title: Lysosomal storage diseases: from pathophysiology to therapy.
abstract: Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by intralysosomal accumulation of undegraded substrates. The past 25 years have been characterized by remarkable progress in the treatment of these diseases and by the development of multiple therapeutic approaches. These approaches include strategies aimed at increasing the residual activity of a missing enzyme (enzyme replacement therapy, hematopoietic stem cell transplantation, pharmacological chaperone therapy and gene therapy) and approaches based on reducing the flux of substrates to lysosomes. As knowledge has improved about the pathophysiology of lysosomal storage diseases, novel targets for therapy have been identified, and innovative treatment approaches are being developed.
authors.affiliation: Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.forename: Andrea
authors.initials: A
authors.lastname: Ballabio
mesh_terms: D056947:Enzyme Replacement Therapy; D015316:Genetic Therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D018832:Molecular Chaperones
chemical_list: D018832:Molecular Chaperones
keywords: enzyme replacement therapy; gene therapy; pharmacological chaperone therapy; proteostasis regulators; substrate reduction therapy