Article
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
PloS one - 1 Jan 2014
Bonardi Dario, Ravasio Viola, Borsani Giuseppe, d'Azzo Alessandra, Bresciani Roberto, Monti Eugenio, Giacopuzzi Edoardo
Abstract excerpt
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that remove the terminal sialic acid from oligosaccharide chains. Mutations in NEU1 gene are causative of sialidosis (MIM 256550), a severe lysosomal storage disorder showing autosomal recessive mode of inheritance. Sialidosis has been classified into two subtypes: sialidosis type I, a normomorphic, late-onset form, and...
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