title: From rare to common and back again: 60years of lysosomal dysfunction.
abstract: Sixty years after its discovery, the lysosome is no longer considered as cell's waste bin but as an organelle playing a central role in cell metabolism. Besides its well known association with lysosomal storage disorders (mostly rare and life-threatening diseases), recent data have shown that the lysosome is also a player in some of the most common conditions of our time; and, perhaps even most important, it is not only a target for orphan drugs (rare disease therapeutic approaches) but also a putative target to treat patients suffering from common complex diseases worldwide. Here we review the striking associations linking rare lysosomal storage disorders such as the well-known Gaucher disease, or even the recently discovered, extremely rare Neuronal Ceroid Lipofuscinosis-11 and some of the most frequent, multifaceted and complex disorders of modern society such as cancer, Parkinson's disease and frontotemporal lobar degeneration.
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Portugal. Electronic address: francisca_coutinho@yahoo.com.
authors.forename: Maria Francisca
authors.initials: MF
authors.lastname: Coutinho
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Portugal.
authors.forename: Sandra
authors.initials: S
authors.lastname: Alves
mesh_terms: D000818:Animals; D057174:Frontotemporal Lobar Degeneration / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D008247:Lysosomes / Q000378:metabolism; D009154:Mutation; D009369:Neoplasms / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D010300:Parkinson Disease / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D035583:Rare Diseases / Q000150:complications / Q000188:drug therapy / Q000235:genetics
keywords: Cancer; Frontotemporal lobar degeneration (FTLD); Gaucher disease (GD); Lysosomal storage disorders (LSDs); Neuronal ceroid lipofuscinosis (NCL); Parkinson's disease (PD)