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...

Descripción completa

Detalles Bibliográficos
Autores principales: Bonardi, Dario, Ravasio, Viola, Borsani, Giuseppe, d'Azzo, Alessandra, Bresciani, Roberto, Monti, Eugenio, Giacopuzzi, Edoardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143216/
https://www.ncbi.nlm.nih.gov/pubmed/25153125
http://dx.doi.org/10.1371/journal.pone.0104229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143216/
https://www.ncbi.nlm.nih.gov/pubmed/25153125
http://dx.doi.org/10.1371/journal.pone.0104229

Ejemplares similares