present in Gene: NEU1
present in Chromosome: 6
Position on Chromosome: 31860117
Alleles of this Variant: G/A
rs104893979 in
NEU1 gene and
Sialidase deficiency
PMID 14695530 2004 Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
PMID 25153125 2014 In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
PMID 9054950 1997 Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.
PMID 11279074 2001 Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
PMID 8985184 1996 Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
PMID 11063730 2000 Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
PMID 11829139 2002 Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
PMID 10767332 2000 Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
PMID 10944856 2000 Molecular and structural studies of Japanese patients with sialidosis type 1.