Property Summary

NCBI Gene PubMed Count 34
Grant Count 43
R01 Count 22
Funding $10,148,538.6
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 0.012

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
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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
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Publication (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.
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