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20 results for “Synaptic dysfunction”
Raw data for: "Postsynaptic autism spectrum disorder genes and synaptic dysfunction"
<p>Schematic illustration representing postsynaptic proteins associated to ASD. These proteins are involved in different synaptic functions, either directly (ion channels and glutamate receptors), or indirectly, including transmembrane heterophilic (NLGNs) and homophilic (NrCAM) cell-adhesion molecules, and scaffolding proteins (PSD-95, Shank, Homer), that link transmembrane and membrane-associated protein complexes with the underlying actin cytoskeleton. Additional cellular functions may influence synaptic activity in ASD, such as alternative splicing (PTEN, RBFOX1, nSR100/SRRM4), RNA editing (FMR1, FXR1), transcription (FOXP1, FOXP2, TBR1, TSHZ3), translation (FMR1), degradation (UBE3A), and mitochondrial activity (AGC1).</p>
Association of aortic stiffness with biomarkers of neuroinflammation, synaptic dysfunction, and neurodegeneration
<p><b>Objectives:</b> To test the hypothesis that increased aortic stiffening is associated with greater cerebrospinal fluid (CSF) evidence of core Alzheimer's disease pathology (Ab, phosphorylated tau (p-tau)), neurodegeneration (total tau (t-tau)), synaptic dysfunction (neurogranin), neuroaxonal injury (neurofilament light (NFL)), and neuroinflammation (YKL-40, sTREM2), we analyzed pulse wave velocity (PWV) data and CSF data among older adults.</p> <p><b>Methods: </b>Participants free of stroke and dementia from the Vanderbilt Memory and Aging Project, an observational community-based study, underwent cardiac magnetic resonance to assess aortic pulse wave velocity (PWV, m/sec) and lumbar puncture to obtain CSF. Linear regressions related aortic PWV to CSF Ab, p-tau, t-tau, neurogranin, NFL, YKL-40, and sTREM2 concentrations adjusting for age, race/ethnicity, education, apolipoprotein (<i>APOE</i>) e4 status, Framingham Stroke Risk Profile, and cognitive diagnosis. Models were repeated testing PWV interactions with age, diagnosis, <i>APOE</i>-e4, and hypertension on each biomarker.</p> <p><strong>Results:</strong> 146 participants were examined (72±6 years). Aortic PWV interacted with age on p-tau (b=0.31, p=0.04), t-tau, (b=2.67, p=0.05), neurogranin (b=0.94, p=0.04), and sTREM2 (b=20.4, p=0.05). Among participants over age 73 years, higher aortic PWV related to higher p-tau (b=2.4, p=0.03), t-tau (b=19.3, p=0.05), neurogranin (b=8.4, p=0.01), and YKL-40 concentrations (b=7880, p=0.005). Aortic PWV had modest interactions with diagnosis on neurogranin (b=-10.76, p=0.03) and hypertension status on YKL-40 (b=-18020, p<0.001).</p> <p><b>Conclusions:</b> Among our oldest participants, age 74 years and older, greater aortic stiffening is associated with <i>in vivo</i> biomarker evidence of neuroinflammation, tau phosphorylation, synaptic dysfunction, and neurodegeneration, but not amyloidosis. Central arterial stiffening may lead to cumulative cerebral microcirculatory damage and blood flow delivery to tissue, resulting in neuroinflammation and neurodegeneration in more advanced age.</p>
Association of aortic stiffness with biomarkers of neuroinflammation, synaptic dysfunction, and neurodegeneration
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Synaptic dysfunction in human neurons with Autism associated deletions in PTCHD1-AS
GEO Series GSE129808. Homo sapiens. 7 samples. Type: Expression profiling by high throughput sequencing.
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
GEO Series GSE80312. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Protein kinase CK2α’ as a Dual Modulator of Immune Signaling and Synaptic Dysfunction in Tauopathy
GEO Series GSE298505. Mus musculus. 20 samples. Type: Expression profiling by high throughput sequencing.
Potential role of Bcl2 in lipid metabolism and synaptic dysfunction of age-related hearing loss
GEO Series GSE242359. Rattus norvegicus. 12 samples. Type: Expression profiling by high throughput sequencing.
CRISPR-Cas9-engineered PIGV341E mouse model mirrors human phenotype, shows hippocampal synaptic dysfunctions and suggests a major role of impaired Eph/Abl1 signaling in GPI anchor deficiencies
GEO Series GSE147722. Mus musculus. 2 samples. Type: Expression profiling by high throughput sequencing.
Neuronal γ-secretase regulates lipid metabolism, linking cholesterol to synaptic dysfunction in Alzheimer's disease
GEO Series GSE206102. Mus musculus; Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
Synaptic vesicle endocytosis deficits underlie GBA-linked cognitive dysfunction in Parkinson’s disease and Dementia with Lewy bodies
GEO Series GSE283187. Mus musculus. 15 samples. Type: Expression profiling by high throughput sequencing.
Enhancing Retromer Complex Stability Ameliorates Synaptic Dysfunction in a Mouse Model of Alzheimer's Disease
GEO Series GSE267989. Mus musculus. 27 samples. Type: Expression profiling by high throughput sequencing.
Overexpressing NEGR1 gene in mice brain induces anxiety or depression-like phenotypes and synaptic dysfunction
GEO Series GSE292811. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
APOE4 cell-specific mechanisms underlying cerebrovascular disorder precede neuronal and synaptic dysfunction and cognitive deficits in mice
GEO Series GSE185063. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
miR-342-5p/AnkG Pathway in Early AD Synaptic Dysfunction
ClinicalTrials.gov study NCT07353502. IPD Sharing: YES. Countries: 1. Publications: 0.
Autism risk gene KMT5B deficiency in prefrontal cortex induces synaptic dysfunction and social deficits via alterations of DNA repair and gene transcription
GEO Series GSE181807. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Allele-Specific Expression of PAXIP1-AS1 at rs112651172 in Schizophrenia and Bipolar Disorder Contributes to Synaptic Dysfunction and Behavioral Abnormalities in Mice
GEO Series GSE302229. Mus musculus. 7 samples. Type: Expression profiling by high throughput sequencing.
Pyrazole-derived TRPC3 antagonist ameliorates synaptic dysfunctions and memory deficits in Alzheimer’s disease models
GEO Series GSE253510. Mus musculus. 9 samples. Type: Expression profiling by high throughput sequencing.
m6A-mediated epi-transcriptomic dysregulation underlies synaptic dysfunction in fragile X syndrome [MeRIP-seq]
GEO Series GSE278698. Homo sapiens. 38 samples. Type: Other.
m6A-mediated epi-transcriptomic dysregulation underlies synaptic dysfunction in fragile X syndrome [RNA-seq]
GEO Series GSE278697. Homo sapiens. 13 samples. Type: Expression profiling by high throughput sequencing.
Autism-associated deletions of the lncRNA PTCHD1-AS result in synaptic dysfunction in human neurons
GEO Series GSE81624. Homo sapiens. 17 samples. Type: Expression profiling by array.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.