title: Astrocytes and lysosomal storage diseases.
abstract: Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity. Neuropathological abnormalities are a feature of several LSDs and when severe, represent an important determinant in disease outcome. Glial dysfunction, particularly in astrocytes, is also observed in numerous LSDs and has been suggested to impact neurodegeneration. This review will discuss the potential role of astrocytes in LSDs and highlight the possibility of targeting glia as a beneficial strategy to counteract the neuropathology associated with LSDs.
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, United States.
authors.forename: K V
authors.initials: KV
authors.lastname: Rama Rao
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, United States. Electronic address: tkielian@unmc.edu.
authors.forename: T
authors.initials: T
authors.lastname: Kielian
mesh_terms: D000818:Animals; D001253:Astrocytes / Q000502:physiology*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics / Q000503:physiopathology*; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000503:physiopathology; D009474:Neurons / Q000502:physiology
keywords: astrocytes; lysosomal storage diseases; mitochondrial dysfunction; neurodegeneration; reactive astrocytosis