NAGLU

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.

Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.

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• {{cite journal | vauthors = Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ | title = Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B) | journal = Human Molecular Genetics | volume = 5 | issue = 6 | pages = 771–7 | date = June 1996 | pmid = 8776591 | doi = 10.1093/hmg/5.6.771 | doi-access = free }}
• {{cite journal | vauthors = Clark AG, Glanowski S, Nielsen R, Thomas PD, Kejariwal A, Todd MA, Tanenbaum DM, Civello D, Lu F, Murphy B, Ferriera S, Wang G, Zheng X, White TJ, Sninsky JJ, Adams MD, Cargill M | title = Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios | journal = Science | volume = 302 | issue = 5652 | pages = 1960–3 | date = December 2003 | pmid = 14671302 | doi = 10.1126/science.1088821 | bibcode = 2003Sci...302.1960C | s2cid = 6682593 }}
• {{cite journal | vauthors = Yogalingam G, Hopwood JJ | title = Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications | journal = Human Mutation | volume = 18 | issue = 4 | pages = 264–81 | date = October 2001 | pmid = 11668611 | doi = 10.1002/humu.1189 | s2cid = 25731955 | doi-access = free }}
• {{cite journal | vauthors = Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF | title = The molecular basis of Sanfilippo syndrome type B | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 93 | issue = 12 | pages = 6101–5 | date = June 1996 | pmid = 8650226 | pmc = 39196 | doi = 10.1073/pnas.93.12.6101 | bibcode = 1996PNAS...93.6101Z | doi-access = free }}
• {{cite journal | vauthors = Winder-Rhodes SE, Garcia-Reitböck P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG | title = Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome | journal = Movement Disorders | volume = 27 | issue = 2 | pages = 312–5 | date = February 2012 | pmid = 22102531 | doi = 10.1002/mds.24029 | s2cid = 4834914 }}
• {{cite journal | vauthors = Sasaki T, Sukegawa K, Masue M, Fukuda S, Tomatsu S, Orii T | title = Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver | journal = Journal of Biochemistry | volume = 110 | issue = 5 | pages = 842–6 | date = November 1991 | pmid = 1783617 | doi = 10.1093/oxfordjournals.jbchem.a123668 }}
• {{cite journal | vauthors = Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, Namboodiri KK, Wappner RS, Yu PL | title = Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism | journal = American Journal of Medical Genetics | volume = 7 | issue = 2 | pages = 131–40 | year = 1980 | pmid = 6781343 | doi = 10.1002/ajmg.1320070207 }}
• {{cite journal | vauthors = Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF | title = NAGLU mutations underlying Sanfilippo syndrome type B | journal = American Journal of Human Genetics | volume = 62 | issue = 1 | pages = 64–9 | date = January 1998 | pmid = 9443878 | pmc = 1376809 | doi = 10.1086/301685 }}
• {{cite journal | vauthors = Ayala JM, Goyal S, Liverton NJ, Claremon DA, O'Keefe SJ, Hanlon WA | title = Serum-induced monocyte differentiation and monocyte chemotaxis are regulated by the p38 MAP kinase signal transduction pathway | journal = Journal of Leukocyte Biology | volume = 67 | issue = 6 | pages = 869–75 | date = June 2000 | doi = 10.1002/jlb.67.6.869 | pmid = 10857861 | s2cid = 28719955 }}

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