title: New strategies for the treatment of lysosomal storage diseases (review).
abstract: The lysosomal storage diseases (LSDs) are a group of inherited metabolic             disorders caused by the deficiency of any of the lysosomal functions, in most             cases of lysosomal hydrolases. LSDs are typically characterized by storage of             a variety of substrates in multiple tissues and organs and by the variable association             of unusual clinical manifestations that are often responsible for physical and             neurological handicaps. During the past two decades, research in the field of             LSDs has made marked progress, particularly with the development of a variety             of innovative therapeutic approaches. These include several strategies aimed at             increasing the residual activity of the missing enzyme, such as hematopoietic             stem cell transplantation, enzyme replacement therapy, pharmacological chaperone             therapy and gene therapy. An alternative approach is based on reducing the synthesis             of the stored substrate. More recently, the improved knowledge on LSD pathophysiology             has indicated additional targets of therapy. The recent progress made in the treatment             of LSDs represents a good model that may be extended to other genetic disorders.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy. parenti@unina.it
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
authors.forename: Pietro
authors.initials: P
authors.lastname: Vajro
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D056947:Enzyme Replacement Therapy / Q000379:methods; D015316:Genetic Therapy / Q000379:methods; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D016464:Lysosomal Storage Diseases / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy*; D008247:Lysosomes / Q000378:metabolism / Q000473:pathology*; D018832:Molecular Chaperones / Q000378:metabolism; D057165:Proteostasis Deficiencies / Q000628:therapy
chemical_list: D018832:Molecular Chaperones; D006867:Hydrolases