Lysosomal-associated membrane protein 1 (LAMP-1) also known as lysosome-associated membrane glycoprotein 1 and CD107a (Cluster of Differentiation 107a), is a protein that in humans is encoded by the LAMP1 gene. (wikipedia.org)
ITI-3000 programme leverages Immunomic Therapeutics' investigational UNiversal Intracellular Targeted Expression (UNITE) platform, which is powered by LAMP (Lysosome Associated Membrane Protein) that fuses sequences from the mutated form of MCPyV's large T antigen (LT) into the LAMP-1 gene sequence. (pharmaceutical-business-review.com)
In addition to elevated surface Lamp1 (lysosome-associated membrane protein 1) expression, we also observed enhanced secretion of lysosomal components-phenotypes that we subsequently observed in C9orf72 loss-of-function macrophages. (elsevierpure.com)
LAMPA1
The D13S25/LAMP1 FISH Probe Kit is designed to detect the human D13S25 STS marker region located on chromosome band 13q14.3 and the LAMP1 gene - also known as CD107a , LAMPA , or LGP120 - on chromosome band 13q34. (diagnostictechnology.com.au)
Mutations11
Deficiency or absence of alpha-galactosidase A (α-GAL A) activity as a result of gene mutations in the GLA gene (Xq21.3-q22) leads to lysosomal accumulation of neutral glycosphingolipids, most notably globotriaosylceramide (G3b). (medscape.com)
More than 370 gene mutations have been identified in people with Fabry disease. (medscape.com)
Danon disease is caused by mutations in the LAMP2 gene. (medlineplus.gov)
Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. (medlineplus.gov)
Inclusion body myopathy associated with Paget's disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin containing protein (VCP) gene. (escholarship.org)
Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance. (elsevierpure.com)
At least 40 disease-causing mutations in the neuraminidase 1 ( NEU1 ) gene have been reported. (medscape.com)
Sialidosis should not be confused with disorders of free sialic acid storage, which are caused by a defect in the lysosomal transport of free sialic acid due to mutations in the AST (anion and sugar transporter) gene. (medscape.com)
Overlap exists with Congenital Muscular Dystrophy (CMD) as several gene mutations can cause both a LGMD and CMD phenotype. (medscape.com)
These diseases are discussed here in part because mutations in 2 genes can present with either an LGMD or a myofibrillar myopathy phenotype. (medscape.com)
TSC is caused by inactivating mutations in the genes encoding TSC1/2, negative regulators of the mammalian target of rapamycin complex 1 (mTORC1). (wustl.edu)
Lysosomal membrane proteins3
poly-N-acetyllactosamine groups which are involved in interactions with selectin and other glycan-binding proteins LAMP1 and LAMP2 glycoproteins comprise 50% of all lysosomal membrane proteins, and are thought to be responsible in part for maintaining lysosomal integrity, pH and catabolism. (wikipedia.org)
Suppression of hVps34 expression reduced the cellular growth rate and caused a striking accumulation of large acidic phase-lucent vacuoles that contain lysosomal membrane proteins LAMP1 and LGP85. (utoledo.edu)
Lysosomal membrane proteins Lamp1 and Lamp2 show increased molecular weights in patients' myoblasts due to differential N-glycosylation. (escholarship.org)
CD107a3
The unconjugated antibody detects human LAMP1/CD107a Lumenal Domain in direct ELISAs and Western blots. (rndsystems.com)
LAMP1/CD107a was detected in formaldehyde fixed HeLa human cervical epithelial carcinoma cell line using Sheep Anti-Human LAMP1/CD107a Alexa Fluor® 488‑conjugated Antigen Affinity-purified Polyclonal Antibody (Catalog # IC7985G) at 1:10 dilution for 3 hours at room temperature and counterstained with DAPI (blue). (rndsystems.com)
The expression of LAMP1 and LAMP2 glycoproteins are linked, as deficiencies in LAMP1 gene will lead to increased expression of LAMP2 glycoproteins. (wikipedia.org)
However, this makes the determining the precise function of LAMP1 difficult, because while the LAMP1 deficient phenotype is little different than the wild type due to LAMP2 up regulation, the LAMP1/LAMP2 double deficient phenotype leads to embryonic lethality. (wikipedia.org)
Cell surface expression of LAMP1 and LAMP2 is also often seen in cancer cells, particularly cancers with high metastatic potential, such as colon carcinoma and melanoma, and has been shown to correlate with their metastatic potential. (wikipedia.org)
Indeed, the adhesion of some cancer cells to the extracellular matrix is mediated by interactions between LAMP1 and LAMP2 and E-selectin and galectins, with the LAMPs serving as ligands for the cell-adhesion molecules. (wikipedia.org)
The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes . (medlineplus.gov)
Proteins2
Explore our solutions for multiple applications - vaccines, monoclonal antibodies, recombinant proteins, cell or gene therapy. (vwr.com)
The defective autophagic degradation of glycogen is associated with abnormal ubiquitination and degradation of essential proteins of the autophagy-lysosome pathway, such as LC3 and lysosomal associated membrane protein 1 and 2 (LAMP1/2) and is restored by the combined use of mTORC1 and Akt pharmacological inhibitors. (wustl.edu)
Vacuoles1
LAMP1-positive vacuoles were depleted of PtdIns(3)P in the hVps34-knockdown cells, as judged by their inability to bind the PtdIns(3)P probe GFP-2xFYVE. (utoledo.edu)
Recombinant2
In direct ELISAs, less than 1% cross-reactivity with recombinant mouse LAMP1 is observed. (rndsystems.com)
Nucleoside sequencing of the entire GLA gene has enabled theoretical treatment of Fabry disease using recombinant technology. (medscape.com)
Antibody1
Improved gene manifestation of and correlated with decreased HDAC3 occupancy and improved histone H4 lysine 8 (H4K8) acetylation LAMP1 antibody at their promoters. (healthandwellnesssource.org)
Expression29
Expression of LAMP1 at the cell surface can occur due to lysosomal fusion with the cell membrane. (wikipedia.org)
Cell surface expression of LAMP1 can serve as a ligand for selectins and help mediate cell-cell adhesion. (wikipedia.org)
Accordingly, cell surface expression of LAMP1 is seen in cells with migratory or invasive functions, such as cytotoxic T cells, platelets and macrophages. (wikipedia.org)
LAMP1 expression on the surface of tumor cells has been observed for a number of different cancer types, particularly in highly metastatic cancers such as pancreatic cancer, colon cancer and melanoma. (wikipedia.org)
Genome-wide transcriptional profiling using RNA-Seq revealed few age-related changes in gene expression in muscle and esophagus tissue. (nature.com)
In contrast, radial nerve showed an unexpected level of complexity with the expression of 3,370 genes significantly altered more than two-fold with age, including genes involved in nerve function, signaling, metabolism, transcriptional regulation and chromatin modification. (nature.com)
There was an age-related upregulation in expression of genes involved in synaptogenesis, axonogenesis and neuroprotection suggesting preservation of neuronal processes with age. (nature.com)
This unique age-related gene expression profile in the red sea urchin nervous system may play a role in mitigating the detrimental effects of aging in this long-lived animal. (nature.com)
Gene expression is a key determinant of cellular phenotype, and genome-wide expression analysis can provide insight into the molecular events underlying complex processes such as aging. (nature.com)
Age-related gene expression profiles of the short-lived model animals Caenorhabditis elegans and Drosophila melanogaster share a common adult-onset expression program of genes involved in mitochondrial metabolism, DNA repair, catabolism, peptidolysis and cellular transport 3 . (nature.com)
The reduced expression of genes involved in mitochondrial oxidative respiration occurs in early adulthood, before the onset of functional decline, and more abruptly than a damage-response model would predict, which supports the possibility of programmed age-related transcriptional regulation 3 . (nature.com)
Gene expression profiles in animals that exhibit slow aging or negligible senescence may reveal distinct insight into potential mechanisms involved in long-term maintenance of tissues and healthy aging. (nature.com)
Few genes show differential expression with age in tissues (brain, liver and kidney) of naked mole rats and, contrary to other mammals and short-lived model animals, mitochondrial gene expression does not change with age 13 . (nature.com)
Gene expression stability during aging was also observed in tissues of the long-lived giant mole-rat ( Fukomys mechowii ) with a maximum lifespan of more than 20 years 14 . (nature.com)
Transcription factor EB (TFEB), a master transcriptional regulator of autophagy, enhances gene expression that controls autophagosome formation, lysosome function, and autophagic flux. (biomedcentral.com)
mice show significantly enhanced CPP acquisition which correlates with increased gene expression during the consolidation phase of acquisition. (healthandwellnesssource.org)
i) partial deletion of the exons 4 and 5 region of TYR that is homologous with TYRL and (ii) variations in the polymorphic GA complex repeat located between distal and proximal elements of the human TYR promoter that can modulate the expression of the gene leading to disease pathogenesis. (elsevierpure.com)
As part of the civil aviation safety program to define the adverse effects of ethanol on flying performance, we performed a DNA microarray analysis of human whole blood samples from a five-time point study of subjects administered ethanol orally, followed by breathalyzer analysis, to monitor blood alcohol concentration (BAC) to discover significant gene expression changes in response to the ethanol exposure. (biomedcentral.com)
The amplified cDNA was used in microarray and quantitative real-time polymerase chain reaction (RT-qPCR) analyses to evaluate differential gene expression. (biomedcentral.com)
Candidate genes showing distinctive expression patterns in response to ethanol were clustered by pattern and further analyzed for related function, pathway membership and common transcription factor binding within and across clusters. (biomedcentral.com)
Microarray analysis of samples representing 0%, 0.04%, 0.08%, return to 0.04%, and 0.02% wt/vol BAC showed that changes in gene expression could be detected across the time course. (biomedcentral.com)
The candidate genes of interest (GOI) identified from the microarray analysis and clustered by expression pattern across the five BAC points showed seven coordinately expressed groups. (biomedcentral.com)
The results of this study provide a first look at changing gene expression patterns in human blood during an acute rise in blood ethanol concentration and its depletion because of metabolism and excretion, and demonstrate that it is possible to detect changes in gene expression using total RNA isolated from whole blood. (biomedcentral.com)
The analysis approach for this study serves as a workflow to investigate the biology linked to expression changes across a time course and from these changes, to identify target genes that could serve as biomarkers linked to pilot performance. (biomedcentral.com)
As part of civil aviation safety research into aeromedical factors impacting flight safety, we have undertaken a time course study on the effects of acute ethanol exposure to the legal intoxication level of blood alcohol concentration (BAC), 0.08 g/dL (0.08% wt/vol), on human gene expression in non-chronic users. (biomedcentral.com)
This is a novel study to identify gene expression patterns in whole blood messenger RNA and discover biomarkers linked to BAC. (biomedcentral.com)
The inhibition of Rab10 and LRRK2 activates a higher expression of the LAMP1 protein. (haliatx.com)
In the first stage of weight problems induced by HFD, raised free of charge essential fatty acids will be the initial stimulus for adipocyte hypertrophy and MHCII-related gene upregulation, possibly via activation of JNK and STAT1, which Purpureaside C may further activate CIITA, a prime regulator of MHCII expression (103, 104). (exposed-skin-care.net)
Correlates1
The structure of LAMP1 correlates with differentiation and metastatic potential of tumor cells as it is thought to help mediate cell-cell adhesion and migration. (wikipedia.org)
Vesicles1
By contrast, LAMP1-negative vesicles continued to bind GFP-2xFYVE in the knockdown cells. (utoledo.edu)
Regulation1
TGFβ-1 induced morphological and functional changes of cells are the result of substantial gene regulation and protein alterations leading to: loss of epithelial cell-cell adhesion and apical-basolateral polarity, change of differentiation markers, acquisition of fibroblastoid shape, reversion of intermediate filaments, gain of cell motility and increased extracellular proteolysis [ 3 ]. (biomedcentral.com)
Lysosomes1
Conjugated LAMP1 antibodies are ideal for immunocytochemistry colocalization studies in lysosomes. (rndsystems.com)
Expresses1
The astrocyte population resides close to the meninges (the membrane enclosing the brain) and expresses a protein called LAMP1, along with a protein called TRAIL, which can induce the death of other cells. (nutritionfit.org)
Pathways1
This study utilizes small interfering (si)RNA-mediated gene silencing to define the specific trafficking pathways in which hVps34 functions in human U-251 glioblastoma cells. (utoledo.edu)
Brain2
Researchers took to social media to discuss a new tool for recording brain activity in freely moving mice and a study linking a mutation in the gene MBD5 to epilepsy and intellectual disability. (spectrumnews.org)
To determine what mechanism controls LAMP1+TRAIL+ astrocytes in the brain, the researchers performed a series of tests using the gene-editing tool CRISPR-Cas9. (nutritionfit.org)
Inflammation1
These features help the LAMP1+TRAIL+ astrocytes limit CNS inflammation by inducing cell death in T-cells that promote inflammation. (nutritionfit.org)
Human4
The human LAMP1 gene is located on the long arm (q) of chromosome 13 at region 3, band 4 (13q34). (wikipedia.org)
Mature human LAMP1 is a 389 amino acid (aa) type I transmembrane glycoprotein. (rndsystems.com)
Over aa 28‑380, human LAMP1 shares 64% aa identity with mouse LAMP1. (rndsystems.com)
In-vitro experiments were carried out using human neuroblastoma (N2A) cell lines transfected with a mammalian plasmid to overexpress the APP gene and the immortalized microglia HMC3 cell line. (haliatx.com)
Interactions2
Only PPP2R1A-interacting genes and only the most-mentioned/most-curated interactions are shown in the graph. (ucsc.edu)
Please see the Gene Interactions Track Manual . (ucsc.edu)
Show1
The identified rare variants in the RAB10 gene show protective effects against developing AD. (haliatx.com)
Chromosome1
This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. (creativebiomart.net)
Diseases1
Understanding the mechanisms driving the anti-inflammatory functions of LAMP1+TRAIL+ astrocytes could enable researchers to develop therapeutic approaches to combat neurological diseases, like multiple sclerosis. (nutritionfit.org)
Cells2
TMEM240 gene manipulation, viability, migration assays, RNA-seq, and MetaCore were performed to determine its biological functions and relationship to hormone drug treatment response in breast cancer cells. (bvsalud.org)
Evaluation of Stable LifeAct-mRuby2- and LAMP1-NeonGreen Expressing A549 Cell Lines for Investigation of Aspergillus fumigatus Interaction with Pulmonary Cells. (fhg-tirol.ac.at)
Mutation1
In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
Disease3
The Fabry disease gene is now known as the GLA gene, which stands for alpha-galactosidase. (medscape.com)
2011 treated with adeno-associated disease expressing Cre recombinase (AAV-Cre) to generate NAc-specific deletions of in adult mice and examine the effect on histone aceytlation gene manifestation and cocaine-induced CPP. (healthandwellnesssource.org)
Defects in the SNCA gene, which encodes alpha-synuclein, have been implicated in the pathogenesis of Parkinson's disease. (thermofisher.com)
Functional1
This presentation will cover our recent developments in EV engineering, with focus on active loading and functional delivery of gene editing modalities. (selectbiosciences.com)
Details1
Mouse over or click genes or lines for details. (ucsc.edu)
Interest1
focusing on these in proximity of some genes of interest. (bioinfoexpert.com)
Band1
The GLA gene is located at band Xq22. (medscape.com)