• The GALNS gene provides instructions for producing an enzyme called N-acetylgalactosamine 6-sulfatase. (medlineplus.gov)
  • OMIM 253010), based on a deficiency of different lysosomal enzymes-N-acetylgalactosamine-6-sulfate sulfatase (GALNS) and β-galactosidase, respectively. (medscape.com)
  • The US Food and Drug Administration (FDA) today approved the first drug for mucopolysaccharidosis type IVA (Morquio A Syndrome), a rare, autosomal recessive lysosomal storage disease caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfatase (GALNS). (medscape.com)
  • 6. The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region. (nih.gov)
  • GALNS (N-acetylgalactosamine 6-sulfatase), which is currently in Phase I/II clinical development for the treatment of MPS IVA and BMN 195, which is currently in Phase I clinical development for the treatment of Duchenne Muscular Dystrophy. (salesandmarketingnetwork.com)
  • California, US-based BioMarin announced the approval this week, explaining it has been given the go-ahead to make the bulk substance N-acetylgalactosamine 6-sulfatase (GALNS) at the site in Shanbally. (biopharma-reporter.com)
  • GALNS deficiency induces the accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS), and chondroitin-6-sulfate (C6S) in multiple tissues, particularly bone, cartilage, heart valves, and cornea, while β-galactosidase deficiency induces the accumulation of only KS in those tissues. (medscape.com)
  • In 1974, GALNS enzyme and its deficiency were discovered and identified using oligosaccharide substrate prepared from C6S containing N-acetylgalactosamine-6-sulfate. (medscape.com)
  • Research and Markets ( http://www.researchandmarkets.com/research/k78r8l/biomarins_galns ) has announced the addition of the 'BioMarin's GALNS - Enzyme replacement therapy for Morquio Syndrome A' report to their offering. (benzinga.com)
  • The company's latest effort is GALNS, an enzyme replacement therapy in phase III testing for MPS IVA, a rare genetic disease. (benzinga.com)
  • The drug elosulfase alfa ( Vimizim , BioMarin Pharmaceuticals) replaces the missing GALNS enzyme involved in metabolism. (medscape.com)
  • E.C. 3.1.6.4) is deficient in patients with the lysosomal storage disease mucopolysaccharidosis IV A (also known as MPS IV A and Morquio A). Here, we report the three-dimensional structure of human GALNS, determined by X-ray crystallography at 2.2Å resolution. (nih.gov)
  • Enzymatic assays on the insect-cell-expressed human GALNS indicate activity against synthetic substrates and inhibition by both substrate and product. (nih.gov)
  • Diagnosed with MPS IVA as confirmed by either GALNS enzymatic test or by a diagnostic molecular test. (mangen.co.uk)
  • More than 148 mutations in the GALNS gene have been found to cause mucopolysaccharidosis type IV (MPS IV). (medlineplus.gov)
  • The GALNS gene is found on chromosome 16 . (medlineplus.gov)
  • The active site of GALNS is a large, positively charged trench suitable for binding polyanionic substrates such as keratan sulfate and chondroitin-6-sulfate. (nih.gov)
  • Mapping 120 MPS IV A missense mutations onto the structure reveals that a majority of mutations affect the hydrophobic core of the structure, indicating that most MPS IV A cases result from misfolding of GALNS. (nih.gov)
  • No article was found for Metabolism, Inborn Errors and GALNS[original query] . (cdc.gov)
  • BioMarin modeled its GALNS program after Aldurazyme and Naglazyme, which BioMarin successfully developed in the last 10 years. (benzinga.com)
  • In phase I/II testing, MPS IVA patients taking GALNS improved on several measures of clinical activity. (benzinga.com)
  • In this report, we discuss the rationale for GALNS in MPS IVA, results from BioMarin's completed phase I/II trial, and the potential outcomes in phase III with respect to approval and commercialization. (benzinga.com)
  • We remain centrally focused on our core commercial business, the launch of amifampridine for LEMS in Europe and our Phase 2 PEG-PAL and GALNS development programs. (salesandmarketingnetwork.com)
  • After Biomarin's recent cash call phase III results are eagerly anticipated for its biggest predicted growth driver GALNS, due in the fourth quarter of the year. (evaluate.com)