• N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene. (wikipedia.org)
  • OMIM 253010), based on a deficiency of different lysosomal enzymes-N-acetylgalactosamine-6-sulfate sulfatase (GALNS) and β-galactosidase, respectively. (medscape.com)
  • In 1974, the GALNS enzyme and its deficiency were discovered and identified using oligosaccharide substrate prepared from C6S containing N-acetylgalactosamine-6-sulfate. (medscape.com)
  • GALNS deficiency causes a block in the sequential breakdown of glycosaminoglycans N-acetylgalactosamine-6-sulfatase (GALNS) Morquio A (MPS IVA) Morquio B (MPS IVB) -D-Galactosidase Neufeld, EF and Muenzer, J. The Mucopolysaccharidoses. (slideserve.com)
  • Western Blot: N-Acetylgalactosamine-6-Sulfatase/GALNS Antibody [NBP1-00190] - (0.01ug/ml) staining of Human Bone Marrow lysate (35ug protein in RIPA buffer). (novusbio.com)
  • More than 130 mutations in the ARSB gene have been found to cause mucopolysaccharidosis type VI (MPS VI). (medlineplus.gov)
  • To date, more than 160 different mutations have been reported in the ARSB gene. (ac.ir)
  • Meanwhile, genomic DNA was amplified for all 8 exons and flanking intron sequences of the ARSB gene to analyze the spectrum of mutations responsible for the disorder in all patients. (ac.ir)
  • results indicated that missense mutations were the most common mutations in the ARSB gene, most of them being distributed throughout the ARSB gene and restricted to individual families, reflecting consanguineous marriages. (ac.ir)
  • Molecular analysis of Turkish maroteaux-lamy patients and identification of one novel mutation in the arylsulfatase B (ARSB) gene. (ac.ir)
  • Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. (ac.ir)
  • Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. (wikipedia.org)
  • In 1976, the enzyme deficiency in Morquio syndrome type IVA (galactosamine-6-sulfatase deficiency [ie, N -acetyl-galactosamine-6-sulfate sulfatase deficiency]) was identified. (medscape.com)
  • All ENZYME / UniProtKB/Swiss-Prot entries corresponding to 2.8.4. (lookformedical.com)
  • Gonococcal pharyngitis requires culture for ova and parasites imaging studies is unnecessary should not walk barefoot, and should only penetrate the intestinal lumen, where mucosal - glucuronidase deficiency sulfamidase - n-acetylglucosaminidase acetyl-coa - glucosaminide-nacetyltransferase - n-acetylglucosamine--sulfatase n-acetylgalactosamine--sulfatase n-acetylgalactosamine--sulfatase - glucuronidase. (albionfoundation.org)
  • This gene encodes N-acetylgalactosamine-6-sulfatase, which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate. (wikipedia.org)
  • Garrido E, Cormand B, Hopwood JJ, Chabas A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. (medlineplus.gov)
  • The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease. (nih.gov)
  • however, mutations known to result in the complete absence of arylsulfatase B activity cause severe signs and symptoms. (medlineplus.gov)
  • Most of these mutations change single DNA building blocks (nucleotides) in the gene. (medlineplus.gov)
  • A new mouse cardiac electrophysiology method was used to study mice harboring an alpha-myosin heavy chain Arg403Gln missense mutation (alpha-MHC403/+), which results in histological and hemodynamic abnormalities characteristic of familial hypertrophic cardiomyopathy (FHC) and sudden death of uncertain etiology during exercise. (jci.org)
  • C mutation in Afghan siblings and four different homozygous polymorphisms, which have all been observed in other populations. (ac.ir)
  • In 1929, Luis Morquio first reported 4 Swedish patients with MPS IV (now classified as MPS IVA). (medscape.com)
  • Here, we analyzed 4 Iranian and 2 Afghan patients, with dysmorphism indicating MPS VI from North-east Iran. (ac.ir)
  • Garrido E, Cormand B, Hopwood JJ, Chabas A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. (medlineplus.gov)
  • Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder determined by mutations in the arylsulfatase B gene located in chromosome 5. (biomedcentral.com)
  • Garrido E, Chabas A, Coll MJ, Blanco M, Dominguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. (medlineplus.gov)
  • Missense mutations are the largest group, with 31 identified mutations. (nih.gov)
  • Mapping of the missense mutations onto the 4S structure shows that they are distributed throughout the three subunits of the mature 4S polypeptide. (nih.gov)
  • Missense mutations have also been identified in disulfide crosslinks. (nih.gov)
  • The regulation of availability of sulfate from chondroitin 4-sulfate and dermatan sulfate may also affect sulfate assimilation and production of vital molecules, including glutathione and cysteine. (bvsalud.org)
  • Glycosaminoglycans, historically referred to as mucopolysaccharides, consist of repeating disaccharide subunits composed of the molecules chondroitin-4-sulfate, chondroitin-6-sulfate, dermatan sulfate, heparan sulfate, and keratan sulfate. (medscape.com)
  • Nonsense mutations and small insertions or deletions comprise the remainder, with seven mutations each. (nih.gov)
  • however, mutations known to result in the complete absence of arylsulfatase B activity cause severe signs and symptoms. (medlineplus.gov)
  • N-acetylgalactosamine-4-sulfatase) which requires oxygen for activity. (bvsalud.org)
  • There are attractive opportunities to treat rare cancers with PARP-sensitive mutations, as a single agent and in combination with other DNA damaging agents, and to improve on PARP inhibitors currently in development for more common tumor types," said Jean-Jacques Bienaime, Chief Executive Officer of BioMarin. (salesandmarketingnetwork.com)