Human Neuraminidase 1 and Related Diseases

Abstract

Neuraminidase 1 (NEU1) is a lysosomal exo-glycosidase and cleaves glycoside bonds of non-reducing terminal sialic acid. The association of NEU1 with cathepsin A activates NEU1. Overexpression of NEU1 in mammalian cells causes self-association and crystallization of NEU1 in rough endoplasmic reticulum (ER). NEU1 deficiency, called sialidosis, is a type of lysosomal storage disease. There is no fundamental treatment for NEU1 deficiency. Gene therapy seems effective, but it is assumed to be dangerous because NEU1 crystallizes intracellularly and damages cells by rupturing biological membranes. In this mini-review, we summarize about functions of NEU1 and CTSA. We also describe NEU1 or CTSA deficiencies.