Property Summary

NCBI Gene PubMed Count 34
PubMed Score 152.04
PubTator Score 305.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
subependymal giant cell astrocytoma 1.593 1.2e-02

Protein-protein Interaction (2)

Gene RIF (11)

PMID Text
25818867 study reports that carriers from two families of a severe pathogenic mutation in NAGLU develop a late dominant painful axonal sensory neuropathy.
25466957 Mutations in NAGLU gene is associated with idiopathic progressive cognitive decline.
25040106 Plasma NAG correlates with gastrointestinal cancer outcomes.
24266751 A modified recombinant NAGLU fused to the receptor-binding motif of insulin-like growth factor (IGF)-II enhances its ability to enter cells using the mannose 6-phosphate receptor, which is the receptor for IGF-II at a different binding site.
23380547 The research may enrich the mutation spectrum of the NAGLU gene in the Chinese population and help us further in understanding the pathogenesis of MPS IIIB.
22935351 Urinary NAG/Cr may be a useful surrogate marker for renal function in ADPKD patients.
22102531 This study suggests a possible role of NAGLU in susceptibility to PD while extending evidence for alpha-synuclein aggregation in the brain in lysosomal storage disorders.
20138557 We have identified an 1146 bp intragenic deletion of the NAGLU gene within consanguineous parents having two children affected with Sanfilippo syndrome type B.
18218046 The NAGLU gene in 11 Mucopolysaccharidosis type IIIB Portuguese patients, was examined, having identified five novel (M1K, W147X, G304V, S522P, and R533X) and four previously reported mutations (W168X, R234C, R565W and R643C).
11793481 Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

AA Sequence

MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGG      1 - 70
GAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSY     71 - 140
SFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTW    141 - 210
DGPLPPSWHIKQLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFL    211 - 280
LAPEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQ    281 - 350
GWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGAL    351 - 420
EAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDA    421 - 490
GAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDL    491 - 560
LDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQARAAAV    561 - 630
SEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKN    631 - 700
VFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW                               701 - 743
//

Text Mined References (42)

PMID Year Title
25818867 2015 Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
25466957 2014 "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.
25040106 2015 Plasma N-acetyl-glucosaminidase in advanced gastro-intestinal adenocarcinoma correlates with age, stage and outcome.
24266751 2014 Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of ?-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23380547 2013 Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22935351 2012 Urinary N-acetyl-?-D glucosaminidase as a surrogate marker for renal function in autosomal dominant polycystic kidney disease: 1 year prospective cohort study.
22102531 2012 Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
21082674 2010 Comprehensive analysis of low-abundance proteins in human urinary exosomes using peptide ligand library technology, peptide OFFGEL fractionation and nanoHPLC-chip-MS/MS.
20138557 2010 Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18218046 2008 Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16151907 2005 Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
15933803 2005 Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14984474 2004 Sanfilippo B syndrome: molecular defects in Greek patients.
14671302 2003 Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios.
12709672 2003 Tubular injury: the first symptom of hypertensive kidney involvement?
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12202988 2002 Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.
11836372 2002 Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
11793481 2002 Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
11668611 2001 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
11286389 2001 Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
11237686 2001 Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase.
11153910 2000 Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
11068184 2000 Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.
10857861 2000 Serum-induced monocyte differentiation and monocyte chemotaxis are regulated by the p38 MAP kinase signal transduction pathway.
10833408 2000 Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells.
10094189 1999 Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
9950362 1999 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
9832037 1998 Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
9443878 1998 NAGLU mutations underlying Sanfilippo syndrome type B.
9443875 1998 Genotype-phenotype correspondence in Sanfilippo syndrome type B.
8776591 1996 Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).
8703123 1996 Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms.
8650226 1996 The molecular basis of Sanfilippo syndrome type B.
6781343 1980 Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.
1783617 1991 Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver.