Gene cathepsin d. Medical search. Frequent questions

In the second chapter, we reported the analysis of two new SNPs identified in cathepsin L (CTSL) and cathepsin S (CTSS) genes and the association results with meat quality parameters (including cathepsin B activity) and several production traits in an Italian Large White pig population. (unibo.it)
Wang and colleagues focused on a protease - an enzyme that breaks down protein - called cathepsin L, or CTSL. (wraltechwire.com)
Applying CRISPR technology - basically turning down genes to knock out certain misfunctions or, in this case, the function of CTSL - Wang's team created a way to safely initiate CTSL inhibition. (wraltechwire.com)

The protein encoded by this gene is a cysteine cathepsin, a lysosomal cysteine protease important in the overall degradation of lysosomal proteins. (wikipedia.org)
Of the 11 genes mapped to this 300kb interval, cystatin E/M, a cysteine protease inhibitor, seemed to be a potential candidate due to reports of its involvement in breast cancer. (uclahealth.org)

However, several authors have demonstrated that high cathepsin activity, in particular of cathepsin B, is correlated to defects of these products, such as an excessive meat softness together with abnormal free tyrosine content, astringent or metallic aftertastes and formation of a white film on the cut surface. (unibo.it)
Therefore, low cystatin C (high cathepsin B) and/or high cystatin C (low cathepsin B) levels can be regarded as a potential marker for hepatitis B. Hepatitis C infected patients showed high gene expression of cystatin C and leptin, so they could be useful markers for the diagnostics and prediction of the severity of HCV infections. (elis.sk)

We previously found that a transcription factor, FOXO1 gene expression, was induced in various muscle atrophy conditions causing muscle atrophy by upregulating atrophy-related genes, including atrogin 1 (ubiquitin ligase) and cathepsin L (lysosomal proteinase). (nih.gov)
Neutrophils are recruited to the site of joint inflammation and release Cathepsin G, elastase and proteinase 3, proteases which are believed to be responsible for cartilage destruction associated with rheumatoid arthritis. (justia.com)
This study establishes the primary structure of human skin chymase and provides further evidence for the presence of a cathepsin G-like proteinase within human mast cells. (duke.edu)
The protein encoded by this gene is a lysosomal cysteine proteinase and a member of the C1 peptidase family. (enigmadiagnostics.com)

The p41 protein binds to proteases called cathepsins, preventing the enzymes from cleaving the Ebola glycoprotein, thus stopping the fusion of the virus with the endosome and the release of the viral genome into the cell, the team demonstrated. (the-scientist.com)
The studies also demonstrated that IL-13 and gamma-interferon caused impressive increases in two classes of proteases called matrix metalloproteinases and cathepsins. (yale.edu)

Pharmacological inhibition of cathepsin activity with CA074-Me resulted in a substantial reduction of both mature IL-1β production and caspase-1 activation in infected macrophages. (frontiersin.org)
Moreover, cathepsin inhibition abolished the interaction between NLRP3 and ASC, measured by immunofluorescence imaging in H37Rv-infected macrophages, demonstrating a critical role of the enzyme in NLRP3-inflammasome activation. (frontiersin.org)
Effect of autophagy induction and cathepsin B inhibition on developmental competence of poor quality bovine oocytes. (researchmap.jp)
Ectopic expression of the gene in the cell lines resulted in cell growth inhibition and apoptosis in vitro and inhibition of tumor growth in vivo in nude mice. (uclahealth.org)
Thus, his results clearly demonstrated that cystain E/M is a cervical cancer suppressor gene and controls cell growth through the inhibition of cathepsin L. His laboratory used lentiviral tetracycline inducible system for the exogenous expression of cystatin E/M and have shown growth suppression in xenograft tumor mice model pointing to suppressor function of cystatin E/M protein. (uclahealth.org)
Using the inducible and HPV 16 E6 or E7 or E6 and E7 gene transformed human epidermal keratinocyte system the laboratory has shown non-cell autonomous growth inhibition of the tumor cell lines pointing to the utility of developing this suppressor protein for clinical studies. (uclahealth.org)
By screening a combinatorial pentapeptide amide collection in an inhibition assay, we systematically evaluated the potential of 19 proteinogenic amino acids and seven nonproteinogenic amino acids to serve as building blocks for inhibitors of human cathepsin L. Particularly efficient were aromatic, bulky, hydrophobic amino-acid residues, especially leucine, and positively charged residues, especially arginine. (uni-bielefeld.de)

This invention relates to a compound of formula I and their use as inhibitors of Cathepsin C, pharmaceutical compositions containing the same, and methods of using the same as agents for treatment and/or prevention of diseases connected with dipeptidyl peptidase I activity, e.g. respiratory diseases. (justia.com)
Thus, inhibitors of Cathepsin C could potentially be useful therapeutics for the treatment of neutrophil-dominated inflammatory diseases such as chronic obstructive pulmonary disease (COPD), pulmonary emphysema, asthma, multiple sclerosis, and cystic fibrosis (Guay et al. (justia.com)
The current study was designed to find the gene expression of proteases and proteases inhibitors in different hepatitis patients and to determine HCV genotypes mainly focusing on untypeable genotypes of HCV in Abbottabad, Pakistan. (elis.sk)
PCR was conducted to find the expression of proteases and protease inhibitors genes in hepatitis patients and healthy individuals. (elis.sk)
This random approach for the design of inhibitors was introduced to compensate for the inaccuracy induced by shifted docking of combinatorial compound collections at the active center of cathepsin L. Thereby, we obtained structurally defined pentapeptide amides which inhibited human cathepsin L at nanomolar concentrations. (uni-bielefeld.de)
Among the most potent novel inhibitors, one peptide, RKLLW-NH2, shares the amphiphilic character of the nonamer fragment VMNGLQNRK of the autoinhibitory, substrate-like, but reverse-binding prosegment of human cathepsin L which blocks the active center of the enzyme. (uni-bielefeld.de)
Highly potent inhibitors of human cathepsin L identified by screening combinatorial pentapeptide amide collections", EUROPEAN JOURNAL OF BIOCHEMISTRY , vol. 267, 2000, pp. 5085-5092. (uni-bielefeld.de)

Trichinella spiralis dipeptidyl peptidase 1 (TsDPP1), or cysteine cathepsin C, is a secretory protein that is highly expressed during the infective larvae and adult worm stages in the intestines. (bvsalud.org)
Papillon-Lef vre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. (lu.se)

1) You stated that there is a lack of information on other SNPs of cathepsin, after a few minutes in Clarivate's Web of Science a paper was found (10.1016/j.jpeds.2017.08.063) describing an extra cathepsin mutation (Q334P) possibly involved in pancreatitis, though not tropical calcific pancreatitis. (peerj.com)
A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. (lu.se)
A homozygous cathepsin C mutation associated with Haim-Munk syndrome. (lu.se)
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lef vre syndrome. (lu.se)
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lef vre syndrome. (lu.se)
a mutation of cathepsin C. (lu.se)
A novel mutation of the cathepsin C gene in Papillon-Lef vre syndrome. (lu.se)
Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence. (cdc.gov)
It is uncommon, frequently lethal, and often due to a mutation in the osteoclast-associated gene TCIRG1 . (msdmanuals.com)

The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. (antikoerper-online.de)

Interestingly, the first genome-wide CRISPR interference/activation screens to discover susceptibility genes of oxidative stress in induced pluripotent stem cell (iPSC)-derived human neurons identified PSAP. (nature.com)

Identification of peptide fragments generated by digestion of bovine and human osteocalcin with the lysosomal proteinases cathepsin B, D, L, H, and S." J. Bone Miner. (wikipedia.org)
The cathepsin enzymes represent an important family of lysosomal proteinases with a broad spectrum of functions in many, if not in all, tissues and cell types. (unibo.it)

Functional Cathepsin C mutations cause different Papillon-Lef vre syndrome phenotypes. (lu.se)
Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lef vre syndrome. (lu.se)
Loss-of-function mutations in cathepsin C in two families with Papillon-Lef vre syndrome are associated with deficiency of serine proteinases in PMNs. (lu.se)
Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lef vre syndrome. (lu.se)

A polymorphism were also confirmed in a group of Italian Large White pigs homozygous for the IGF2 intron3-g.3072G allele G (IGF2 intron3-g.3072GG) and by haplotype analysis between the markers of the two considered genes. (unibo.it)
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
Homozygous knockout mice for this gene exhibit impaired cancer cell invasion in a breast cancer model. (enigmadiagnostics.com)

This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. (nih.gov)
Researchers have now identified a tumor suppressor gene, cystatin E/M, which may be involved in the control of cervical cancer development. (uclahealth.org)
The researchers have previously used microsatellite analysis of cervical cancer cell lines and primary tumors to localize a tumor suppressor gene to a 300kb interval of chromosome 11q13. (uclahealth.org)
Serine and cysteine cathepsin (Cts) proteases are an important class of intracellular and pericellular enzymes mediating multiple aspects of tumor development. (wustl.edu)

The enzyme, cathepsin B (CatB), caught the attention of Li Gan at the Gladstone Institute of Neurological Disease in San Francisco several years ago when it appeared to prevent buildup of amyloid plaques in the brains of AD mice overexpressing mutant human amyloid precursor protein (APP). (alzforum.org)

A recent study has demonstrated that different single nucleotide polymorphisms (SNPs) localized in cathepsin D (CTSD), F (CTSF), H and Z genes were highly associated with growth, fat deposition and production traits in an Italian Large White pig population. (unibo.it)

Lysosomal cathepsin B (CTSB) has been proposed to play a role in the induction of acute inflammation. (frontiersin.org)
These observations suggest that during Mtb infection, lysosomal release of activated CTSB and possibly other cathepsins inhibitable by CA07-Me is critical for the induction of inflammasome-mediated IL-1β processing by regulating NLRP3-inflammasome assembly in the cytosol. (frontiersin.org)

UP-cDNA demonstrating amplification products for cathepsin G did not demonstrate amplification products for human neutrophil elastase, suggesting that the cathepsin G PCR amplification product was not derived from neutrophils or monocytes possibly contaminating the lesion. (duke.edu)

In conformity with our earlier study, it appears that SWCNT alter a variety of genes that include those involved in oxidative stress. (cdc.gov)

Chromosome 11q13 genomic mapping studies have also identified PACS-1 (phosphofurin acidic cluster sorter protein-1) gene as an oncogene. (uclahealth.org)

Molecular cloning and sequencing of a cDNA coding for mature human kidney cathepsin H". Biol Chem Hoppe-Seyler. (wikipedia.org)
1988). "Amino acid sequences of the human kidney cathepsins H and L." FEBS Lett. (wikipedia.org)
Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
In the Ebola experiments, Lacy-Hulbert, Bruchez, and their colleagues had been using a genetic screen called transposon-mediated gene activation to search for natural antiviral mechanisms within cultured human bone cancer cells. (the-scientist.com)
TRAP AND KILL: Overexpressing the transcription factor CIITA in cultured human cells turns on a gene called CD74 , producing the protein p41, which binds to cathepsin proteases in the endosome (left). (the-scientist.com)
Scholars@Duke publication: Determination of the primary structures of human skin chymase and cathepsin G from cutaneous mast cells of urticaria pigmentosa lesions. (duke.edu)
Amplification of the same UP-cDNA with primers coding for the NH2- and COOH-terminal sequences of human neutrophil cathepsin G also produced a specific amplification product which was sequenced. (duke.edu)
Hier sind Cathepsin G Antikörper für eine Vielzahl von Species wie anti-Human Cathepsin G, anti-Rat Cathepsin G, anti-Mouse Cathepsin G zu finden. (antikoerper-online.de)

It encodes a transcription factor that regulates major histocompatibility complex (MHC) genes, which code for the cell surface proteins that present foreign substances to adaptive immune cells. (the-scientist.com)
135 antibodies against 65 mainly immunoregulatory proteins, we of a multitude of different genes (8, 9). (lu.se)

Interleukin-1 Beta Gene Polymorphism rs16944 May Associate with Increased Susceptibility to Extremity Chronic Osteomyelitis in Chinese Han Population. (cdc.gov)
The N125S polymorphism in the cathepsin G gene (rs45567233) is associated with susceptibility to osteomyelitis in a Spanish population. (cdc.gov)
The aim of this paper was to analyze the presence of polymorphism in the promoter region T/C950 of the osteoprotegerin gene and its distribution in diabetic patients with periodontitis, when compared to the control group. (bvsalud.org)

Controlled individuals showed normal expression of cystatin C and leptin, low expression of cathepsin B while high expression of other studied genes including cathepsin D and G, TPP1 and serpin B1 could be seen. (elis.sk)
Hepatitis B patients revealed considerable variations in the cathepsin and cystatin C gene expression. (elis.sk)
Researchers have now obtained evidence confirming cystatin E/M as the cervical cancer suppressor gene. (uclahealth.org)
Srivatsan's studies further revealed that cathepsin L, a protein overexpressed in several tumors and linked to invasion and metastasis as the physiological target of cystatin E/M. (uclahealth.org)

Two transcript variants encoding different isoforms have been found for this gene. (wikipedia.org)
Transcript variants utilizing alternative polyadenylation signals exist for this gene. (antikoerper-online.de)

Transposons, mobile genetic elements found throughout the genome, can be added to cells to knock out genes they randomly insert into. (the-scientist.com)
In a cell where CD74 is not overexpressed (right), cathepsins cleave the virus's glycoproteins, enabling it to fuse with the side of the endosome and release its genetic material into the cytosol. (the-scientist.com)
A genetic study of cathepsin C gene in two families with Papillon-Lef vre syndrome. (lu.se)
Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

To find out what it was, the team knocked down each of the genes that CIITA regulates, and found one, CD74 (which encodes part of the MHC), that was key to cell survival. (the-scientist.com)
This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. (enigmadiagnostics.com)
The defective CLCN7 gene encodes a chloride channel that is apparently important in osteoclast function. (msdmanuals.com)

Dynamic status of lysosomal cathepsin in bovine oocytes and preimplantation embryos. (researchmap.jp)

Cathepsin H is a protein that in humans is encoded by the CTSH gene. (wikipedia.org)
But he notes that a 2012 study in mice showed that knocking out cathepsins does not prevent Ebola infection, and he questions the importance of the CIITA/CD74 pathway as a primary antiviral mechanism in animals and humans. (the-scientist.com)

first author Binggui Sun and colleagues found gene dose-dependent increases in CatB activity in the CysC-deficient animals. (alzforum.org)

It has been surprisingly found that the bicyclic compounds of the present invention possess potent Cathepsin C activity, high selectivity against other Cathepsins, e.g. (justia.com)

Unfortunately, no association has been found between cathepsin markers and meat quality traits so far, in particular with cathepsin B activity, suggesting that other genes, besides these, affect meat quality parameters. (unibo.it)
The aim of this thesis was to confirm some of these results in other pig populations and identify new cathepsin markers in order to evaluate their effects on cathepsin activity and other production traits. (unibo.it)
In this study, we found that vitamin D inhibited FOXO1-mediated transcriptional activity in a reporter gene assay. (nih.gov)
CTS protease activity also measured by zymograph electrophoresis of Cathepsins. (histoready.com)

In pigs, the involvement of cathepsin enzymes in proteolytic processes have important effects during the conversion of muscle to meat, due to their influence on meat texture and sensory characteristics, mainly in seasoned products. (unibo.it)

Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. (nih.gov)
Using transgenic mice that were genetically engineered to express these genes in the adult mouse lung, Jack A. Elias, M.D., section chief of pulmonary and critical care medicine, and a team of researchers including Zhou Zhu, M.D., Ph.D. (yale.edu)

A candidate gene approach to identify DNA markers associated with meat quality and production traits: investigation of several cathepsin genes in Italian heavy pigs. (unibo.it)
In the first chapter, we reported the results from these two SSC2 gene markers. (unibo.it)
TFEB, cathepsin K and melanocytic markers. (pathologyoutlines.com)
Immunoflourescence images of expression of Nrf2 and HO-1 showing thealteration of key protein markers of antioxidant gene expression, read more in 'Melatonin targets ferroptosis through bimodal alteration of redox environment and cellular pathways in NAFLD model' from Saha et al, in this edition of Bioscience Reports. (portlandpress.com)

The deduced amino acid sequence between the primers was identical to that reported for neutrophil cathepsin G, indicating that the protein of cutaneous mast cells previously shown to be immunologically cross-reactive with neutrophil cathepsin G has a comparable amino acid sequence. (duke.edu)

Eldadah and Faden, 2000 ), we hypothesized that suppression of apoptotic capability during maturation of mammalian brain results from repression of genes involved in the caspase-3 activation pathway, and that injury-induced neuronal apoptosis in the mature brain results from reactivation of these genes. (jneurosci.org)

Our studies demonstrate that IL-13 and gamma-interferon, gene products that regulate inflammation, can also trigger emphysema. (yale.edu)

gene symbol (e.g. (genscript.com)

Increased expression of this gene has been correlated with malignant progression of prostate tumors. (wikipedia.org)
T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. (nih.gov)

The encoded protein is also known as cathepsin X and cathepsin P. This gene is ubiquitously expressed in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. (enigmadiagnostics.com)

These results suggest that differential expression of Apaf-1 and caspase-3 genes may underlie regulation of apoptotic susceptibility during brain development, as well as after acute injury to mature brain, through the intrinsic pathway of caspase activation. (jneurosci.org)
Histones also playing a role in gene regulation and occur in all eukaryotes. (histoready.com)

Altered gene expression patterns were observed in 187 RNA transcripts with a signal log ratio of at least 0.8 (1.7 fold change). (cdc.gov)

The role of cathepsin C in Papillon-Lef vre syndrome, prepubertal periodontitis, and aggressive periodontitis. (lu.se)

Anatomy3

Organisms1

Diseases3

Chemicals and Drugs35

Psychiatry and Psychology1

Phenomena and Processes5

Information Science2

CTSL3

Cysteine protease2

High cathepsin2

Proteinase4

Proteases called2

Inhibition7

Inhibitors7

Dipeptidyl2

Mutation9

Protein encoded by this gene1

Susceptibility genes1

Lysosomal proteinases2

Mutations4

Homozygous3

Tumor4

Enzyme1

SNPs1

CTSB2

Neutrophils1

Oxidative stress1

Chromosome1

Human8

Proteins2

Polymorphism3

Cystatin4

Transcript2

Genetic4

Encodes3

Bovine1

Humans2

CatB1

Potent1

Activity4

Involvement1

Mice2

Markers4

Amino1

Apoptosis1

Regulate1

Symbol1

Expression of this gene2

Lines and primary tumors1

Regulation2

Patterns1

Periodontitis1