title: Impairment of homeostasis in lysosomal storage disorders.
abstract: Lysosomal storage disorders (LSDs) are inherited metabolic diseases caused by deficiencies in lysosomal proteins, which result in accumulation of undegraded metabolites and disruption of lysosomal proteostasis. Despite significant progress in the molecular genetics and biochemistry underlying the cellular pathogenesis of LSDs, the mechanisms that link accumulation of storage material to development and progression of these diseases are still unclear. At the crossroad of degradative pathways, lysosomes play a fundamental role in the maintenance of cellular homeostasis. Through a series of examples, this review illustrates how defects in lysosomal biogenesis and function impact a number of cellular pathways that are involved in the pathogenic cascade.
authors.affiliation: Department of Chemical and Biomolecular Engineering, Rice University, Houston, TX, USA; Department of Biochemistry and Cell Biology, Rice University, Houston, TX, USA; Department of Bioengineering, Rice University, Houston, TX, USA.
authors.forename: Laura
authors.initials: L
authors.lastname: Segatori
mesh_terms: D000818:Animals; D001343:Autophagy; D011992:Endosomes / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000378:metabolism* / Q000628:therapy; D008247:Lysosomes / Q000502:physiology*; D017510:Protein Folding; D011499:Protein Processing, Post-Translational; D011506:Proteins / Q000378:metabolism; D055571:Secretory Pathway; D013312:Stress, Physiological
chemical_list: D011506:Proteins; C018589:lysosomal proteins
keywords: Ca2+ signaling; chaperones; genetics; human molecular disease; neurodegenerative disorders; protein folding; protein function