Variants glycogen synthase kinase 3. Medical search. Frequent questions

It is also predicted that p38 mitogen-activated protein kinases and glycogen synthase kinase 3 bind at position T3, and casein kinase 2 binds at positions S13 and T50. (wikipedia.org)

However, unlike the canonical regulation of β-catenin via glycogen synthase kinase 3β (GSK3β)-dependent degradation, GSK3β expression and phosphorylation were unaltered during hyperammonemia, and depletion of GSK3β did not prevent ammonia-induced degradation of β-catenin. (nih.gov)
and is constitutively active in resting cells, inhibiting glycogen synthase by direct phosphorylation. (justia.com)
The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. (nih.gov)

Overexpression of GSK3β-resistant variants, genetic depletion of IκB kinase β (IKKβ) (activated during hyperammonemia), protein interactions, and in vitro kinase assays showed that IKKβ phosphorylated β-catenin directly. (nih.gov)
In vitro kinase assays showed that TaSK1 and TaSK2 possessed kinase activity. (biomedcentral.com)

Inhibitors of Glycogen Synthase Kinase 3 with Exquisite Kinome-Wide Selectivity and Their Functional Effects. (broadinstitute.org)
The invention provides materials and methods relating to identification and optimization of selective inhibitors of glycogen synthase kinase 3 (GSK3), and also relates to methods of treating a condition mediated by GSK3 activity. (justia.com)
Receptor tyrosine kinase inhibitors for the treatment of osteosarcoma and Ewing sarcoma. (dukecancerinstitute.org)

Glycogen synthase kinase 3 (GSK-3) / SHAGGY kinase (SGG) are multifunctional non receptor serine/threonine kinases. (biomedcentral.com)
Such radiations include genes involved in spermatogenesis, chemosensation, Wnt signaling and FGF receptor-like kinases. (wormbook.org)
The signaling pathways involving glycogen synthase kinase 3 (GSK-3), nucleotide oligomerization domain-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome, and nuclear factor κB (NF-κB) [ 9 , 10 ] may provide useful footprints and molecular pathways shared by MS and DM. (jrmds.in)
GSK3 is inactivated by other growth factors or hormones that, like insulin, signal through receptor tyrosine kinases. (justia.com)
This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). (cancerindex.org)
A gene expression array showed significantly increased expression of CCR3, a receptor of eotaxin-3, in PC-3. (cancerindex.org)
Glioblastoma (GBM), a very aggressive and incurable tumor, often results from constitutive activation of EGFR (epidermal growth factor receptor) and of phosphoinositide 3-kinase (PI3K). (sdbonline.org)
Prostaglandin E2 (PGE2) receptor 3 (EP3) regulates tumor cell proliferation, migration, and invasion in numerous cancers. (oncotarget.com)

In humans and animals, GSK-3/SGG are key regulators of a broad range of signaling pathways and their dysregulation responsible for a number of diseases or developmental abnormalities, both aspects abundantly documented in the literature. (biomedcentral.com)
SGG/GSK-3 are a master switch in the Wnt/Wingless(Wg) pathways and are involved in fundamental developmental processes in animals such as cell fate specification, pattern formation and body axis formation [ 2 , 6 , 7 ]. (biomedcentral.com)
Protein kinases are one of the largest and most influential of gene families: constituting some 2% of the proteome, they regulate almost all biochemical pathways and may phosphorylate up to 30% of the proteome. (wormbook.org)
By phosphorylating substrate proteins, kinases modify the activity, location and affinities of up to 30% of all cellular proteins, and direct most cellular processes, particularly in signal transduction and co-ordination of complex pathways. (wormbook.org)
Many of these pathways are highly conserved, and 53 distinct kinase functions and subfamilies appear to have been conserved between yeasts, nematodes, insects and vertebrates, with a further 91 subfamilies of kinases being seen throughout metazoan genomes. (wormbook.org)
A growing body of literature data indicate that Alzheimer's disease (AD) is type 3 diabetes due to the ability of DM to trigger AD development, in addition to the multiple molecular pathways shared by the two diseases [ 6 ]. (jrmds.in)
Though several pathways have been suggested to mediate DM-associated neuroinflammation and MS molecular pathogenesis [ 9 ], GSK-3 appears to be an integral culprit that triggers neuroinflammation observed in both diseases [ 10 ]. (jrmds.in)
Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect common biological pathways. (biomedcentral.com)

A further 91 subfamilies were found in all three metazoan kinomes, including the tyrosine kinase (TK) group and the TKL group, which mediate much of the complexity of intercellular signal transduction. (wormbook.org)
FES proto-oncogene, tyrosine kinase [S. (gsea-msigdb.org)

LKB1 itself is a constitutively active kinase, which is regulated by posttranslational modifications and direct binding to phospholipids of the plasma membrane. (sdbonline.org)

Protein kinases constitute one of the largest and most important of protein families, accounting for ~2% of genes in a variety of eukaryotic genomes. (wormbook.org)
We identified 438 protein kinase genes, including 20 atypical kinases, and an additional 25 kinase fragments or pseudogenes. (wormbook.org)
The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
The discovery of the antioxidant response element (ARE) have led to the conclusion that the battery of genes, including glutamate-cysteine ligase (GCL), thioredoxin reductase 1 (Txnrd1), NAD(P)H-quinone oxidoreductase 1 (NQO1) and heme oxygenase-1 (HMOX1) is regulated through Nrf2 binding to this consensus binding sequence [ 3 ]. (springer.com)
Genes & Development 21 (3): 316-331. (mdc-berlin.de)

Most protein kinases share a common ePK (eukaryotic protein kinase) catalytic domain, and can be identified by sequence similarity with Blast or profile hidden Markov models (HMMs). (wormbook.org)

Glycogen synthase kinase 3 (GSK3) is a proline-directed serine/threonine kinase originally identified as an activity that phosphorylates glycogen synthase as described in Woodgett, Trends Biochem Sci 16:177-181 (1991). (justia.com)
Upon insulin activation, GSK3 is inactivated, thereby allowing the activation of glycogen synthase and possibly other insulin-dependent events. (justia.com)
SAK3 also restored the Brain-derived neurotrophic factor/protein kinase B/Glycogen Synthase Kinase 3 Beta (BDNF/AKT/GSK3β) signaling axis in TAF1 edited animals. (nyu.edu)

Interestingly, there also is a GSD type 0, which is due to defective glycogen synthase. (medscape.com)

The regulation of SGG/GSK-3 represents a conserved strategy during evolution for establishing embryonic polarity of both invertebrate and vertebrates. (biomedcentral.com)
Accumulating evidences strongly indicate that activation of certain genetic variants of GSK-3, which is also involved in regulation of insulin signaling [ 10 ], can mediate the onset of MS. Being the most characterized inflammasome, NLRP3 promote infections and autoimmune disorders by enhancing the maturation of the pro-inflammatory cytokines by responding to pathogenic stimuli. (jrmds.in)

It phosphorylates and activates several downstream kinases, including AMP-dependent kinase, AMPK . (sdbonline.org)

In vitro, the upregulation of MIR34A together with the downregulation of HK1 inhibits the proliferation, induces the apoptosis of SRA01/04 cells, and accelerates the opacification of mouse lenses via the HK1/caspase 3 signaling pathway. (bvsalud.org)
In summary, our study demonstrates that MIR34A modulates lens epithelial cell (LEC) apoptosis and cataract development through the HK1/caspase 3 signaling pathway. (bvsalud.org)

Kinases are deeply conserved in evolution, and the worm has family homologs for over 80% of the human kinome. (wormbook.org)
Nematodes share 153 subfamilies with human, providing close homologs for 81% (419/518) of all human kinases. (wormbook.org)

Von Gierke disease (GSD type Ia and Ib) was first reported in 1929 based on the autopsy findings in 2 children who had excessive hepatic and renal glycogen accumulation. (medscape.com)

This study reports that LKB1 binds to Phosphoinositide-dependent kinase (PDK1) by a conserved binding motif. (sdbonline.org)

Polymorphisms in the gene encoding the microtubule-associated proteins tau (MAPT) promote tau proteins hyperphosphorylation which leads to microtubule destabilization resulting in neurofibrillary degeneration [2,3,23,25]. (memorial2014.com)

MiRNA usually binds directly to the 3′-untranslated region (3′-UTR) of target gene mRNA through the RNA-induced silencing complex (RISC) [ 15 , 16 ]. (ersjournals.com)

This makes kinase signaling particularly amenable to comparative studies, and kinase activity a particularly good readout of the physiological state of any cell. (wormbook.org)
Additionally, we detected increased levels of active glycogen synthase kinase 3 β, a physiological kinase of TAU, in neurons derived from AD iPSCs, as well as significant upregulation of amyloid precursor protein (APP) synthesis and APP carboxy-terminal fragment cleavage. (biomedcentral.com)

Alveolar type II (ATII) epithelial cells synthesize, secrete and recycle all components of surfactant and dysfunction in surfactant metabolism can result in a variety of pediatric lung diseases including respiratory distress syndrome and interstitial lung disease 3 . (nature.com)
Glycogen storage diseases (GSDs) are inherited disorders due to enzymatic defects that prevent breakdown of stored glycogen into glucose. (medscape.com)
Glycogen storage diseases ( GSD ) are a group of inherited autosomal recessive disorders caused by genetic mutations that lead to the inability to breakdown and metabolize glycogen into glucose. (medscape.com)
Most patients experience muscle symptoms, such as weakness and cramps, although certain glycogen storage diseases manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly. (medscape.com)

This results in glycogen accumulation in tissues, especially muscles, and impairs their ability to function normally. (medscape.com)
Enzyme deficiency results in glycogen accumulation in tissues. (medscape.com)

Lee, YJ & Kim, YK 2011, ' The impact of glycogen synthase kinase 3β gene on psychotic mania in bipolar disorder patients ', Progress in Neuro-Psychopharmacology and Biological Psychiatry , vol. 35, no. 5, pp. 1303-1308. (korea.ac.kr)

Transcript variants Many transcript variants exist for WWC2. (wikipedia.org)
This gene has 1 transcript ( splice variant ). (ensembl.org)
Alternatively spliced transcript variants have been described. (cancerindex.org)

Although 4 other cases were reported of excess glycogen storage in the livers of autopsy patients, it was not until 1978 when Narisawa et al were able to differentiate GSD type Ia and type Ib, recognizing type Ia was due to a deficiency in the G6Pase enzyme, and type Ib was due to deficiency in the G6P transporter. (medscape.com)

The master kinase LKB1 is a key regulator of several cellular processes, including cell proliferation, cell polarity and cellular metabolism. (sdbonline.org)

The classification is based on sequence similarity within the kinase domain, the presence of additional domains, known biological functions, and conservation across divergent genomes. (wormbook.org)
The classification of each worm kinase is given in Appendix A. (wormbook.org)

For instance, some studies have suggested that in addition to antioxidant enzymes, nitric oxide synthases (NOSs), and other traditional enzymes, novel molecular targets such as mitochondria-targeting hydrogen sulfide (H 2 S) donor AP39 and its auxiliary targets have recently been identified as critical participants in H 2 S synthesis for modulating the postischemic cardiomyocyte survival in a manner independent of classical cytosolic signaling mechanisms [ 7 , 8 ]. (hindawi.com)

Functional implications of a psychiatric risk variant within CACNA1C in induced human neurons. (broadinstitute.org)
To put worm kinases into an evolutionary and functional context, we compared them with the distant kinomes of human, fly, and yeast. (wormbook.org)

The enzymes affected normally catalyze reactions that ultimately convert glycogen compounds to monosaccharides, of which glucose is the predominant component. (medscape.com)

All sequences and supporting data are available at http://kinase.com , and all but 8 sequences are now identical to wormpep (v. 141) sequences. (wormbook.org)

abstract = "Objective: The aim of this study was to examine the relationships between glycogen synthase 3β gene polymorphisms and bipolar I disorder, manic in a Korean sample. (korea.ac.kr)

Contact with these chemicals altered the enzymatic activities of cyclin-dependent kinase 5 and glycogen synthase kinase 3 beta, and protein phosphatase-2A. (researcher.life)

The remaining atypical protein kinases (aPK) belong to several families, some of which have structural, but not sequence similarity to ePKs. (wormbook.org)

Patients with one or two truncation variants tend to have multisystem symptoms compared with those with two missense variants. (bvsalud.org)
It was widely believed that CNS symptoms resulting from uncontrolled DM are due to the hyperglycemic effects on the brain [ 3 ]. (jrmds.in)

Furthermore, a PDK1-consensus motif is located within the kinase domain of LKB1 and LKB1 gets phosphorylated by PDK1 in vitro. (sdbonline.org)

Reviewing all reported patients with LSS variants indicated that p.W629 might be a hotspot for hypospadias and p.I342S was associated with congenital cataract. (bvsalud.org)
Currently, there is no cure for AD, and the available medications can only slow down the progression of dementia and slightly improve the quality of life of the patients [ 3 ]. (biomedcentral.com)
Vitamin B deficit in AD patients reduces methylation of the glycogen synthase kinase 3 gene (gene haplotypes are among the most reliable biomarkers for AD diagnosis, information available about the epigenetic modulation of this gene is scarce. (memorial2014.com)
Some studies suggest that the C T transition in the 3-CpG island, which is specific of expression in AD patients [18,71,90]. (memorial2014.com)
The FDA has approved the lysosomal glycogen-specific enzyme alglucosidase alfa ( Lumizyme ) for the treatment of infantile-onset Pompe disease, including in patients younger than age 8. (medscape.com)

Serum insulin-like growth factor (IGF)-I and IGF-binding protein-3 concentrations and prostate cancer risk: results from the European Prospective Investigation into Cancer and Nutrition. (mdc-berlin.de)

A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity. (broadinstitute.org)
In Hydra , inhibition of activity of the HyGSK-3 confers characteristics of the head organizer to the body column resulting in the differentiation of ectopic heads and tentacles on the body column [ 11 ]. (biomedcentral.com)

Severe distortion of airway smooth muscle cells (ASMCs) is a common consequence of severe asthma [ 3 ]. (ersjournals.com)
Mesenchymal stem cells up-regulate the invasive potential of prostate cancer cells via the eotaxin-3/CCR3 axis. (cancerindex.org)
In a matrigel invasion assay, interferon-gamma, a specific inhibitor of eotaxin-related homing, significantly reduced the transmigration of PC-3 cells, under co-cultured condition with MSCs, in a dose-dependent manner (P (cancerindex.org)
They are 3-dimensional, complex, multicellular structures that can be derived from patient specific human induced pluripotent stem cells (hiPSCs). (nature.com)
Infection of iPSCs with lentiviral inserts is a highly efficient process since stem cells grow quickly, remain undifferentiated in specific cell culture conditions and can establish fully infected clones within 2-3 passages. (nature.com)

Ventral injection of a catalytically inactive form of GSK-3β in Xenopus laevis embryos results in the induction of dorsal development and differentiation of ectopic supernumerary body axes indicating that GSK-3 regulates the dorso-ventral plan formation [ 10 ]. (biomedcentral.com)

These findings deepen the understanding of LSS variants and contribute to the genetic counseling of affected families. (bvsalud.org)

Since kinases perform such a variety of distinct basic cellular functions, it is not surprising to see that 53 subfamilies and functions are present in all four kinomes ( Figure 1 ). (wormbook.org)

Distribution of 212 kinase subfamilies throughout four kinomes: the yeast Saccharomyces cerevisiae , the nematode worm Caenorhabditis elegans , the fruit fly Drosophila melanogaster and human. (wormbook.org)

The gain and loss of kinase functions and subfamilies in each evolutionary lineage is also seen. (wormbook.org)

Here, we tested the efficacy of SAK3 (ethyl 8′-methyl-2′, 4-dioxo-2-(piperidin-1-yl)-2′H-spiro [cyclopentane-1, 3′-imidazo [1, 2-a] pyridine]-2-ene-3-carboxylate), a T-type calcium channel enhancer, in an animal model of TAF1 intellectual disability (ID) syndrome. (nyu.edu)

This chapter will introduce the diversity of kinases in C. elegans , and compare them to those of fungi and other metazoans, as well as to preliminary results from analysis of the C. briggsae kinome. (wormbook.org)
The resultant inability to breakdown glycogen results in excessive buildup of glycogen in organs responsible for gluconeogensis and glycogenolysis, most importantly the liver and kidneys. (medscape.com)

Plant Glycogen Synthase Kinase 3/ SHAGGY-like kinases (GSKs) have been implicated in numerous biological processes ranging from embryonic, flower, stomata development to stress and wound responses. (biomedcentral.com)

The biallelic pathogenic variants in the LSS gene were found in congenital cataract, Alopecia-intellectual disability syndrome, hypotrichosis simplex, and mutilating palmoplantar keratoderma. (bvsalud.org)

Cancer was also reported to be the second most common cause of death for people with T1DM ( 3 ). (frontiersin.org)

Anatomy27

Organisms9

Diseases5

Chemicals and Drugs153

Analytical, Diagnostic and Therapeutic Techniques and Equipment16

Psychiatry and Psychology1

Phenomena and Processes43

Disciplines and Occupations1

Information Science3

Mitogen-activat1

Phosphorylation3

Vitro kinase assays showed2

Inhibitors3

Receptor8

Pathways8

Tyrosine kinase2

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Genes5

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GSK33

Defective1

Regulation2

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Gierke1

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Proteins1

Binds1

Physiological2

Diseases4

Accumulation2

Bipolar Disorder1

Transcript3

Deficiency1

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Classification2

Molecular1

Functional2

Enzymes1

Sequences1

Abstract1

Enzymatic1

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Symptoms2

Motif1

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