In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization

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 inh...

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Bibliografiset tiedot
Päätekijät: Bonardi, Dario, Ravasio, Viola, Borsani, Giuseppe, d'Azzo, Alessandra, Bresciani, Roberto, Monti, Eugenio, Giacopuzzi, Edoardo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2014
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Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4143216/
https://ncbi.nlm.nih.gov/pubmed/25153125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104229
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