Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

Abstract excerpt

Neuraminidase initiates the hydrolysis of sialo-glycoconjugates by removing their terminal sialic acid residues. In humans, primary or secondary deficiency of this enzyme leads to two clinically similar neurodegenerative lysosomal storage disorders: sialidosis and galactosialidosis (GS). Mice nullizygous at the Neu1 locus develop clinical abnormalities reminiscent of early-onset sialidosis in children, including...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Erythrocyte Function and Pathophysiology
• Share to Lysosomal Storage Disorders Research
• Share to Pancreatitis Pathology and Treatment