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In the 1-h test, MPS IIIB mice were hyperactive, with increased rapid exploratory behaviour and reduced immobility time.
Disruption of the Naglu gene responsible for heparan sulfate degradation results in substantial changes in expression of genes related to neural cell growth and function.
Our results demonstrate the advantages of intravenously administering hUCB cells into a mouse model of Sanfilippo Syndrome type B, the advantages probably a result of Naglu delivery to enzyme-deficient organs.
findings show that the NAGLU protein consists of a precursor and a mature form and that in slowly progressing mucopolysaccharidosis type IIIB patients' fibroblasts only the precursor protein is present at 37 degrees ; culturing at lower temperatures resulted in the formation of the mature, enzymatically active form, due to higher mRNA levels and improved processing
CSF (show CSF2 Proteins) enzyme activity levels for either SGSH (show SGSH Proteins) (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests.
Mutation in NAGLU gene is associated with atypical mucopolysaccharidosis IIIB.
in the current meta-analysis, based on ten prospective studies involving 29366 participants, we evaluated the role of urinary tubular injury markers (NGAL, KIM-1 and NAG) in predicting clinical outcomes including CKD stage 3, end stage renal disease and mortality.
Mutations in NAGLU gene is associated with idiopathic progressive cognitive decline.
Plasma NAG correlates with gastrointestinal cancer outcomes.
study reports that carriers from two families of a severe pathogenic mutation in NAGLU develop a late dominant painful axonal sensory neuropathy.
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.
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.
Urinary NAG/Cr may be a useful surrogate marker for renal function in ADPKD patients.
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.
, N-acetylglucosaminidase, alpha-
, N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB)
, alpha-N-acetylglucosaminidase, lysosomal