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FLASH GENE
Symbol NAGLU contributors: mct/npt - updated : 26-06-2009
HGNC name N-acetylglucosaminidase, alpha-
HGNC id 7632
ASSOCIATED DISORDERS
corresponding disease(s) MPS3B
related resource Mucopolysaccharidosis
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target immune responses contribute greatly to the neuropathology of MPS3B and should be considered as an adjunct treatment in future therapeutic developments for optimal therapeutic effect (DiRosario 2009)
ANIMAL & CELL MODELS
in mouse model of MPS III B, neurons and microglia display the characteristic vacuolation of lysosomal storage of undegraded substrate, but neurons in the medial entorhinal cortex (MEC) display accumulation of several additional substances (OHMI 2009)