysin sustains presynaptic performance by preserving vesicular synaptobrevin-II levels.Journal of neurochemistry · 2019Article
- Going Too Far Is the Same as Falling ShortFrontiers in cellular neuroscience · 2019Review
- SYT1-associated neurodevelopmental disorder: a case series.Brain : a journal of neurology · 2018Article
- Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder.Neurobiology of disease · 2017Article
- Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets.Pharmacological reviews · 2017Review
- Safeguards of Neurotransmission: Endocytic Adaptors as Regulators of Synaptic Vesicle Composition and Function.Frontiers in cellular neuroscience · 2017Review
- Integration of Synaptic Vesicle Cargo Retrieval with Endocytosis at Central Nerve Terminals.Frontiers in cellular neuroscience · 2017Review
- Decreased synaptic proteins in neuronal exosomes of frontotemporal dementia and Alzheimer's disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- The iTRAPs: Guardians of Synaptic Vesicle Cargo Retrieval During Endocytosis.Frontiers in synaptic neuroscience · 2016Review
- A Fine Balance of Synaptophysin Levels Underlies Efficient Retrieval of Synaptobrevin II to Synaptic Vesicles.PloS one · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Synaptophysin is an integral synaptic vesicle (SV) protein that accounts for ∼10% of total SV protein cargo. Deletion of synaptophysin results in the defective retrieval of synaptobrevin II (sybII) from the plasma membrane during endocytosis, coupled with a slowing in the speed of endocytosis. Synaptophysin has been implicated in X-linked intellectual disability, with a recent study identifying four separate synaptophysin gene mutations in families affected by the disorder. To determine how these mutations may affect synaptophysin function, we expressed them in cultured neurons derived from synaptophysin knock-out mice. Two distinct truncating mutants were mislocalized throughout the axon and phenocopied the arrest of sybII retrieval in synaptophysin knock-out cultures. The remaining two mutants displayed a nerve terminal localization but did not support efficient sybII retrieval. Interestingly, one mutant fully rescued SV endocytosis kinetics, suggesting that sybII retrieval and endocytosis speed are independent from each other. These studies suggest that the efficient retrieval of sybII by synaptophysin may be key to maintaining synaptic health and perturbation of this event may contribute to the pathogenesis underlying neurodevelopmental disorders such as X-linked intellectual disability.
Indexed as
Identifiers
What OpenQuestion holds
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.