• Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. (wikipedia.org)
  • The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. (wikipedia.org)
  • The deficiency of the enzyme alpha-L-fucosidase, which is used to metabolize complex compounds in the body (fucose-containing glycolipids and fucose-containing glycoproteins), leads to lysosomal accumulation of a variety of glycoproteins, glycolipids, and oligosaccharides that contain fucose moieties. (wikipedia.org)
  • FUCA1 gene mutations severely reduce or eliminate the activity of the alpha-L-fucosidase enzyme. (medlineplus.gov)
  • A lack of enzyme activity results in an incomplete breakdown of glycolipids and glycoproteins. (medlineplus.gov)
  • The disease, which affects young adult dogs, is caused by an absence of an enzyme called alpha-L-fucosidase. (yourdog.co.uk)
  • Family 29 encompasses alpha-L-fucosidases, which is a lysosomal enzyme responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. (unl.edu)
  • Fucosidosis is caused by the lack of the enzyme alpha-fucosidase. (ismrd.org)
  • When genetic variants relevant to a patient are then detected via CentoMetabolic MOx, we automatically complement the analysis with biomarkers and/or enzyme testing if applicable, and include the results in the medical report. (centogene.com)
  • Deficiency of alpha-L-fucosidase results in the lysosomal storage disease fucosidosis. (unl.edu)
  • An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA - L -FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. (dictionary.net)
  • Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. (nih.gov)
  • Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood. (lookformedical.com)
  • Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. (nih.gov)
  • For some Glycoprotein diseases, including Fucosidosis, bone marrow transplant has been trialed as an experimental therapy but there are no conclusive results on the long term benefits. (ismrd.org)
  • AXY8 encodes an alpha-fucosidase, underscoring the importance of apoplastic metabolism on the fine structure of Arabidopsis cell wall polysaccharides. (mpg.de)
  • Disrupting two Arabidopsis thaliana xylosyltransferase genes results in plants deficient in xyloglucan, a major primary cell wall component. (mpg.de)
  • Alpha-L-fucosidase is responsible for cutting (cleaving) off a sugar molecule called fucose toward the end of the breakdown process. (medlineplus.gov)
  • Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE . (lookformedical.com)
  • The result is incomplete breakdown of glycolipids and glycoproteins. (wikipedia.org)
  • Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. (medlineplus.gov)
  • A Chain A, Crystal Structure Of Alpha-1,34-Fucosidase From Bifidobacterium Longum Subsp. (unl.edu)
  • A Chain A, The Crystal Structure Of An Alpha-(1-3,4)-Fucosidase From Bifidobacterium Longum Subsp. (unl.edu)
  • Alpha-L-fucosidase [Carbohydrate transport and metabolism]. (unl.edu)
  • Since Alpha-MHC is expressed in differentiated cardiac tissue, we will use antibiotic resistance to select only the differentiated cardiomyocytes. (regensci.org)
  • O-glycans start with the addition of an N-actyleglucosamine, or GalNAc, residue to a serine, shown with an S, or threonine, shown with a T. O-glycans are often short chains consisting of only a few sugars, or they can be extended by the addition of different monosaccharides, resulting in a longer chain. (neb.com)
  • Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. (lookformedical.com)
  • The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982. (wikipedia.org)
  • We will create a fusion gene consisting of alpha Cardiac MHC promoter and aminoglycoside phosphotransferase. (regensci.org)
  • NeoR will be cut out from a plasmid containing the resistance gene and then fused with the alpha Cardiac MHC promoter. (regensci.org)
  • GLYCOSYLATION of other compounds with these amino sugars results in AMINOGLYCOSIDES. (lookformedical.com)
  • The result is a buildup of complex sugars in parts of the body, which leads to death. (wikipedia.org)
  • In a series of papers between 1998 and 2002, he and his coworkers in Maxygen and other companies have used the technique to obtain greatly improved proteins, such as green fluorescent protein, fucosidase, subtilisin, thymidine kinase and interferon-alpha, as well as improved retroviral vectors and bacterial strains of Streptomyces and Lactobacillus . (i-sis.org.uk)
  • Of these, AAV1, 6, 8, and 9 recombinant vectors have been reported to result in higher transgene expression level in muscle than rAAV2 vector (Wang et al. (justia.com)
  • The results show that COVID-19-related international news flow had a complex and unequal pattern, with a few countries and media outlets occupying a prominent place in the network and three media groups played key but different roles in disseminating the news. (bvsalud.org)
  • However, due to the complex and recalcitrant structure of plant cell walls, the process of regenerating these feedstocks are usually complex resulting the high cost. (researchsquare.com)
  • Note that the displayed test results represent raw data and therefore may deviate! (dsmz.de)
  • Additional exoglycosidases, for instance, beta 1-3galactosidase, alpha galactosidase, and fucosidase can be used along with the protein deglycosylation mix. (neb.com)
  • The problem: 1,200,000 people suffer a (new or recurrent) MI every year, and about 40% of them die as a result of the attack. (regensci.org)
  • If they are present, a skin or blood sample will be taken to test for below-normal amounts of alpha-fucosidase. (wikipedia.org)
  • However, the results suggest that quadratic (R2 = 90) was the best fit model to predict the relationship between number of years and annual Merino sheep numbers. (ojafr.ir)
  • Moreover, these results suggest that whey, often considered as a waste product, can be used effectively as a source of prebiotic N-glycans. (omicsdi.org)
  • Any member of the class of enzymes that catalyze the cleavage of the glycosidic linkage of glycosides and the addition of water to the resulting molecules. (bvsalud.org)
  • Combining DMB labeling with pyridylamino (PA) derivatization results in even higher sensitivity sialoglycoconjugate analysis. (takarabio.com)
  • Based on these results, KSiNPs display great potential as an effective therapeutic approach for cutaneous wounds by effectively suppressing excessive or persistent inflammation and fibrosis. (megazyme.com)
  • An additional months, is indi cated as eradication results in increased bone, tumours, of the pancreas that contain Men's Health medication Uroxatral a range of measures in recent years. (hybridnutrition.co.za)
  • These results confirmed that E. multilocularis produces ccfDNA, as solid tumors do, but detection may not yet be sufficient for AE diagnosis nor for the evaluation of treatment efficiency, due to the low levels of ccfDNA detected in patient serum. (bvsalud.org)
  • RESULTS: Of the 685 participants taking at least one dose of atogepant, the treatment period was completed by 74.6% of participants with a mean (standard deviation) treatment duration of 233.6 (89.3) days. (bvsalud.org)