GlycoproteinStructural characterizationPurificationRecombinantCalled mannoseAspergillusGeneCleavesGlcNAcProteinsMolecularPutativeOligosaccharidesGeneticTumor necroInhibitionLysosomalExpressionMannosidosisIdentificationMethodsFamilyTissueAcid alpha-mannosidaseEnzymeDeficiencyEnzymesStructuralBacillusProteinDiagnosisMild to severeExpressionPastRoleCellHumanBetaIndividuals
Glycoprotein2
- Alpha-Mannosidosis is caused by an enzyme defect due to mutations in the gene for lysosomal alpha-Mannosidase (LAMAN) affecting the lysosomal and cellular glycoprotein catabolism with severe consequences for the organism. (europa.eu)
- Characterization of a proteinase that cleaves zona pellucida glycoprotein ZP2 following activation of mouse eggs. (biomedcentral.com)
Structural characterization2
- Conclusions The SVM-Freescore technique is been shown to be a good sequence-based analysis device for useful and structural characterization of conotoxin protein. (columbiagypsy.net)
- Despite their biological relevance, the molecular and structural characterization of these proteins is still limited. (cancer-pictures.org)
Purification1
- Purification and characterization of a novel L-2-amino-Delta2-thiazoline-4-carboxylic acid hydrolase from Pseudomonas sp. (hirosaki-u.ac.jp)
Recombinant4
- Final Report Summary - ALPHA-MAN (Clinical development of Enzyme Replacement Therapy in alpha-Mannosidosis patients using recombinant human enzyme. (europa.eu)
- Today, the most promising therapy for lysosomal storage disorders including alpha-Mannosidosis is Enzyme Replacement Therapy (ERT) where the respective enzyme lacking in the patient is produced by recombinant approaches and then introduced into the blood stream, from where it is internalized by the cells and reaches the lysosomes replacing the missing endogenous enzyme. (europa.eu)
- Since pharmaceutical interest in this disease is low, two EU-supported projects (EURAMAN and HUE-MAN) within the 5th and 6th framework program, respectively have worked towards developing the recombinant human enzyme (rhLAMAN) as a therapeutic agent for patients suffering from alpha-Mannosidosis. (europa.eu)
- A capillary electrophoresis (CE) way for the characterization of recombinant NTPDases 1, 2, and 3, as well as for assaying NTPDase inhibitors continues to be developed executing the enzymatic response inside the capillary. (bioinf.org)
Called mannose1
- In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose. (medlineplus.gov)
Aspergillus2
- the cell wall of aspergillus nidulans is composed of galactomannoproteins, 1,3-alpha-glucan, beta-glucans, and chitin. (liverpool.ac.uk)
- characterization of nika histidine kinase and two response regulators with special reference to osmotic adaptation and asexual development in aspergillus nidulans. (liverpool.ac.uk)
Gene6
- Mutations in the MAN2B1 gene cause alpha-mannosidosis. (medlineplus.gov)
- This gene provides instructions for making the enzyme alpha-mannosidase. (medlineplus.gov)
- Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. (medlineplus.gov)
- The identification of members of this family as putative alpha-1,2-mannosidases is based on an unpublished characterization of the aman2 gene in Bacillus sp. (unl.edu)
- The murine alpha-lactalbumin-encoding gene (m alpha La) was isolated and completely sequenced. (eurekamag.com)
- The m alpha La gene occurs in a single copy per haploid genome and is specifically expressed in the mammary gland where it is induced during late pregnancy. (eurekamag.com)
Cleaves1
- α(1-6) Core Mannosidase cleaves unbranched non-reducing terminal mannose, α(1-6) linked to the β-linked core mannose of the conserved mannosylchitobiose core of N-linked oligosaccharides. (ludger.com)
GlcNAc1
- Members of this family are alpha-1,2-mannosidases, enzymes which remove alpha-1,2-linked mannose residues from Man(9)(GlcNAc)(2) by hydrolysis. (unl.edu)
Proteins3
- Structure and function of the zona pellucida: identification and characterization of the proteins of the mouse oocyte's zona pellucida. (biomedcentral.com)
- The characterization of homologous proteins endowed with different quaternary structures is particularly suited to unveil key factors in protein oligomerization [1, 2]. (cancer-pictures.org)
- A biophysical characterization of KCTD11 shows that the proteins and its own N-terminal POZ/BTB area are tetrameric. (cancer-pictures.org)
Molecular2
- molecular characterization of the niad and pyrg genes from penicillium camemberti, and their use as transformation markers. (liverpool.ac.uk)
- After a three-year postdoctoral period at the Friedrich-Miescher Institut in Basel (Switzerland), Oscar Vicente moved in 1988 to the Institute of Microbiology and Genetics, University of Vienna (Austria), where he established and led a research group working on different aspects of plant reproductive biology and its biotechnological applications, and on the molecular characterization of pollen allergens and plant MAP kinases. (ebtna.eu)
Putative3
- Putative receptors that are responsible for rhLAMAN uptake into the brain across the Blood Brain Barrier were investigated and we were able to study the outcome of long-term ERT on the neuropathology and associated behavioural deficits observed in immune-tolerant alpha-Mannosidosis mice. (europa.eu)
- alpha-1,2-mannosidase, putative. (unl.edu)
- Putative alpha-1,2-mannosidase [Carbohydrate transport and metabolism]. (unl.edu)
Oligosaccharides3
- Processing of asparagine-linked oligosaccharides by one or more rat liver Golgi α-D-mannosidases dependent on the prior action of UDP-N-acetylglucosamine: α-D-mannoside β 2-N-acetylglucosaminyltransferase I". The Journal of Biological Chemistry. (wikipedia.org)
- Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis. (medlineplus.gov)
- J. 381, 861-866] we treated HL60 cells with N-alk(en)yl-deoxynojirimycin (DNJ) compounds to inhibit glucosphingolipid (GSL) biosynthesis and identified a number of non-GSL-derived, small, free oligosaccharides (FOS) most likely produced due to inhibition of the oligosaccharide-processing enzymes a-glucosidases I and II. (ox.ac.uk)
Genetic1
- The lysosomal storage disorder (LSD) alpha-Mannosidosis is a rare genetic disease and according to the EU regulations, designated as an "orphan" disease. (europa.eu)
Tumor necro1
- Using quantitative RT-PCR we studied the expression of TRPC3, interleukin-1beta (IL-1beta), and tumor necrosis factor-alpha (TNF-alpha) in monocytes from 15 patients with essential hypertension and 16 age- and sex-matched normotensive control subjects. (shengsci.com)
Inhibition2
- van den Elsen, J.M., Kuntz, D.A., Rose, D.R., "Structure of Golgi α-mannosidase II: a target for inhibition of growth and metastasis of cancer cells", EMBO Journal, 20(12): 3008-3017. (wikipedia.org)
- This represents the most detailed characterization of the FOS structures arising from ER a-glucosidase inhibition to date. (ox.ac.uk)
Lysosomal1
- More recently his laboratory has participated to the development of a therapy for the lysosomal storage disease, alpha-mannosidosis. (ebtna.eu)
Expression1
- Reduced expression of alpha-1,2-mannosidase I extends lifespan in Drosophila melanogaster and Caenorhabditis elegans. (neurotree.org)
Mannosidosis11
- To date, no specific treatment for alpha-Mannosidosis is available. (europa.eu)
- The final goal of ALPHA-MAN was to make a future treatment for ALL alpha-Mannosidosis patients available and thereby dramatically improving their life expectancy and quality of life. (europa.eu)
- In line with our plans we have been able to demonstrate the safety and clinical efficacy of rhLAMAN as an effective therapeutic agent for treatment of the human disease alpha-Mannosidosis in clinical trial Phases 1 and 2. (europa.eu)
- In non-clinical studies we also found the optimal rhLAMAN dose for a maximal correction of visceral and central nervous system pathology following injection in immune-tolerant alpha Mannosidosis mice. (europa.eu)
- Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. (medlineplus.gov)
- The signs and symptoms of alpha-mannosidosis can range from mild to severe. (medlineplus.gov)
- Individuals with this early-onset form of alpha-mannosidosis often do not survive past childhood. (medlineplus.gov)
- Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. (medlineplus.gov)
- People with later-onset alpha-mannosidosis may survive into their fifties. (medlineplus.gov)
- Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide. (medlineplus.gov)
- His laboratory is involved in the diagnosis of alpha-mannosidosis, beta-mannosidosis, mucolipidosis type II and III. (ebtna.eu)
Identification1
- One established approach for the identification and characterization of T cell immune response is the use of peptide based epitope mapping strategies. (irjs.info)
Methods1
- Azabicyclic vinyl sulfones for residue-specific dual protein labelling Electronic supplementary information (ESI) available: Detailed methods and additional characterisation. (us.es)
Family1
- To be able to gain additional insights in to the puzzling firm of POZ/BTB domains of KCTD protein, we survey the biophysical characterization from the POZ/BTB of KCTD6 (KCTD6BTB), a known member of the family that shares significant series and functional similarities using the well-characterized KCTD11. (cancer-pictures.org)
Tissue1
- We introduce a two-temperature product applied to a good insulator, alpha-quartz, to model warmth buildup direct tissue blot immunoassay in the SiO(Only two) lattice. (mirnaarray.com)
Acid alpha-mannosidase2
- The diagnosis of alpha-mannosidosis is established in a proband by identification of deficient acid alpha-mannosidase enzyme activity in peripheral blood leukocytes or other nucleated cells such as fibroblasts. (nih.gov)
- Prenatal testing for a pregnancy at increased risk is possible by assay of acid alpha-mannosidase enzymatic activity or molecular genetic testing once the pathogenic variants have been identified in the family. (nih.gov)
Enzyme3
- This gene provides instructions for making the enzyme alpha-mannosidase. (medlineplus.gov)
- Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. (medlineplus.gov)
- The enzyme replacement therapy velmanase alfa has been approved in some European countries for treatment of alpha-mannosidosis. (nih.gov)
Deficiency2
- Our patient has a severe deficiency, and his parents have intermediate levels, of the acidic component of alpha-mannosidase in their cultured fibroblasts. (nih.gov)
- Mannosidosis: deficiency of a specific alpha-mannosidase component in cultured fibroblasts. (nih.gov)
Enzymes1
- Evaluation of Mannosidase and Trypsin enzymes effect on biofilm production of Pseudomonas aeruginosa isolated from burn would infections. (actabiologicaturcica.com)
Structural1
- Our study provides valuable structural details for facilitating the design of crystalline suspension formulation of Keytruda and demonstrates the high potential of MAS NMR as an advanced tool for biophysical characterization of biological therapeutics. (tuberculosistest.net)
Bacillus2
- Characterization of alpha-L-rhamnosidase of Bacillus sp. (researchmap.jp)
- Characterization and Quantitative Willpower of a Various Group of Bacillus subtilis subsp. (lotuskringpoeldijk.nl)
Protein1
- EDEM2 (Endoplasmic reticulum Degradation-Enhancing alpha-Mannosidase-like protein 2) is one of the key-proteins suggested to be involved in the selection and degradation of misfolded proteins from the endoplasmic reticulum. (researchgate.net)
Diagnosis1
- 16. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis. (nih.gov)
Mild to severe2
- The signs and symptoms of alpha-mannosidosis can range from mild to severe. (medlineplus.gov)
- Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. (nih.gov)
Expression2
- We used quantitative real-time polymerase chain reaction (qRT-PCR) to examine the expression of the inflammatory cytokines IL-10, IL-12, IL-13, TNF-alpha, and let-7b in macrophages. (aboutsciencenow.info)
- Overexpression or knockdown of let-7b-5p significantly affected the expression of inflammatory factors in macrophagesincluding interleukin 10 (IL-10), IL-12, IL-13, and tumor necrosis factor alpha. (aboutsciencenow.info)
Past1
- Individuals with this early-onset form of alpha-mannosidosis often do not survive past childhood. (medlineplus.gov)
Role1
- This is usually accomplished by a complex system of mannosidases in which those from class I have an outstanding role, commonly involved in the early. (researchgate.net)
Cell2
- Description: A competitive for quantitative measurement of Canine alpha endorphin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (lotusbiotechnologies.com)
- Description: A competitive for quantitative measurement of Human alpha endorphin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (lotusbiotechnologies.com)
Human2
- 6. Characterization of N-glycans of recombinant human thyrotropin using mass spectrometry. (nih.gov)
- 11. Global and site-specific detection of human integrin alpha 5 beta 1 glycosylation using tandem mass spectrometry and the StrOligo algorithm. (nih.gov)
Beta1
- Significant alterations in network topology and connectivity in function were observed, despite similarity in gut microbial alpha diversity ( P = 0.30) and beta-diversity ( P = 0.123) between control and BBR treatment. (researchsquare.com)
Individuals2
- Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. (medlineplus.gov)
- Alpha-mannosidosis should be suspected in individuals with the following clinical, laboratory, and pathology findings. (nih.gov)