Gene: NAGLU

Alternate names for this Gene: CMT2V|MPS-IIIB|MPS3B|NAG|UFHSD

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.2

Description of this Gene: N-acetyl-alpha-glucosaminidase

Type of Gene: protein-coding

rs104894590 in NAGLU gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V PMID 9443878 1998 NAGLU mutations underlying Sanfilippo syndrome type B.

PMID 10094189 1999 Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

PMID 8650226 1996 The molecular basis of Sanfilippo syndrome type B.

PMID 9832037 1998 Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

PMID 21712855 2012 A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

PMID 20852935 2010 Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

PMID 25256447 2015 Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

PMID 9443875 1998 Genotype-phenotype correspondence in Sanfilippo syndrome type B.

PMID 26907177 2016 Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

PMID 9950362 1999 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

PMID 14984474 2004 Sanfilippo B syndrome: molecular defects in Greek patients.

PMID 25818867 2015 Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

rs746006696 in NAGLU gene and Dysmorphic features PMID 20852935 2010 Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

PMID 21204211 2011 Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

PMID 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.

PMID 25818867 2015 Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

rs104894590 in NAGLU gene and MPS III B PMID 14984474 2004 Sanfilippo B syndrome: molecular defects in Greek patients.

PMID 10094189 1999 Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

PMID 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.

PMID 11836372 2002 Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

PMID 11793481 2002 Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

PMID 11286389 2001 Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.

PMID 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.

PMID 9832037 1998 Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

PMID 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.

PMID 16151907 2005 Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

PMID 9443878 1998 NAGLU mutations underlying Sanfilippo syndrome type B.

PMID 20852935 2010 Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

PMID 9443875 1998 Genotype-phenotype correspondence in Sanfilippo syndrome type B.

PMID 8650226 1996 Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H.

PMID 9950362 1999 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

PMID 11153910 2000 Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

PMID 28101780 2017 Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.

PMID 8650226 1996 Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H.

PMID 21204211 2011 Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

PMID 23084433 2012 Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.

PMID 25256447 2015 Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

PMID 8650226 1996 Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H.

PMID 26907177 2016 Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 11068184 2000 This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome.

PMID 23667853 2013 A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

PMID 25466957 2014 """Genotype-first"" approaches on a curious case of idiopathic progressive cognitive decline."

PMID 11668611 2001 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

PMID 23380547 2013 Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.

PMID 18218046 2008 Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.

PMID 15300983 2004 Gene symbol: NAGLU. Disease: Sanfillipo syndrome B.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 11068184 2000 This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome.

PMID 18218046 2008 Therefore, the reconstructed history of R234C explains the high incidence of the mutation in Iberian patients with Sanfilippo B disease.

PMID 27590925 2016 A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.

PMID 19046346 2009 Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis.

PMID 11793481 2002 Five different mutations of NAGLU were identified in MPS IIIB patients: L682R, H248R, E153K, g.17703 A>G (novel), and T437I (novel).

PMID 21712855 2012 A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

PMID 20040070 2010 Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.

PMID 9443878 1998 We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R.

PMID 9443878 1998 We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23661660 2013 Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder.

PMID 9443878 1998 We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R.

PMID 21910976 2011 Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

PMID 23100014 2013 A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

PMID 9443878 1998 We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R.

PMID 24314109 2013 Natural history of Sanfilippo syndrome in Spain.

PMID 9443878 1998 We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R.

PMID 26075876 2015 Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

PMID 28844463 2017 Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.

rs104894598 in NAGLU gene and Mucopolysaccharidosis III PMID 23380547 2013 Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.

PMID 9950362 1999 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

rs684214 in NAGLU gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.