Gene synaptic membrane. Medical search. Frequent questions

Aβ-mediated oxidative stress results in mitochondrial dysfunction, impairment of glucose metabolism, loss of proteostasis and synaptic plasticity, altered signal transduction, neuroinflammation, and progressive loss of neurons 9 . (nature.com)
The aim of the present work is to review cumulative evidence regarding the participation of PI3K pathways in neuronal function, focusing on their role in neuronal metabolism and transcriptional regulation of genes involved in neuronal maintenance and plasticity or on the expression of pathological hallmarks associated with neurodegeneration. (mdpi.com)
It is also involved in the regulation of short-term and long-term synaptic plasticity. (thermofisher.com)
that plays a role in a process called synaptic plasticity. (medlineplus.gov)
Impaired breakdown of the neuronal protein disrupts normal synaptic connections and plasticity, which likely contributes to dementia in people with Gordon Holmes syndrome. (medlineplus.gov)

This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. (nih.gov)
Genes encoding disrupted complementary interactors tend to be risk genes, and an interaction network built from these proteins is enriched for ASD proteins. (springer.com)
Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. (nih.gov)
These proteins are abundant in the brain and play a role in regulating synaptic transmission and membrane trafficking. (thermofisher.com)
This study provides the first in vivo evidence of trapped SD proteins in clathrin-coated pits at the plasma membrane when this pathway is disrupted. (sdbonline.org)
All genes in this SD protein endocytosis and recycling pathway, as well as SD proteins themselves, are highly conserved from flies to humans. (sdbonline.org)
Thus, these results suggest that the SD proteins in human kidney undergo the same endocytosis and recycling pathway to maintain the filtration structure, and mutations in any genes in this pathway could lead to abnormal SD and renal diseases. (sdbonline.org)
It forms a disc that consists of a range of proteins with different functions, some of which contact the cytoplasmic domains of ion channels in the postsynaptic membrane. (yeastrc.org)
Extensive evidence has revealed that the core clock machinery involves "clock genes" and "clock proteins" functioning as molecular cogs. (bioone.org)
Sodium channels are heteromultimeric membrane proteins, consisting of a large alpha subunit that forms the pore, and one or more beta subunits. (nih.gov)
The C2 domain is a Ca 2+ -dependent membrane-targeting module found in many cellular proteins involved in signal transduction or membrane trafficking. (embl.de)
The protein produced from the RNF216 gene is involved in a cellular process, called ubiquitination, by which unneeded proteins are tagged with a molecule called ubiquitin. (medlineplus.gov)
RNF216 gene mutations impair the ability of the RNF216 protein to tag unneeded proteins to be broken down. (medlineplus.gov)
N-Glycosylation plays an important role in the structure and function of membrane and secreted proteins. (cdc.gov)

Synaptic vesicle membrane protein VAT-1 homolog is a protein that in humans is encoded by the VAT1 gene . (wn.com)
Later, as a professor at UCSF, he discovered synaptotagmin, using the first monoclonal antibody that defined a synaptic vesicle membrane protein ( 3 ), showed that expression levels of nerve growth factor in target tissues correlate with the density of innervation ( 4 ), and characterized the properties of mice lacking genes encoding the neurotrophins and their Trk receptors ( 5 , 6 ). (rupress.org)

Regulating synaptic membrane exocytosis 3 is a protein that in humans is encoded by the RIMS3 gene. (wikipedia.org)
Interaction between stmA and genes for the inositol triphosphate receptor (itpr) and for endocytosis and exocytosis in synaptic vesicles is also shown. (isgpb.org)

Synaptophysin is a calcium-binding and integral membrane glycoprotein present in presynaptic vesicles in almost all neurons. (thermofisher.com)
NTE is found most abundantly in the nervous system and is thought to help maintain the stability of membranes surrounding neurons. (medlineplus.gov)
Syngap1 haploinsufficiency increases activity level of Ras-ERK-mTOR, causing excessive insertion of AMPA receptor at the postsynaptic membrane of excitatory neurons and affects spine morphology. (umontreal.ca)
Syngap1 haploinsufficiency in GABAergic neurons originating from the medial ganglionic eminence reduces the number of perisomatic innervation formed by parvalbuminexpressing basket cells and reduces inhibitory synaptic activity. (umontreal.ca)
Patch clamp recording ex vivo (fresh tissue preparations) and, to some extent in vitro (cell cultures), to study intrinsic electrical properties of single cells, such as resting membrane potential, membrane resistance and capacitance, action potential parameters, presence and function of various channels and receptors as well as synaptic connectivity, and to identify, characterize and quantify synaptic transmission in neurons. (lu.se)

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
To maximize the potential disease relevance, genes with a genome-wide significant excess burden of loss-of-function mutations in NPDs such as intellectual disability/developmental delay, autism spectrum disorder, and schizophrenia are the focus. (nih.gov)
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease? (mdpi.com)
Mutations in the gene can result in mental retardation, X-linked 96. (thermofisher.com)
Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene. (molvis.org)
Mutations in four genes have been identified in familial hemiplegic migraine (FHM), from which CACNA1A (FHM type 1) and SCN1A (FHM type 3) code for neuronal voltage-gated calcium or sodium channels, respectively, while ATP1A2 (FHM type 2) encodes the α 2 isoform of the Na + ,K + -ATPase's catalytic subunit, thus classifying FHM primarily as an ion channel/ion transporter pathology. (frontiersin.org)
FHM type 4 is attributed to mutations in the PRRT2 gene, which encodes a proline-rich transmembrane protein of as yet unknown function. (frontiersin.org)
Mutations within the SynGAP1 gene are associated with ASD due to over activation of RAS-GTP causing insertion of AMPA receptors onto the post synaptic membrane, and thus early maturation of dendrites. (iupui.edu)
Disease-linked missense mutations and multiplication of the SNCA gene encoding α-synuclein have been reported in familial forms of α-synucleinopathies, indicating that structural changes and overexpression of α-synuclein protein are involved in the development of α-synucleinopathies ( Wong and Krainc, 2017 ). (elifesciences.org)
Mutations in the PINK1 gene (also known as PARK6) are associated with early onset Parkinson's disease. (bmglabtech.com)
Mutations in the Cav1.2 gene have been associated with Timothy syndrome, Brugada syndrome 3 and Long QT syndrome 8. (antibodiesinc.com)
Gordon Holmes syndrome can be caused by mutations in the RNF216 or PNPLA6 gene. (medlineplus.gov)
Some people with the condition do not have mutations in these genes, indicating that mutations in other genes are likely involved in the condition. (medlineplus.gov)
PNPLA6 gene mutations are thought to impair NTE's function. (medlineplus.gov)
Individuals with Gordon Holmes syndrome caused by PNPLA6 gene mutations do not appear to develop dementia. (medlineplus.gov)
which means both copies of the gene in each cell have mutations. (medlineplus.gov)
Numerous studies have linked intellectual disability with mutations in genes coding for protein active at the synapses. (umontreal.ca)
De novo mutations in the SYNGAP1 gene, coding for a GTPase-activating protein, causes moderate to severe intellectual disability. (umontreal.ca)
Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. (ageing-map.org)

The post synaptic density is a region that lies adjacent to the cytoplasmic face of the postsynaptic membrane at excitatory synapse. (yeastrc.org)
Normal neuromuscular junction showing a presynaptic terminal with a motor nerve ending in an enlargement (bouton terminale): Synaptic cleft and postsynaptic membrane with multiple folds and embedded with several acetylcholine receptors. (medscape.com)

Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. (wn.com)
The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. (wn.com)
First, endocytic vesicles arise when the cellular membranes invaginate, and they fuse together to create early endosomes. (hindawi.com)

In brain, it can be detected in the hippocampus and brain cortex in the post-synaptic density and in neuronal cell bodies. (antibodiesinc.com)

Here we report that synaptic and extrasynaptic NMDA (N-methyl-D-aspartate) receptors have opposite effects on CREB (cAMP response element binding protein) function, gene regulation and neuron survival. (nih.gov)
Pathologic features of AD are characterized by persistent deposition of the intercellular amyloid β-peptide (Aβ) plaques and intracellular tau protein and impairment of the neuron-to-neuron synaptic communication and nutrient transportation inside neuron 3 . (nature.com)
In order to understand the effects of sodium channels on synaptic signaling and response in the cerebellum, it is essential to know for each class of neuron what sodium channel isoforms are present, and the properties and distribution of each. (nih.gov)
The connectivity of a neuron (its unique constellation of synaptic inputs and outputs) is essential for its function. (stanford.edu)
How each neuron finds its synaptic partners has been a central question in developmental neurobiology. (stanford.edu)

Consistent with other studies, genes identified by disrupted protein interactions are expressed early in development and in excitatory and inhibitory neuronal lineages. (springer.com)
Using inferred gene co-expression for three neuronal cell types-excitatory, inhibitory, and neural progenitor-we implicate several hundred genes in risk (FDR \(\le \hspace{0.17em}\) 0.05), ~ 60% novel, with characteristics of genuine ASD genes. (springer.com)
AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. (bvsalud.org)

Calcium entry through synaptic NMDA receptors induced CREB activity and brain-derived neurotrophic factor (BDNF) gene expression as strongly as did stimulation of L-type calcium channels. (nih.gov)
Synaptic NMDA receptors have anti-apoptotic activity, whereas stimulation of extrasynaptic NMDA receptors caused loss of mitochondrial membrane potential (an early marker for glutamate-induced neuronal damage) and cell death. (nih.gov)
Peptide-induced modulation of synaptic transmission and escape response in Drosophila requires two G-protein-coupled receptors. (neurotree.org)

Gene ontology and phenotype-genotype analysis suggested that variants in IGF1 , SYP and LAS1L could plausibly confer risk for ASD. (nature.com)
Enrichment analysis was performed by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes. (nature.com)

Cyclin-G-associated kinase (GAK) , a PD susceptibility gene identified through genome-wide association studies (GWAS), is a ubiquitous serine/threonine kinase involved in clathrin uncoating (see Drosophila Clathrin heavy chain ), though its PD-related function remains elusive. (sdbonline.org)
Using the Drosophila nephrocyte as a genetic screen platform, most genes involved in endocytosis and cell trafficking were screened, and the key components were identified of the cell trafficking pathway required for SD protein endocytosis and recycling. (sdbonline.org)
The present study establishes the role of stmA in olfaction, pupal development and synaptic vesicle recycling in Drosophila. (isgpb.org)
Silencing synaptic communication between random interneurons during Drosophila larval locomotion. (neurotree.org)
Role of ATP-dependent calcium regulation in modulation of Drosophila synaptic thermotolerance. (neurotree.org)

RNA-guided Gene Regulation: Structure and. (hhmi.org)
Airavaara M, Pletnikova O, Doyle ME, Zhang YE, Troncoso JC, Liu QR: Identification of novel GDNF isoforms and cis-antisense GDNFOS gene and their regulation in human middle temporal gyrus of Alzheimer disease. (drugbank.com)

We uncovered 17 genes from our ASD cohort in which CHD8 , DYRK1A , GRIN2B , SCN2A , OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. (nature.com)
The Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) Consortium: Assay and Data Generation Centers (RM1) (RFA-MH-24-145). (nih.gov)
While the long-term goal of the SSPsyGene Consortium is to build a comprehensively annotated resource describing the CNS function of all neurodevelopmental and psychiatric disorder risk genes, the current target for the initiative is 100-250 protein coding genes. (nih.gov)
ADGCs supported in Phase 2 of the initiative will be involved in continued efforts to refine and expand the list, as well as developing a rigorous, data-informed approach for selecting patient variants in allelic series from a subset of NPD risk genes. (nih.gov)
SSPsyGene is designed to provide a collaborative and efficient framework for identifying biological function beyond current small-scale and often ad hoc single gene efforts in order to generate a standardized, experimentally derived, functional catalog of NPD risk genes. (nih.gov)

Synaptophysin has four transmembrane domains and it forms a complex with dynamin at high calcium concentrations suggesting an involvement in synaptic vesicle endocytosis. (thermofisher.com)

Membrane potentials, synaptic responses, neuronal circuitry, neuromodulation and muscle histology using the crayfish: student laboratory exercises. (neurotree.org)

Previous studies have shown that 5% to 15% of patients with ASD have inherited copy number variations (CNVs) or de novo CNVs in some affected genes with synaptic function 10 . (nature.com)
We investigate the functional relevance of de novo missense variants, specifically whether they are likely to disrupt protein interactions, and nominate novel genes in risk for ASD through integrated genomic, transcriptomic, and proteomic analyses. (springer.com)

The C2 domain is thought to be involved in calcium-dependent phospholipid binding [ ( PUBMED:8253763 ) ] and in membrane targetting processes such as subcellular localisation. (embl.de)
Voltage-dependent L-type calcium channel subunit alpha-1C or Cav1.2 calcium channel (other names include as CACNA1C, CACH2, CACN2, CACNL1A1, CCHL1A1 ) is a calcium channel encoded by the gene CACNA1C. (antibodiesinc.com)
These calcium channels mediate the influx of calcium ions into a cell upon membrane polarization. (antibodiesinc.com)
Calcium channels are involved in many cell processes including muscle contraction, neurotransmitter release, gene expression, cell division and cell death. (antibodiesinc.com)

While it is anticipated that assays should aim to characterize 100-250 genes, some phenotypes and assay formats may be more amenable to moderate scale screening against a subset (50-100) of the gene set. (nih.gov)

The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. (ageing-map.org)

The goal of this initiative is to fill a very specific knowledge gap area, which is that many protein-coding genes are now associated with NPD risk, but their basic neurobiology remains poorly understood. (nih.gov)
Now a professor and director of the Neuroscience Program at UCSF, Reichardt's laboratory still studies the interface of cell biology and neurobiology, including the involvement of cell adhesion molecules in synaptic development ( 7 ). (rupress.org)

For genes encoding the disrupted interactions, we evaluate their expression patterns across developing brains and within specific cell types, using both bulk and inferred cell-type-specific brain transcriptomes. (springer.com)
Finally, we integrate protein interactions and cell-type-specific co-expression networks together with published association data to implicate novel genes in ASD risk in a cell-type-specific manner. (springer.com)
Their gene expression during brain development and within cell types highlights how they relate to ASD. (springer.com)
Using the newly released and larger ASC dataset, we confirm these observations and take them in several new directions: (1) By defining a set of genes encoding these disrupted protein interactors in ASD subjects and another for their siblings, we evaluate their expression patterns in developing brain from fetal to early postnatal development and within general cell types of brain tissue. (springer.com)
Methylation reprogramming was correlated with increased gene expression variability. (jneurosci.org)
Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). (nih.gov)
The immune-related DEOSGs and hub genes were identified by weighted gene co-expression network analysis (WGCNA) and protein-protein interaction (PPI) analysis, respectively. (nature.com)
The mRNA expression of diagnostic genes was determined by qRT-PCR analysis. (nature.com)
Oxidative stress is involved in the modulation of gene expression patterns and metabolic activities, characterized by the disruption of redox homeostasis 7 . (nature.com)
GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
In melanocytic cells VAT1 gene expression may be regulated by MITF . (wn.com)
Less is known regarding its critical role in neuronal physiology, neuronal metabolism, tissue homeostasis, and the control of gene expression in the central nervous system in healthy and diseased states. (mdpi.com)
In this investigation, we considered the effect of PrP gene knock-out (PrP0/0) on cerebellar neural circuits and in particular on granule cells, which show intense PrP expression during development and selective affinity for PrP. (amrita.edu)
Interestingly, aux depletion causes a dramatic increase in EGFR signaling, with a strong accumulation of EGFR at the plasma membrane and an increased expression of EGFR ligands in response to tissue stress. (sdbonline.org)
Beyond this time, no differences in global gene expression in infected and control animals were detectable by microarray analysis. (biomedcentral.com)
Whereas in the acute phase of the disease immunoregulatory processes prevail in the hippocampus and the cortex, we observed a strong activation of neurogenic processes in the hippocampal dentate gyrus, both by gene expression and immunohistology starting as early as 3 days after infection. (biomedcentral.com)
For this purpose we evaluated the gene expression profile of the two brain structures predominantly affected by brain damage, i.e. the cortex and the hippocampus, at four different stages of the disease in an infant rat model. (biomedcentral.com)

This gene encodes a member of the synaptotagmin protein family. (nih.gov)
Defects in the SNCA gene, which encodes alpha-synuclein, have been implicated in the pathogenesis of Parkinson's disease. (thermofisher.com)
This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. (nih.gov)

The SSPsyGene Consortium aims to produce a systematic annotation of basic neurobiological function of genes associated with risk for neurodevelopmental and psychiatric disorders (NPDs). (nih.gov)
The resulting phenotypic data will be integrated across modalities, levels of organization, and genes to create a harmonized, integrated knowledge base needed to substantively advance our understanding of basic gene function and, ultimately, make robust inferences into potential shared and unique disease mechanisms. (nih.gov)
Loss of function of the Parkin gene (PARK2) leads to impaired mitophagy (destruction of mitochondria by the cell's homeostatic machinery) which produces a buildup of damaged mitochondria. (bmglabtech.com)
The correct levels of these lipids are critical to the stability and function of cell membranes. (medlineplus.gov)
Dason JS , Romero-Pozuelo J, Atwood HL , FerrÃºs A. Multiple roles for frequenin/NCS-1 in synaptic function and development. (neurotree.org)

To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene. (molvis.org)

Mitochondria are organelles enclosed by a double membrane that play a central role in energy production. (bmglabtech.com)

Molecular Mechanisms of Membrane Transporter. (hhmi.org)

L'haploinsuffisance de Syngap1 augmente les niveaux d'activité de la voie Ras-ERKmTOR, une insertion excessive de récepteurs AMPA à la membrane postsynaptique des neurones excitateurs et affecte la morphologie des épines dendritiques. (umontreal.ca)

It alters membrane phospholipid levels and affects visual transduction. (isgpb.org)

A pseudogene of this gene has been defined on chromosome 1. (nih.gov)

1 This high frequency, as well as clinical, genetic, and recent molecular findings, indicate that there are numerous X linked genes which control the development of the central nervous system as well as its cognitive and adaptive functioning. (bmj.com)

Structural membrane biochemistry and method. (hhmi.org)

Researchers speculate that such an impairment alters the balance of lipids in the cell membrane. (medlineplus.gov)

Modeling biological membranes with circuit boards and measuring electrical signals in axons: student laboratory exercises. (neurotree.org)

Investigation of hub genes for the development of potential therapeutic targets and candidate biomarkers is warranted. (nature.com)

Multiple alternatively spliced transcripts encoding different isoforms have been identified for this gene. (thermofisher.com)
The somato-dendritic localization of Nav1.1 and Nav1.6 in Purkinje cells suggests that these isoforms are involved in the integration of synaptic input. (nih.gov)

Frequenin/NCS-1 and the Ca2+-channel alpha1-subunit co-regulate synaptic transmission and nerve-terminal growth. (neurotree.org)
Romero-Pozuelo J, Dason JS , Atwood HL , FerrÃºs A. Chronic and acute alterations in the functional levels of Frequenins 1 and 2 reveal their roles in synaptic transmission and axon terminal morphology. (neurotree.org)

Across cell types, these genes affect neuronal morphogenesis and neuronal communication, while neural progenitor cells show strong enrichment for development of the limbic system. (springer.com)
C2 domains are unique among membrane targeting domains in that they show wide range of lipid selectivity for the major components of cell membranes, including phosphatidylserine and phosphatidylcholine. (embl.de)
NTE is also thought to play a role in the release of hormones from the pituitary gland, a process that requires particular changes in the cell membrane. (medlineplus.gov)
Baecker PA, Lee WH, Verity AN, Eglen RM, Johnson RM: Characterization of a promoter for the human glial cell line-derived neurotrophic factor gene. (drugbank.com)
In Professor Naviaux's theory, the ATP leak is from the cell membrane, like the outer wall of the cell. (epiphanyasd.com)
When examined in cross-section, a typical muscle cell reveals between 4 and 6 nuclei, which lie just underneath the plasma membrane of the muscle fiber, the sarcolemma. (medscape.com)

We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with various neurological disorders. (bvsalud.org)

Understanding the mechanism of response of missing SynGAP1 can inform directed therapies and interventions to treat patients with the missing gene and manage their intellectual disability. (iupui.edu)
Dans les modèles de souris, les déficits cognitifs sont dus en partis à la réduction de l'expression de SYNGAP1 dans la circuiterie GABAergique. (umontreal.ca)
Nos résultats suggèrent que les mécanismes d'haploinsuffisance de Syngap1 sont en partie similaire dans les interneurones GABAergiques que dans les neurones glutamatergiques. (umontreal.ca)

Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). (springer.com)

Predicted to be located in plasma membrane. (zfin.org)

Homozygous mutation of this gene results in a 70% reduction in the mixed lymphocyte response in LPS- and dextran sulfate-stimulated B cells. (jax.org)

Anatomy19

Organisms6

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment7

Phenomena and Processes16

Technology, Industry, Agriculture5

Information Science2

Plasticity5

Proteins14

Vesicle membrane protein2

Exocytosis2

Neurons5

Mutations19

Postsynaptic membrane2

Vesicles3

Post-synaptic density1

Neuron5

Excitatory3

Receptors3

Ontology2

Drosophila5

Regulation2

Risk genes5

Endocytosis1

Potentials1

Novo2

Calcium4

Phenotypes1

Integral1

Neurobiology2

Expression17

Encodes3

Function5

Involvement1

Mitochondria1

Mechanisms1

AMPA1

Phospholipid1

Chromosome1

Molecular1

Structural1

Alters1

Biological1

Investigation1

Isoforms2

Transmission2

Cell6

Variants1

SynGAP13

Autism1

Plasma1

Mutation1