Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.

ABSTRACT:

Introduction

Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by mutations in the NEU1 gene, encoding the lysosomal sialidase NEU1. Deficient enzyme activity results in impaired processing/degradation of sialo-glycoproteins, and accumulation of oversialylated metabolites. Sialidosis is considered an orphan disorder for which no therapy is currently available.

Areas covered

The review describes the clinical forms of sialidosis and the NEU1 mutations so far identified; NEU1 requirement to complex with the protective protein/cathepsin A for stability and activation; and the pathogenic effects of NEU1 deficiency. Studies of the molecular mechanisms of pathogenesis in animal models uncovered basic cellular pathways downstream of NEU1 and its subs

SUBMITTER: d'Azzo A 

PROVIDER: S-EPMC4777310 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature