Work

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

Year: 2010

Type: review

Abstract: Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the defective activity of lysosomal proteins, resulting in accumulation of unmetabolized substrates. As a result, a variety of pathogenic cascades are activated such as altered calcium homeostasis, oxidative stress, inflammation, altered lipid trafficking, autophagy, endoplasmic reticulum stress, and autoimmune responses. Some of these pathways are common to many LSDs, whereas others are only altered in a subset of LSDs. We now review how these cascades impact upon LSD pathology and suggest how intervention in the pathways may lead to novel therapeutic approaches.

Source: Journal of Biological Chemistry

DOI: 10.1074/jbc.r110.134452

Authors: Einat B. Vitner, Frances M. Platt, Anthony H. Futerman

Institutions: Weizmann Institute of Science, University of Oxford

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,430